Browse by Current Cardiff authors

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2025. Genetics and disadvantage: inequity, stigma, and expectation. Deem, Michel J., Grubs, Robin E. and Farrow, Emily G., eds. The Oxford Handbook of Genetic Counseling, New York, NY: Oxford University Press, pp. 651-674. (10.1093/oxfordhb/9780190069964.013.0032)

Mertens, Mayli and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2025. Genetic tests as prophecy: understanding self-defeating and self-fulfilling mechanisms in (predictive) genetic testing. European Journal of Human Genetics 33 , pp. 1051-1056. 10.1038/s41431-025-01874-1

Barbosa, Maria, Paneque, Milena, Fontoura Dias, Sofia, Júlio, Filipa, Sequeiros, Jorge, Sousa, Liliana, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Metcalfe, Alison, Sales, Célia M. D. and Mendes, Álvaro 2025. Addressing family communication in genetic counseling: A scoping review of process studies. Journal of Genetic Counseling 34 (4) , e70067. 10.1002/jgc4.70067

Schneider, Holm, Schneider, Michael, Lia, Massimiliano, Grange, Dorothy K., Hadj-Rabia, Smail, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Fete, Mary, Jaulent, Agnes, Guiraud, Marlene, Odibo, Anthony and Faschingbauer, Florian 2025. Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus. Orphanet Journal of Rare Diseases 20 (1) , 182. 10.1186/s13023-025-03710-7

Hryniewiecka-Jaworska, Anna, Sloper, Emily, Archer, Hayley and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2025. Middle-aged women with Rett Syndrome: Longitudinal profile from the British Isles Rett Syndrome Survey and suggestions for care. Journal of Applied Research in Intellectual Disabilities 38 (2) , e70051. 10.1111/jar.70051

Fontoura Dias, Sofia, Barbosa, Maria, Júlio, Filipa, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Metcalfe, Alison, Sequeiros, Jorge, Paneque, Milena, Sousa, Liliana and Mendes, Álvaro 2025. Communicating genetic information in families with inherited late-onset neurodegenerative diseases: A scoping review. Health Communication 10.1080/10410236.2025.2475565 Item availability restricted.

Ballard, L. M., Doheny, S. ORCID: https://orcid.org/0000-0003-0529-7301, Dimond, R. ORCID: https://orcid.org/0000-0003-1974-7289, Lucassen, A. M. and Clarke, A. J. ORCID: https://orcid.org/0000-0002-1200-9286 2025. Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments. Journal of Genetic Counseling 34 (1) , e1911. 10.1002/jgc4.1911

Perrot, Adeline, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Vassy, Carine and Horn, Ruth 2024. Women's preferences for NIPT as a first‐line test in England and France: challenges for genetic counseling practices. Journal of Genetic Counseling 33 (6) , pp. 1204-1214. 10.1002/jgc4.1839

Sloper, Emily, Hunt, Megan and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2024. Review of a specialist Rett syndrome clinic from 2003 to the COVID pandemic: clinic experience and carer perspectives. Orphanet Journal of Rare Diseases 19 (1) , 477. 10.1186/s13023-024-03483-5

Ellard, Holly, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Wynn, Sarah, Pichini, Amanda and Lewis, Celine 2024. Written communication of whole genome sequencing results in the NHS Genomic Medicine Service: a multi-centre service evaluation. European Journal of Human Genetics 32 , pp. 1436-1445. 10.1038/s41431-024-01636-5

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2024. The implementation of genomics in healthcare: The challenge of justice. Kumar, Dhavendra and Chadwick, Ruth, eds. Genomics, Populations, and Society: Genomic and Precision Medicine in Clinical Practice, Academic Press (Elsevier), pp. 137-156. (10.1016/B978-0-323-91799-5.00002-4)

Laskowski, Nastazja Monika, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Patch, Christine, Pichini, Amanda, Hill, Melissa, Whyte, Sinead and Lewis, Celine 2024. Variation exists in service delivery: similarities and differences in the provision of a whole genome sequencing service for paediatric rare disease patients in the National Health Service in England. Public Health Genomics 28 (1) , pp. 1-18. 10.1159/000542027

Horn, Ruth, Merchant, Jennifer, Bale, Mark, Banner, Natalie, Cambon-Thomsen, Anne, Chneiweiss, Herve, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Hashiloni-Dolev, Yael, Kerasidou, Angeliki, Lucassen, Anneke, Parker, Michael, Patch, Christine, Prainsack, Barbara, Raz, Aviad, Richter, Gesine and Winkler, Eva 2024. Ethical and social implications of public-private partnerships in the context of genomic/big health data collection. Journal of Genetic Counseling 32 , pp. 736-741. 10.1038/s41431-024-01608-9

Chaouch, Amina, Ulph, Fiona, Alder, James, Hamdalla, Hisham, Ealing, John, Clancy, Tara, Macleod, Rhona and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2024. Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions. European Journal of Human Genetics 32 (3) , pp. 260-262. 10.1038/s41431-023-01520-8

Hedgecoe, Adam ORCID: https://orcid.org/0000-0002-8965-3889, Job, Kathleen ORCID: https://orcid.org/0000-0001-9959-2111 and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2024. Taking after a parent: phenotypic resemblance and the professional familialisation of genomics. Sociology of Health & Illness 46 (2) , pp. 257-275. 10.1111/1467-9566.13699

Johnson, Kirsten, Stanfield, Andrew C., Scerif, Gaia, McKechanie, Andrew, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Herring, Jonathan, Smith, Kayla and Crawford, Hayley 2024. A holistic approach to fragile X syndrome integrated guidance for person‐centred care. Journal of Applied Research in Intellectual Disabilities 37 (3) , e13214. 10.1111/jar.13214

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Ballard, Lisa and Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301 2024. Patients and consultations. Communication & Medicine 19 (1) , pp. 77-81. 10.1558/cam.23724

Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Davies, Sally J., Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E., Greenhalgh, Lynn, Holder, Susan E., Johnson, Diana, Kumar, Ajith, Ladda, Roger L., Sell, Susan, Begtrup, Amber, Lynch, Sally A., McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2023. Börjeson–Forssman–Lehmann syndrome: Delineating the clinical and allelic spectrum in 14 new families. European Journal of Human Genetics 31 , pp. 1421-1429. 10.1038/s41431-023-01447-0

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2023. Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. 'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland. Nature 10.1038/s41431-023-01490-x

Hedgecoe, Adam ORCID: https://orcid.org/0000-0002-8965-3889, Job, Kathleen ORCID: https://orcid.org/0000-0001-9959-2111 and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2023. Reflexive standardization and the resolution of uncertainty in the genomics clinic. Social Studies of Science 53 (3) , pp. 358-378. 10.1177/03063127231154863

Vockley, Jerry, Brunetti-Pierri, Nicola, Chung, Wendy K., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Gold, Nina, Green, Robert C., Kagan, Stephen, Moroz, Tara, Schaaf, Christian P., Schulz, Martin and De Baere, Elfride 2023. Response to Beretich and Beretich. Genetics in Medicine 10.1016/j.gim.2023.100903

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2023. Terminology and consistency. The American Journal of Bioethics 23 (3) , pp. 53-55. 10.1080/15265161.2023.2169401

Cornel, Martina C. and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2023. New year, new goals for the journal? Journal of Community Genetics 14 (1) , pp. 1-3. 10.1007/s12687-023-00637-z

Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K., Norton, Mary E., Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane and Porte, Florence 2023. Protocol for the phase 2 EDELIFE trial investigating the efficacy and safety of intra-amniotic ER004 administration to male subjects with x-linked hypohidrotic ectodermal dysplasia. Genes 14 (1) , 153. 10.3390/genes14010153

Friedrich, Bettina, Vindrola-Padros, Cecilia, Lucassen, Anneke, Patch, Christine, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Lakhanpaul, Monica and Lewis, Celine 2023. "A very big challenge": A qualitative study to explore the early barriers and enablers to implementing a national genomic medicine service in England. Frontiers in Genetics 14 , 1282034. 10.3389/fgene.2023.1282034

Forzano, Francesca, Antonova, Olga, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio, Genuardi, Maurizio, Peterlin, Borut, Oliveira, Carla, Writzl, Karin, Houge, Gunnar Douzgos, Cordier, Christophe, Howard, Heidi, Macek, Milan, Melegh, Be?la, Mendes, Alvaro, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle and Ulph, Fiona 2022. Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'. European Journal of Human Genetics 10.1038/s41431-022-01263-y

Peschel, Nicolai, Wright, John T., Koster, Maranke I., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Tadini, Gianluca, Fete, Mary, Hadj-Rabia, Smail, Sybert, Virginia P., Norderyd, Johanna, Maier-Wohlfart, Sigrun, Fete, Timothy J., Pagnan, Nina, Visinoni, Atila F. and Schneider, Holm 2022. Molecular pathway-based classification of ectodermal dysplasias: first five-yearly update. Genes 13 (12) , 2327. 10.3390/genes13122327

Forzano, Francesca, Antonova, Olga, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla and Genuardi, Maurizio 2022. Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’. European Journal of Human Genetics 31 (3) , pp. 279-281. 10.1038/s41431-022-01241-4

Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L. and Sadikovic, Bekim 2022. Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Human Mutation: Variation, Informatics and Disease 43 (11) , pp. 1609-1628. 10.1002/humu.24446

Coorey, Bronte, Haase, Florencia, Ellaway, Carolyn, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Lisowski, Leszek and Gold, Wendy A. 2022. Gene editing and Rett syndrome: does it make the cut? The CRISPR Journal 5 (4) , pp. 490-499. 10.1089/crispr.2022.0020

Amin, Sam, Monaghan, Marie, Aledo-Serrano, Angel, Bahi-Buisson, Nadia, Chin, Richard F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Cross, J. Helen, Demarest, Scott, Devinsky, Orrin, Downs, Jenny, Pestana Knight, Elia M., Olson, Heather, Partridge, Carol-Anne, Stuart, Graham, Trivisano, Marina, Zuberi, Sameer and Benke, Tim A. 2022. International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology 13 , 874695. 10.3389/fneur.2022.874695

Forzano, Francesca, Antonova, Olga, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, de Wert, Guido, Hentze, Sabine, Jamshidi, Yalda, Moreau, Yves, Perola, Markus, Prokopenko, Inga, Read, Andrew, Reymond, Alexandre, Stefansdottir, Vigdis, van El, Carla, Genuardi, Maurizio, Peterlin, Borut, Oliveira, Carla, Writzl, Karin, Houge, Gunnar Douzgos, Cordier, Christophe, Howard, Heidi, Macek, Milan, Melegh, Béla, Mendes, Alvaro, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Ulph, Fiona and Jamshidi, Yalda 2022. The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice. European Journal of Human Genetics 30 , pp. 493-495. 10.1038/s41431-021-01000-x

Clarke, A. J. ORCID: https://orcid.org/0000-0002-1200-9286 and van El, C. G. 2022. Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine. Human Genetics 141 , pp. 1099-1107. 10.1007/s00439-022-02453-w

Vockley, Jerry, Brunetti-Pierri, Nicola, Chung, Wendy K., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Gold, Nina, Green, Robert C., Kagan, Stephen, Moroz, Tara, Schaaf, Christian P., Schulz, Martin and De Baere, Elfride 2022. The evolving role of medical geneticists in the era of gene therapy: an urgency to prepare. Genetics in Medicine 25 (4) , 100022. 10.1016/j.gim.2023.100022

McNeill, Alisdair, Amador, Maria-del-Mar, Bekker, Hilary, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Crook, Ashley, Cummings, Cathy, McEwen, Alison, McDermott, Christopher, Quarrell, Oliver, Renieri, Alessandra, Roggenbuck, Jennifer, Salmon, Kristiana, Volk, Alexander and Weishaupt, Jochen 2022. Predictive genetic testing for Motor neuron disease: time for a guideline? European Journal of Human Genetics 30 (6) , pp. 635-636. 10.1038/s41431-022-01093-y

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Shelton, Katherine ORCID: https://orcid.org/0000-0002-1311-5291 and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2022. Can genomics remove uncertainty from adoption? Social workers' and medical advisors' accounts of genetic testing. British Journal of Social Work 52 (2) , pp. 719-737. 10.1093/bjsw/bcab017

Dimond, Rebecca ORCID: https://orcid.org/0000-0003-1974-7289, Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301 and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2022. Genetic testing and family entanglements. Social Science & Medicine 298 , 114857. 10.1016/j.socscimed.2022.114857

Lewis, Celine, Buchannan, James, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Clement, Emma, Friedrich, Bettina, Hastings-Ward, Jillian, Hill, Melissa, Horn, Ruth, Lucassen, Anneke M., Patch, Chris, Pickard, Alexandra, Roberts, Lauren, Sanderson, Saskia C., Lewell, Sarah L., Vindrola-Padros, Cecilia and Lakhanpaul, Monica 2022. Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol [version 2; peer review: 3 approved, 1 approved with reservations]. NIHR Open Research 1 , 23. 10.3310/nihropenres.13236.2

Levy, Michael A., McConkey, Haley, Kerkhof, Jennifer, Barat-Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Bralo, María Palomares, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Fletcher, Robin S., Cherik, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie Ruiz, Piccione, Maria, Pizzi, Simone, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Relator, Raissa, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W.E., Santos-Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella Maria, St John, Miya, Thauvin-Robinet, Christel, Traficante, Giovanna, van der Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce, Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M.A.M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti-Pierri, Nicola, Campeau, Philippe M., Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Kerrnohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman-Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L. and Sadikovic, Bekim 2022. Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders. Human Genetics and Genomics Advances 3 (1) , 100075. 10.1016/j.xhgg.2021.100075

Ting, Michael Sing Onn, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 and McAllister, Marion 2021. Assessing sensitivity to change of the genomics outcome scale (GOS). Journal of Genetic Counseling 30 (6) , pp. 1767-1772. 10.1002/jgc4.1429

Schmitz, Dagmar and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2021. Ethics experts and fetal patients: a proposal for modesty. BMC Medical Ethics 22 (1) , 161. 10.1186/s12910-021-00730-3

Mendes, Álvaro, Sequeiros, Jorge and Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 2021. Between responsibility and desire: Accounts of reproductive decisions from those at risk for or affected by late-onset neurological diseases. Journal of Genetic Counseling 30 (5) , pp. 1480-1490. 10.1002/jgc4.1415

Gaille, Marie, Horn, Ruth and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2021. The ethics of genomic medicine: redefining values and norms in the UK and France. European Journal of Human Genetics 29 (5) , 780–788. 10.1038/s41431-020-00798-2

Klöckner, Chiara, Sticht, Heinrich, Zacher, Pia, Popp, Bernt, Babcock, Holly E., Bakker, Dewi P., Barwick, Katy, Bonfert, Michaela V., Bönnemann, Carsten G., Brilstra, Eva H., Chung, Wendy K., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Devine, Patrick, Donkervoort, Sandra, Fraser, Jamie L., Friedman, Jennifer, Gates, Alyssa, Ghoumid, Jamal, Hobson, Emma, Horvath, Gabriella, Keller-Ramey, Jennifer, Keren, Boris, Kurian, Manju A., Lee, Virgina, Leppig, Kathleen A., Lundgren, Johan, McDonald, Marie T., McTague, Amy, Mefford, Heather C., Mignot, Cyril, Mikati, Mohamad A., Nava, Caroline, Raymond, F. Lucy, Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Sanchis-Juan, Alba, Shashi, Vandana, Shieh, Joseph T. C., Shinawi, Marwan, Slavotinek, Anne, Stödberg, Tommy, Stong, Nicholas, Sullivan, Jennifer A., Taylor, Ashley C., Toler, Tomi L., van den Boogaard, Marie-José, van der Crabben, Saskia N., van Gassen, Koen L. I., van Jaarsveld, Richard H., Van Ziffle, Jessica, Wadley, Alexandrea F., Wagner, Matias, Wigby, Kristen, Wortmann, Saskia B., Zarate, Yuri A., Møller, Rikke S., Lemke, Johannes R., Platzer, Konrad and Care4Rare Canada Consortium 2021. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genetics in Medicine 23 , pp. 653-660. 10.1038/s41436-020-01020-w

de Wert, Guido, Dondorp, Wybo, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Dequeker, Elisabeth M. C., Cordier, Christophe, Deans, Zandra, van El, Carla G., Fellmann, Florence, Hastings, Ros, Hentze, Sabine, Howard, Heidi, Macek, Milan, Mendes, Alvaro, Patch, Chris, Rial-Sebbag, Emmanuelle, Stefansdottir, Vigdis, Cornel, Martina C. and Forzano, Francesca 2021. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. European Journal of Human Genetics 29 , pp. 365-377. 10.1038/s41431-020-00758-w

Waite, Adrian J., Millar, David and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2020. The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene. Stem Cell Research 49 , 102018. 10.1016/j.scr.2020.102018

McClatchey, Martin A., du Toit, Zachary D., Vaughan, Rhys, Whatley, Sharon D., Martins, Sara, Hegde, Shivaram, Naude, Johann te Water, Thomas, David H., Griffiths, David F., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2020. Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation. European Journal of Medical Genetics 63 (9) , 103972. 10.1016/j.ejmg.2020.103972

Rizzo, Roberta, Van Den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254, Challenger, Aimee, Cuthbert, Andrew, Arribas-Ayllon, M. ORCID: https://orcid.org/0000-0003-2669-2781, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 and Thompson, Rose ORCID: https://orcid.org/0000-0002-2283-6963 2020. Co-creating a knowledge base in the “22q11.2 deletion syndrome” community. Journal of Community Genetics 11 (1) , pp. 101-111. 10.1007/s12687-019-00425-8

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 and Shelton, Katherine ORCID: https://orcid.org/0000-0002-1311-5291 2020. Professionals’ accounts of genetic testing in adoption: a qualitative study. Archives of Disease in Childhood 105 (1) , pp. 74-79. 10.1136/archdischild-2019-316911

Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hülya, Lucassen, Anneke, Mendes, Álvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tassé, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M. and Cornel, Martina C. 2019. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. European Journal of Human Genetics 27 , pp. 1763-1773. 10.1038/s41431-019-0445-y

Hammersen, Johanna, Wohlfart, Sigrun, Goecke, Tamme W., Köninger, Angela, Stepan, Holger, Gallinat, Ralph, Morris, Susan, Bücher, Katharina, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Wünsche, Stephanie, Beckmann, Matthias W., Schneider, Holm and Faschingbauer, Florian 2019. Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. Prenatal Diagnosis 39 (9) , pp. 796-805. 10.1002/pd.5384

Wadrup, Felicity, Holden, Simon, MacLeod, Rhona, Miedzybrodzka, Zosia, Németh, Andrea H., Owens, Shan, Pasalodos, Sara, Quarrell, Oliver and Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 2019. A case-note review of continued pregnancies found to be at a high risk of Huntington's disease: considerations for clinical practice. European Journal of Human Genetics 27 , pp. 1215-1224. 10.1038/s41431-019-0375-8

Piña-Aguilar, Raul E., Simpson, Sheila A., Alshatti, Abdulrahman, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Craufurd, David, Dorkins, Huw, Doye, Karen, Lahiri, Nayana, Lashwood, Alison, Lynch, Colleen, Miller, Claire, Morton, Sally, O'Driscoll, Mary, Quarrell, Oliver W., Rae, Daniela, Strong, Mark, Tomlinson, Charlotte, Turnpenny, Peter and Miedzybrodzka, Zosia 2019. 27 years of prenatal diagnosis for Huntington disease in the United Kingdom. Genetics in Medicine 21 , pp. 1639-1643. 10.1038/s41436-018-0367-z

Grant, Peter E., Pampaka, Maria, Payne, Katherine, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 and McAllister, Marion 2019. Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale. European Journal of Medical Genetics 62 (5) , pp. 324-334. 10.1016/j.ejmg.2018.11.015

Gorman, Kathleen M., Meyer, Esther, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Spinelli, Egidio, McTague, Amy, Sanchis-Juan, Alba, Carss, Keren J., Bryant, Emily, Reich, Adi, Schneider, Amy L., Pressler, Ronit M., Simpson, Michael A., Debelle, Geoff D., Wassmer, Evangeline, Morton, Jenny, Sieciechowicz, Diana, Jan-Kamsteeg, Eric, Paciorkowski, Alex R., King, Mary D., Cross, J. Helen, Poduri, Annapurna, Mefford, Heather C., Scheffer, Ingrid E., Haack, Tobias B., McCullagh, Gary, Millichap, John J., Carvill, Gemma L., Clayton-Smith, Jill, Maher, Eamonn R., Raymond, F. Lucy, Kurian, Manju A., McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda ORCID: https://orcid.org/0000-0002-6410-1324, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D?Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O'Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E., Al Turki, Saeed, Anderson, Carl, Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Antony, Dinu, Artigas, Maria Soler, Ayub, Muhammad, Balasubramaniam, Senduran, Barrett, Jeffrey C., Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Birney, Ewan, Blackwood, Douglas, Bobrow, Martin, Bochukova, Elena, Bolton, Patrick, Bounds, Rebecca, Boustred, Chris, Breen, Gerome, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Chen, Lu, Ciampi, Antonio, Cirak, Sebhattin, Clapham, Peter, Clement, Gail, Coates, Guy, Collier, David, Cosgrove, Catherine, Cox, Tony, Craddock, Nick, Crooks, Lucy, Curran, Sarah, Curtis, David, Daly, Allan, Day-Williams, Aaron, Day, Ian N.M., Down, Thomas, Du, Yuanping, Dunham, Ian, Edkins, Sarah ORCID: https://orcid.org/0000-0003-0717-1972, Ellis, Peter, Evans, David, Faroogi, Sadaf, Fatemifar, Ghazaleh, Fitzpatrick, David R., Flicek, Paul, Flyod, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Gallagher, Louise, Geihs, Matthias, Geschwind, Daniel, Griffin, Heather, Guo, Xueqin, Guo, Xiaosen, Gurling, Hugh, Hart, Deborah, Hendricks, Audrey, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Howie, Bryan, Huang, Liren, Hubbard, Tim, Humphries, Steve E., Hurles, Matthew E., Hysi, Pirro, Jackson, David K., Jamshidi, Yalda, Jing, Tian, Joyce, Chris, Kaye, Jane, Keane, Thomas, Keogh, Julia, Kemp, John, Kennedy, Karen, Kolb-Kokocinski, Anja, Lachance, Genevieve, Langford, Cordelia, Lawson, Daniel, Lee, Irene, Lek, Monkol, Liang, Jieqin, Lin, Hong, Li, Rui, Li, Yingrui, Liu, Ryan, Lönnqvist, Jouko, Lopes, Margarida, Iotchkova, Valentina, MacArthur, Daniel, Marchini, Jonathan, Maslen, John, Massimo, Mangino, Mathieson, Iain, Marenne, Gaëlle, McGuffin, Peter, McIntosh, Andrew, McKechanie, Andrew G., McQuillin, Andrew, Metrustry, Sarah, Mitchison, Hannah, Moayyeri, Alireza, Morris, James, Muntoni, Francesco, Northstone, Kate, O'Donovan, Michael ORCID: https://orcid.org/0000-0001-7073-2379, Onoufriadis, Alexandros, O'Rahilly, Stephen, Oualkacha, Karim, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Palotie, Aarno, Panoutsopoulou, Kalliope, Parker, Victoria, Parr, Jeremy R., Paternoster, Lavinia, Paunio, Tiina, Payne, Felicity, Pietilainen, Olli, Plagnol, Vincent, Quaye, Lydia, Quail, Michael A., Raymond, Lucy, Rehnström, Karola, Ring, Susan, Ritchie, Graham R.S., Roberts, Nicola, Savage, David B., Scambler, Peter, Schiffels, Stephen, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Sharp, Sally I., Shin, So-Youn, Skuse, David, Small, Kerrin, Southam, Lorraine, Spasic-Boskovic, Olivera, St Clair, David, Stalker, Jim, Stevens, Elizabeth, St Pourcian, Beate, Sun, Jianping, Suvisaari, Jaana, Tachmazidou, Ionna, Tobin, Martin D., Valdes, Ana, Van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Visscher, Peter M., Wain, Louise V., Walters, James T.R. ORCID: https://orcid.org/0000-0002-6980-4053, Wang, Guangbiao, Wang, Jun, Wang, Yu, Ward, Kirsten, Wheeler, Elanor, Whyte, Tamieka, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Williamson, Kathleen A., Wilson, Crispian, Wong, Kim, Xu, ChangJiang, Yang, Jian ORCID: https://orcid.org/0000-0003-2631-4553, Zhang, Fend, Zhang, Pingbo, Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter ORCID: https://orcid.org/0000-0002-6410-1324, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim and Yu, Ping 2019. Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. American Journal of Human Genetics 104 (5) , pp. 948-956. 10.1016/j.ajhg.2019.03.005

Frullanti, Elisa, Papa, Filomena T., Grillo, Elisa, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Ben-Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Bienvenu, Thierry, Armstrong, Judith, Roche Martinez, Ana, Mari, Francesca, Nissenkorn, Andreea, Lo Rizzo, Caterina, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Ravn, Kirstine, Bosnjak, Vlatka Mejaski, Hayek, Joussef, Khajuria, Rajni, Montomoli, Barbara, Cogliati, Francesca, Pintaudi, Maria, Hadzsiev, Kinga, Craiu, Dana, Voinova, Victoria, Djukic, Aleksandra, Villard, Laurent and Renieri, Alessandra 2019. Analysis of the phenotypes in the Rett Networked Database. International Journal of Genomics 2019 , 6956934. 10.1155/2019/6956934

Goldenberg, Aaron J., Lloyd-Puryear, Michele, Brosco, Jeffrey P., Therrell, Bradford, Bush, Lynn, Berry, Susan, Brower, Amy, Bonhomme, Natasha, Bowdish, Bruce, Chrysler, Denise, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Crawford, Thomas, Goldman, Edward, Hiner, Sally, Howell, R. Rodney, Orren, David, Wilfond, Benjamin S., Watson, Michael and Brosco, Jeffrey 2019. Including ELSI research questions in newborn screening pilot studies. Genetics in Medicine 21 , pp. 525-533. 10.1038/s41436-018-0101-x

Mendes, Álvaro, Paneque, Milena, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 and Sequeiros, Jorge 2019. Choosing not to know: accounts of non-engagement with pre-symptomatic testing for Machado-Joseph disease. European Journal of Human Genetics 27 , pp. 353-359. 10.1038/s41431-018-0308-y

Wright, John Timothy, Fete, Mary, Schneider, Holm, Zinser, Madelaine, Koster, Maranke I., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Hadj-Rabia, Smail, Tadini, Gianluca, Pagnan, Nina, Visinoni, Atila F., Bergendal, Birgitta, Abbott, Becky, Fete, Timothy, Stanford, Clark, Butcher, Clayton, D'Souza, Rena N., Sybert, Virginia P. and Morasso, Maria I. 2019. Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. American Journal of Medical Genetics Part A 179 (3) , pp. 442-447. 10.1002/ajmg.a.61045

Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Wallgren-Pettersson, Carina 2019. Ethics in genetic counselling. Journal of Community Genetics 10 , pp. 3-33. 10.1007/s12687-018-0371-7

Abdulbari, Bener, Al-Mulla, Mariam and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2019. Premarital screening and genetic counseling program: studies from an endogamous population. International Journal of Applied and Basic Medical Research 9 (1) , pp. 20-26. 10.4103/ijabmr.IJABMR_42_18

Faschingbauer, F, Wohlfart, S, Goecke, T, Köninger, A, Stepan, H, Gallinat, R, Morris, S, Bücher, K, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Beckmann, MW, Schneider, H and Hammersen, J 2018. Accuracy of prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography. European Journal of Ultrasound / Ultraschall in der Medizin 39 (S01) , S25. 10.1055/s-0038-1670428

Carrieri, Daniele, Howard, Heidi C., Benjamin, Caroline, Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Dheensa, Sandi, Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301, Hawkins, Naomi, Halbersma-Konings, Tanya F., Jackson, Leigh, Kayserili, Hülya, Kelly, Susan E., Lucassen, Anneke M., Mendes, Álvaro, Rial-Sebbag, Emmanuelle, Stefánsdóttir, Vigdís, Turnpenny, Peter D., van El, Carla G., van Langen, Irene M., Cornel, Martina C. and Forzano, Francesca 2018. Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. European Journal of Human Genetics 27 , pp. 169-182. 10.1038/s41431-018-0285-1

Mendes, Álvaro, Metcalfe, Alison, Paneque, Milena, Sousa, Liliana, Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Sequeiros, Jorge 2018. Communication of information about genetic risks: putting families at the center. Family Process 57 (3) , pp. 836-846. 10.1111/famp.12306

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Abdala Sheikh, Ana Paula 2018. A perspective on "cure" for Rett syndrome. Orphanet Journal of Rare Diseases 13 (1) , 44. 10.1186/s13023-018-0786-6

de Wert, Guido, Pennings, Guido, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Eichenlaub-Ritter, Ursula, van El, Carla G., Forzano, Francesca, Goddijn, Mariëtte, Heindryckx, Björn, Howard, Heidi C., Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Tarlatzis, Basil C. and Cornel, Martina C. 2018. Human germline gene editing: Recommendations of ESHG and ESHRE. European Journal of Human Genetics 26 , pp. 445-449. 10.1038/s41431-017-0076-0

De Wert, Guido, Heindryckx, Björn, Pennings, Guido, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Eichenlaub-Ritter, Ursula, van El, Carla G., Forzano, Francesca, Goddijn, Mariëtte, Howard, Heidi C., Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Dondorp, Wybo, Tarlatzis, Basil C. and Cornel, Martina C. 2018. Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE. European Journal of Human Genetics 26 , pp. 450-470. 10.1038/s41431-017-0077-z

Quarrell, Oliver W., Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Compton, Cecilia, de Die-Smulders, Christine E.M., Fryer, Alan, Jenkins, Sian, Lahiri, Nayana, MacLeod, Rhona, Miedzybrodzka, Zosia, Morrison, Patrick J., Musgrave, Hannah, O'Driscoll, Mary, Strong, Mark, van Belzen, Martine J., Vermeer, Sascha, Verschuuren-Bemelmans, Corien C. and Bijlsma, Emilia K. 2018. Predictive testing of minors for Huntington's disease: The UK and Netherlands experiences. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 177 (1) , pp. 35-39. 10.1002/ajmg.b.32582

Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Carrieri, Daniele, Dheensa, Sandi, Hawkins, Naomi, Lucassen, Anneke, Turnpenny, Peter and Kelly, Susan 2018. Dimensions of responsibility in medical genetics: exploring the complexity of the “duty to recontact”. New Genetics and Society 37 (3) , pp. 187-206. 10.1080/14636778.2018.1510309

Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S. and Cobb, Stuart R. 2017. CDKL5 variants Improving our understanding of a rare neurologic disorder. Neurology Genetics 3 (6) , e200. 10.1212/NXG.0000000000000200

Ross, Lainie Friedman and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2017. A historical and current review of newborn screening for neuromuscular disorders from around the world: lessons for the United States. Pediatric Neurology 77 , pp. 12-22. 10.1016/j.pediatrneurol.2017.08.012

Carrieri, Daniele, Dheensa, Sandi, Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Turnpenny, Peter D, Lucassen, Anneke M and Kelly, Susan E 2017. Recontacting in clinical practice: the views and expectations of patients in the United Kingdom. European Journal of Human Genetics 25 (10) , pp. 1106-1112. 10.1038/ejhg.2017.122

Dheensa, Sandi, Carrieri, Daniele, Kelly, Susan, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Doheny, Shane ORCID: https://orcid.org/0000-0003-0529-7301, Turnpenny, Peter and Lucassen, Anneke 2017. A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation. European Journal of Medical Genetics 60 (7) , pp. 403-409. 10.1016/j.ejmg.2017.05.001

Mendes, Álvaro, Sousa, Liliana, Sequeiros, Jorge and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2017. Discredited legacy: Stigma and familial amyloid polyneuropathy in Northwestern Portugal. Social Science & Medicine 182 , pp. 73-80. 10.1016/j.socscimed.2017.04.026

Low, Karen J., Ansari, Morad, Abou Jamra, Rami, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, El Chehadeh, Salima, FitzPatrick, David R., Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K., Schneider, Michael C., Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D., Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D. D. D. and Smithson, Sarah F. 2017. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. European Journal of Human Genetics 25 (5) , pp. 552-559. 10.1038/ejhg.2017.27

Molster, Caron M., Lister, Karla, Metternick-Jones, Selina, Baynam, Gareth, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Straub, Volker, Dawkins, Hugh J. S. and Laing, Nigel 2017. Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments. Frontiers in Public Health 5 , 25. 10.3389/fpubh.2017.00025

McRae, Jeremy F., Clayton, Stephen, Fitzgerald, Tomas W., Kaplanis, Joanna, Prigmore, Elena, Rajan, Diana, Sifrim, Alejandro, Aitken, Stuart, Akawi, Nadia, Alvi, Mohsan, Ambridge, Kirsty, Barrett, Daniel M., Bayzetinova, Tanya, Jones, Philip, Jones, Wendy D., King, Daniel, Krishnappa, Netravathi, Mason, Laura E., Singh, Tarjinder, Tivey, Adrian R., Ahmed, Munaza, Anjum, Uruj, Archer, Hayley, Armstrong, Ruth, Awada, Jana, Balasubramanian, Meena, Banka, Siddharth, Baralle, Diana, Barnicoat, Angela, Batstone, Paul, Baty, David, Bennett, Chris, Berg, Jonathan, Bernhard, Birgitta, Bevan, A. Paul, Bitner-Glindzicz, Maria, Blair, Edward, Blyth, Moira, Bohanna, David, Bourdon, Louise, Bourn, David, Bradley, Lisa, Brady, Angela, Brent, Simon, Brewer, Carole, Brunstrom, Kate, Bunyan, David J., Burn, John, Canham, Natalie, Castle, Bruce, Chandler, Kate, Chatzimichali, Elena, Cilliers, Deirdre, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Clasper, Susan, Clayton-Smith, Jill, Clowes, Virginia, Coates, Andrea, Cole, Trevor, Colgiu, Irina, Collins, Amanda, Collinson, Morag N., Connell, Fiona, Cooper, Nicola, Cox, Helen, Cresswell, Lara, Cross, Gareth, Crow, Yanick, D'Alessandro, Mariella, Dabir, Tabib, Davidson, Rosemarie, Davies, Sally, de Vries, Dylan, Dean, John, Deshpande, Charu, Devlin, Gemma, Dixit, Abhijit, Dobbie, Angus, Donaldson, Alan, Donnai, Dian, Donnelly, Deirdre, Donnelly, Carina, Douglas, Angela, Douzgou, Sofia, Duncan, Alexis, Eason, Jacqueline, Ellard, Sian, Ellis, Ian, Elmslie, Frances, Evans, Karenza, Everest, Sarah, Fendick, Tina, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Fryer, Alan, Gardiner, Carol, Gaunt, Lorraine, Ghali, Neeti, Gibbons, Richard, Gill, Harinder, Goodship, Judith, Goudie, David, Gray, Emma, Green, Andrew, Greene, Philip, Greenhalgh, Lynn, Gribble, Susan, Harrison, Rachel, Harrison, Lucy, Harrison, Victoria, Hawkins, Rose, He, Liu, Hellens, Stephen, Henderson, Alex, Hewitt, Sarah, Hildyard, Lucy, Hobson, Emma, Holden, Simon, Holder, Muriel, Holder, Susan, Hollingsworth, Georgina, Homfray, Tessa, Humphreys, Mervyn, Hurst, Jane, Hutton, Ben, Ingram, Stuart, Irving, Melita, Islam, Lily, Jackson, Andrew, Jarvis, Joanna, Jenkins, Lucy, Johnson, Diana, Jones, Elizabeth, Josifova, Dragana, Joss, Shelagh, Kaemba, Beckie, Kazembe, Sandra, Kelsell, Rosemary, Kerr, Bronwyn, Kingston, Helen, Kini, Usha, Kinning, Esther, Kirby, Gail, Kirk, Claire, Kivuva, Emma, Kraus, Alison, Kumar, Dhavendra, Kumar, V. K. Ajith, Lachlan, Katherine, Lam, Wayne, Lampe, Anne, Langman, Caroline, Lees, Melissa, Lim, Derek, Longman, Cheryl, Lowther, Gordon, Lynch, Sally A., Magee, Alex, Maher, Eddy, Male, Alison, Mansour, Sahar, Marks, Karen, Martin, Katherine, Maye, Una, McCann, Emma, McConnell, Vivienne, McEntagart, Meriel, McGowan, Ruth, McKay, Kirsten, McKee, Shane, McMullan, Dominic J., McNerlan, Susan, McWilliam, Catherine, Mehta, Sarju, Metcalfe, Kay, Middleton, Anna, Miedzybrodzka, Zosia, Miles, Emma, Mohammed, Shehla, Montgomery, Tara, Moore, David, Morgan, Sian, Morton, Jenny, Mugalaasi, Hood, Murday, Victoria, Murphy, Helen, Naik, Swati, Nemeth, Andrea, Nevitt, Louise, Newbury-Ecob, Ruth, Norman, Andrew, O'Shea, Rosie, Ogilvie, Caroline, Ong, Kai-Ren, Park, Soo-Mi, Parker, Michael J., Patel, Chirag, Paterson, Joan, Payne, Stewart, Perrett, Daniel, Phipps, Julie, Pilz, Daniela T., Pollard, Martin, Pottinger, Caroline, Poulton, Joanna, Pratt, Norman, Prescott, Katrina, Price, Sue, Pridham, Abigail, Procter, Annie, Purnell, Hellen, Quarrell, Oliver, Ragge, Nicola, Rahbari, Raheleh, Randall, Josh, Rankin, Julia, Raymond, Lucy, Rice, Debbie, Robert, Leema, Roberts, Eileen, Roberts, Jonathan, Roberts, Paul, Roberts, Gillian, Ross, Alison, Rosser, Elisabeth, Saggar, Anand, Samant, Shalaka, Sampson, Julian ORCID: https://orcid.org/0000-0002-2902-2348, Sandford, Richard, Sarkar, Ajoy, Schweiger, Susann, Scott, Richard, Scurr, Ingrid, Selby, Ann, Seller, Anneke, Sequeira, Cheryl, Shannon, Nora, Sharif, Saba, Shaw-Smith, Charles, Shearing, Emma, Shears, Debbie, Sheridan, Eamonn, Simonic, Ingrid, Singzon, Roldan, Skitt, Zara, Smith, Audrey, Smith, Kath, Smithson, Sarah, Sneddon, Linda, Splitt, Miranda, Squires, Miranda, Stewart, Fiona, Stewart, Helen, Straub, Volker, Suri, Mohnish, Sutton, Vivienne, Swaminathan, Ganesh Jawahar, Sweeney, Elizabeth, Tatton-Brown, Kate, Taylor, Cat, Taylor, Rohan, Tein, Mark, Temple, I. Karen, Thomson, Jenny, Tischkowitz, Marc, Tomkins, Susan, Torokwa, Audrey, Treacy, Becky, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Vandersteen, Anthony, Varghese, Vinod, Vasudevan, Pradeep, Vijayarangakannan, Parthiban, Vogt, Julie, Wakeling, Emma, Wallwark, Sarah, Waters, Jonathon, Weber, Astrid, Wellesley, Diana, Whiteford, Margo, Widaa, Sara, Wilcox, Sarah, Wilkinson, Emily, Williams, Denise, Williams, Nicola, Wilson, Louise, Woods, Geoff, Wragg, Christopher, Wright, Michael, Yates, Laura, Yau, Michael, Nellåker, Chris, Parker, Michael, Firth, Helen V., Wright, Caroline F., FitzPatrick, David R., Barrett, Jeffrey C. and Hurles, Matthew E. 2017. Prevalence and architecture of de novo mutations in developmental disorders. Nature 542 , pp. 433-438. 10.1038/nature21062

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2017. Genetic information in medicine: Its generation, significance, and use. Schramme, T. and Edwards, S., eds. Handbook of the Philosophy of Medicine, Dordrecht: Springer, pp. 303-323. (10.1007/978-94-017-8688-1_13)

Cianfaglione, R, Hastings, RP, Felce, David, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Kerr, Michael 2017. Change over a 16-month period in the psychological well-being of mothers of girls and women with Rett syndrome. Developmental Neurorehabilitation 20 (5) , pp. 261-265. 10.3109/17518423.2016.1142483

Hryniemiecka-Jaworska, A., Foden, Elin, Kerr, Michael Patrick, Felce, David John and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2016. Prevalence and associated features of depression in women with Rett Syndrome. Journal of Intellectual Disability Research 60 (6) , pp. 564-570. 10.1111/jir.12270

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2016. Anticipated stigma and blameless guilt: mothers' evaluation of life with the sex-linked disorder, hypohidrotic ectodermal dysplasia (XHED). Social Science & Medicine 158 , pp. 141-148. 10.1016/j.socscimed.2016.04.027

Baig, Sheharyar S., Strong, Mark, Rosser, Elisabeth, Taverner, Nicola, Glew, Ruth, Miedzybrodzka, Zosia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Craufurd, David, UK Huntington’s Disease Prediction Consortium and Quarrell, Oliver W. 2016. 22 years of predictive testing for Huntington's disease: the experience of the UK Huntington's Prediction Consortium. European Journal of Human Genetics 24 , pp. 1396-1402. 10.1038/ejhg.2016.36

Tooley, M, Lynch, D, Bernier, F, Parboosingh, J, Bhoj, E, Zackai, E, Calder, A, Itasaki, N, Wakeling, E, Scott, R, Lees, M, Clayton-Smith, J, Blyth, M, Morton, J, Shears, D, Kini, U, Homfray, T, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Barnicoat, A, Wallis, C, Hewitson, R, Offiah, A, Saunders, M, Langton-Hewer, S, Hilliard, T, Davison, P and Smithson, S 2016. Cerebro-Costo-Mandibular syndrome: Clinical, radiological and genetic findings. American Journal of Medical Genetics Part A 170 (5) , pp. 1115-1126. 10.1002/ajmg.a.37587

Burke, Katherine and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2016. The challenge of consent in clinical genome-wide testing. Archives of Disease in Childhood 101 , pp. 1048-1052. 10.1136/archdischild-2013-304109

Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Thompson, Rose, Mantripragada, Kiran ORCID: https://orcid.org/0000-0003-2070-8105, Blake, Penny, Jones, Glyn, Morgan, Sian, Jose, Sian, Mugalaasi, Hood, Archer, Hayley, McCann, Emma, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Taylor, Clare, Davies, Sally, Gibbon, Frances, Te Water Naude, Johann, Hartley, Louise, Thomas, Gareth, White, Catharine, Natarajan, Jaya, Thomas, Rhys H., Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252, Chung, Seo-Kyung, Rees, Mark I. ORCID: https://orcid.org/0000-0002-6168-9222, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Pilz, Daniela T. and Kerr, Michael Patrick 2016. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 17 , -. 10.1186/s12881-016-0294-2

Cianfaglione, Rina, Meek, Andrea, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Kerr, Michael Patrick, Hastings, Richard P. and Felce, David John 2016. Direct observation of the behaviour of females with Rett Syndrome. Journal of Developmental and Physical Disabilities 28 (3) , pp. 425-441. 10.1007/s10882-016-9478-0

Mendes, Álvaro, Paneque, Milena, Sousa, Liliana, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Sequeiros, Jorge 2016. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. European Journal of Human Genetics 24 (3) , pp. 315-325. 10.1038/ejhg.2015.174

Cianfaglione, R., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Kerr, Michael Patrick, Hastings, R.P., Oliver, C. and Felce, David John 2016. Ageing in Rett syndrome. Journal of Intellectual Disability Research 60 (2) , pp. 182-190. 10.1111/jir.12228

Taylor-Phillips, Sian, Freeman, Karoline, Geppert, Julia, Agbebiyi, Adeola, Uthman, Olalekan A, Madan, Jason, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Quenby, Siobhan and Clarke, Aileen 2016. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 6 (1) , e010002. 10.1136/bmjopen-2015-010002

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2016. Genetic information in medicine: Its generation, significance and use. Schramme, T. and Edwards, S., eds. Handbook of the Philosophy of Medicine., Springer Science+Business Media (Dordrecht ),

Taylor-Phillips, S., Freeman, K., Geppert, J., Madan, J., Uhlman, O., Agbebiyi, A., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Quenby, S. and Clarke, A. 2016. Systematic review and cost-consequence assessment of cell-free fetal DNA testing for T21, T18 and T13 in the UK ? Final report, UK National Screening Committee. [Project Report]. UK National Screening Committee.

Cianfaglione, Rina, Hastings, Richard P., Felce, David John, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Kerr, Michael Patrick 2015. Psychological well-being of mothers and siblings in families of girls and women with Rett Syndrome. Journal of Autism and Developmental Disorders 45 (9) , pp. 2939-2946. 10.1007/s10803-015-2457-y

Jorge, Sequeiros, Sahra, Gibbon and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2015. Genetics and ethics in Latin America. Journal of Community Genetics 6 (3) , pp. 185-187. 10.1007/s12687-015-0241-5

Rodas-Perez, C, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Powell, J and Thorogood, M 2015. Challenges for providing genetic counselling in Colombian genetic clinics: the viewpoint of the physicians providing genetic consultations. Journal of Community Genetics 6 (3) , pp. 301-311. 10.1007/s12687-015-0237-1

Cianfaglione, Rina, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Kerr, Michael Patrick, Hastings, Richard P., Oliver, Chris and Felce, David John 2015. A national survey of Rett syndrome: Age, clinical characteristics, current abilities, and health. American Journal of Medical Genetics Part A 167 (7) , pp. 1493-1500. 10.1002/ajmg.a.37027

Nissenkorn, Andreea, Levy-Drummer, Rachel S., Bondi, Ori, Renieri, Alessandra, Villard, Laurent, Mari, Francesca, Mencarelli, Maria A., Lo Rizzo, Caterina, Meloni, Ilaria, Pineda, Mercedes, Armstrong, Judith, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Bahi-Buisson, Nadia, Mejaski, Bosnjak Vlatka, Djuric, Milena, Craiu, Dana, Djukic, Alexsandra, Pini, Giorgio, Bisgaard, Anne Marie, Melegh, Bela, Vignoli, Aglaia, Russo, Silvia, Anghelescu, Cristina, Veneselli, Edvige, Hayek, Joussef and Ben-Zeev, Bruria 2015. Epilepsy in Rett syndrome-Lessons from the Rett networked database. Epilepsia 56 (4) , pp. 569-576. 10.1111/epi.12941

Cianfaglione, Rina, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Kerr, Michael Patrick, Hastings, Richard P., Oliver, Chris, Moss, Jo, Heald, Mary and Felce, David John 2015. A national survey of Rett syndrome: behavioural characteristics. Journal of Neurodevelopmental Disorders 7 , 11. 10.1186/s11689-015-9104-y

Deans, Zuzanna, Newson, Ainsley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2015. For your interest? The ethical acceptability of using non-invasive prenatal testing to test 'purely for information'. Bioethics 29 (1) , pp. 19-25. 10.1111/bioe.12125

Burke, Katherine and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2015. Genetic screening. Henk, ten Have,, ed. Encyclopedia of Global Bioethics, Springer Reference,

Salinas, CF, Irvine, AD, Itin, PH, Di Giovanna, JJ, Schneider, H, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, McGovern, LS and Fete, M 2014. Second international conference on a classification of ectodermal dysplasias: Development of a multiaxis model. American Journal of Medical Genetics Part A 164 (10) , pp. 2482-2489. 10.1002/ajmg.a.36507

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2014. Managing the ethical challenges of next-generation sequencing in genomic medicine. British Medical Bulletin 111 (1) , pp. 17-30. 10.1093/bmb/ldu017

Shipman, Hannah Elizabeth, Sarangi, Srikant and Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2014. Accounts of consent: orienting to self-other relations regarding motivations to participate in cancer bio-banking. Communication & Medicine 11 (1) , pp. 69-84. 10.1558/cam.v11i1.17324

Williamson, Kathleen A., Rainger, Joe, Floyd, James A. B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S and Wilkie, Andrew O. M. 2014. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. American Journal of Human Genetics 94 (2) , pp. 295-302. 10.1016/j.ajhg.2014.01.001

Mantovani, Roberto, Towers, Rachel E., Murgiano, Leonardo, Millar, David S., Glen, Elise, Topf, Ana, Jagannathan, Vidhya, Drögemüller, Cord, Goodship, Judith A., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286 and Leeb, Tosso 2013. A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti. PLoS ONE 8 (12) , e81625. 10.1371/journal.pone.0081625

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2013. Stigma, self-esteem and reproduction: Talking with men about life with Hypohidrotic Ectodermal Dysplasia. Sociology 47 (5) , pp. 887-905. 10.1177/0038038513493536

Kosicka-Slawinska, Monika, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Lashwood, Alison 2013. Preimplantation genetic diagnosis: understanding what parents plan to tell their children about their conception. Journal of Genetic Counselling 22 (5) , pp. 576-586. 10.1007/s10897-013-9585-3

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286 2013. How much further can large international databases take Rett syndrome research? Developmental Medicine & Child Neurology 55 (6) , pp. 494-495. 10.1111/dmcn.12105

Arribas-Ayllon, Miguel ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2012. Accounting for genetic testing: familial and professional perspectives. eLS , pp. 171-184. 10.1002/9780470015902.a0024171

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2012. Commentary on predictive genetic testing of minors: by Mand et al. Journal of Medical Ethics 38 (9) , pp. 527-528. 10.1136/medethics-2012-100598

Grillo, Elisa, Villard, Laurent, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Ben Zeev, Bruria, Pineda, Mercedes, Bahi-Buisson, Nadia, Hryniewiecka-Jaworska, Anna, Bienvenu, Thierry, Armstrong, Judith, Martinez, Ana Roche, Mari, Francesca, Veneselli, Edvige, Russo, Silvia, Vignoli, Aglaia, Pini, Giorgio, Djuric, Milena, Bisgaard, Anne-Marie, Mejaski Bosnjak, Vlatka, Polgár, Noémi, Cogliati, Francesca, Ravn, Kirstine, Pintaudi, Maria, Melegh, Béla, Craiu, Dana, Djukic, Aleksandra and Renieri, Alessandra 2012. Rett networked database: An integrated clinical and genetic network of rett syndrome databases. Human Mutation 33 (7) , pp. 1031-1036. 10.1002/humu.22072

Armani, Roksana, Archer, Hayley Louise, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Vasudevan, Pradeep, Zweier, Christiane, Ho, Gladys, Williamson, Sarah, Cloosterman, Desiree, Yang, Nan and Christodoulou, John 2012. Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome. American Journal of Medical Genetics Part A 158A (4) , pp. 713-719. 10.1002/ajmg.a.34206

Cardoza, Basil, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Wilcox, Jodie, Gibbon, Frances, Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562, Archer, Hayley, Hryniewiecka-Jaworska, Anna and Kerr, Michael Patrick 2011. Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure - European Journal of Epilepsy 20 (8) , pp. 646-649. 10.1016/j.seizure.2011.06.010

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2011. Promissory strategies of personalisation in the commercialisation of genomic knowledge. Communication & Medicine 8 (1) , pp. 53-66. 10.1558/cam.v8i1.53

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2011. Genetic testing: accounts of autonomy, responsibility and blame. Genetics and Society, London: Routledge.

Sarangi, Srikant, Brookes-Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Bennert, Kristina and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2011. Psychological and sociomoral frames in genetic counseling for predictive testing. Sarangi, Srikant Kumar, Candlin, Chris and Knapp, K., eds. Handbook of Communication in Organisations and Professions, Handbooks of Applied Linguistics, vol. 3. Berlin: De Gruyter Mouton, pp. 235-257.

Sarangi, Srikant Kumar, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Verrier-Jones, Kate 2011. Voicing the Lifeworld: Parental Accounts of Responsibility in Genetic Consultations for Polycystic Kidney Disease. Social Science & Medicine 72 (11) , pp. 1743-1751. 10.1016/j.socscimed.2010.06.040

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Thirlaway, Katie 2011. Genetic counselling for personalised medicine. Human Genetics 130 (1) , pp. 27-31. 10.1007/s00439-011-0988-7

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2011. Genetic counseling, testing and screening. Kuhse, Helga and Singer, Peter, eds. A Companion to Bioethics (2nd revised ed.), Blackwell Companions to Philosophy, Chichester: Blackwell, pp. 245-259. (10.1002/9781444307818.ch22)

Middleton, Anna ORCID: https://orcid.org/0000-0003-3103-8098, Turner, Graham H., Bitner-Glindzicz, Maria, Lewis, Peter, Richards, Martin, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Stephens, Dafydd 2010. Preferences for communication in clinic from deaf people: a cross-sectional study. Journal of Evaluation in Clinical Practice 16 (4) , pp. 811-817. 10.1111/j.1365-2753.2009.01207.x

Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Sarangi, Srikant Kumar and Verrier-Jones, Kate 2010. Voicing the Lifeworld: Parental Accounts of Responsibility in Genetic Consultations for Polycystic Kidney Disease. Social Science and Medicine 72 (11) , pp. 1743-1751.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2010. Genetic testing of children with a family history of progressive neurologic disease [Abstract]. Child: Care, health and development 36 (s1) , p. 30. 10.1111/j.1365-2214.2009.01058.x

Neul, Jeffrey L., Kaufmann, Walter E., Glaze, Daniel G., Christodoulou, John, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Bahi-Buisson, Nadia, Leonard, Helen, Bailey, Mark E. S., Schanen, N. Carolyn, Zappella, Michele, Renieri, Alessandra, Huppke, Peter and Percy, Alan K. 2010. Rett syndrome: revised diagnostic criteria and nomenclature. Annals of Neurology 68 (6) , pp. 944-950. 10.1002/ana.22124

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Hendicott, Bridget, MacSorley, Peter and Frayling, Ian Martin 2010. ‘Mainstreaming’ and the impact on clinical taxonomy: a clinical perspective on the introduction of new genetic tests. Weiser, Bernhard and Berger, Wilhelm, eds. Assessing Life: on the Organisation of Genetic Testing, Science and technology studies, vol. 59. München: Profil Verlag, pp. 133-154.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484 2010. GWAS: heritability missing in action? European Journal of Human Genetics 18 (8) , pp. 859-861. 10.1038/ejhg.2010.35

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2009. Professional ambivalence: accounts of ethical practice in childhood genetic testing. Journal of Genetic Counselling 18 (2) , pp. 173-84. 10.1007/s10897-008-9201-0

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2009. How is genetic profiling going to impact the practice of paediatrics in the future? [Abstract]. Child: Care, Health and Development 36 (s1) , p. 19. 10.1111/j.1365-2214.2009.01058.x

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2009. What is at stake in the predictive genetic testing of children? Familial Cancer 9 (1) , pp. 19-22. 10.1007/s10689-009-9260-x

Borry, Pascal, Evers-Kiebooms, Gerry, Cornel, Martina C., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Dierickx, Kris 2009. Genetic testing in asymptomatic minors background considerations towards ESHG recommendations. European Journal of Human Genetics 17 (6) , pp. 711-719. 10.1038/ejhg.2009.25

Kerr, Michael Patrick, Cardoza, Basil, Wilcox, Jodie, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Gibbon, Francis and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2008. Epilepsy in Retts syndrome: a study of the association between phenotype and genotype [Abstract]. Journal of Intellectual Disability Research 52 (8-9) , p. 658. 10.1111/j.1365-2788.2008.01084.x

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. Managing self-responsibility through other-oriented blame: family accounts of genetic testing. Social Science & Medicine 66 (7) , pp. 1521-1532. 10.1016/j.socscimed.2007.12.022

Edwards, Adrian G. ORCID: https://orcid.org/0000-0002-6228-4446, Gray, Jonathon, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Dundon, Joanna, Elwyn, Glyn ORCID: https://orcid.org/0000-0002-0917-6286, Gaff, Clara Louise, Hood, Kerenza ORCID: https://orcid.org/0000-0002-5268-8631, Iredale, Rachel, Sivell, Stephanie ORCID: https://orcid.org/0000-0003-0253-1860, Shaw, Christine and Thornton, Hazel 2008. Interventions to improve risk communication in clinical genetics: systematic review. Patient Education and Counseling 71 (1) , pp. 4-25. 10.1016/j.pec.2007.11.026

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. The micropolitics of responsibility vis-à-vis autonomy: parental accounts of childhood genetic testing and (non)disclosure. Sociology of Health & Illness 30 (2) , pp. 255-271. 10.1111/j.1467-9566.2007.01037.x

Sivell, Stephanie ORCID: https://orcid.org/0000-0003-0253-1860, Elwyn, Glyn ORCID: https://orcid.org/0000-0002-0917-6286, Gaff, Clara Louise, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Iredale, Rachel, Shaw, Christine, Dundon, Joanna, Thornton, Hazel and Edwards, Adrian G. ORCID: https://orcid.org/0000-0002-6228-4446 2008. How risk is perceived, constructed and interpreted by clients in clinical genetics, and the effects on decision making: systematic review. Journal of Genetic Counselling 17 (1) , pp. 30-63. 10.1007/s10897-007-9132-1

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. Professional ambivalence: accounts of ethical practice in childhood genetic testing. [Working Paper]. School of Social Sciences Working Papers Series, vol. 108. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp108.pd...

Arribas-Ayllon, Michael ORCID: https://orcid.org/0000-0003-2669-2781, Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. The politics of autonomy in genetic testing of children. [Working Paper]. School of Social Sciences Working Papers Series, vol. 107. Cardiff: Cardiff University. Available at: http://www.caerdydd.ac.uk/socsi/resources/wp107.pd...

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. Genetic testing and genomic screening. Kumar, Dhavendra and Weatherall, David, eds. Genomics and clinical medicine, Oxford monographs on medical genetics, Oxford: Oxford University Press, pp. 595-612.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Gaff, Clara Louise 2008. Challenges in the genetic testing of children for familial cancers. Archives of Disease in Childhood 93 (11) , pp. 911-914. 10.1136/adc.2006.113381

Payne, Y., Williams, M., Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Stott, N. C. H., Rowlands, M., Shickle, D., West, G., Meredith, Linda, Goodchild, M., Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2008. Carrier screening for cystic fibrosis in primary care: evaluation of a project in South Wales The South Wales Cystic Fibrosis Carrier Screening Research Team. Clinical Genetics 51 (3) , pp. 153-163. 10.1111/j.1399-0004.1997.tb02445.x

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Parsons, Evelyn Patricia and Williams, Allison 2008. Outcomes and process in genetic counselling. Clinical Genetics 50 (6) , pp. 462-469. 10.1111/j.1399-0004.1996.tb02713.x

Gaff, Clara Louise, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Sivell, Stephanie ORCID: https://orcid.org/0000-0003-0253-1860, Elwyn, Glyn ORCID: https://orcid.org/0000-0002-0917-6286, Iredale, Rachel, Thornton, Hazel, Dundon, Joanna, Shaw, Christine and Edwards, Adrian G. ORCID: https://orcid.org/0000-0002-6228-4446 2007. Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics 15 (10) , pp. 999-1011. 10.1038/sj.ejhg.5201883

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Archer, Hayley Louise, Leonard, Helen and Evans, Julie 2007. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X chromosome inactivation. Journal of Medical Genetics 44 (2) , pp. 148-152. 10.1136/jmg.2006.045260

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Davies, David Mark 2007. Clinical genetics. Levene, M. I., ed. MRCPCH MasterCourse, Vol. 1. Edinburgh: Churchill Livingstone (Elsevier), pp. 86-100.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2007. Ethical and social issues in clinical genetics. Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Korf, B. R., eds. Emery and Rimoin's Principles and Practice of Medical Genetics (5th ed.), Edinburgh: Churchill Livingstone, pp. 799-824.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2007. Genetic counselling. Ashcroft, E., Dawson, A., Draper, H. and McMillan, J. R., eds. Principles of Health Care Ethics (2nd ed.), Chichester: John Wiley, pp. 427-434.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Murray, A. 2007. The ethics of population screening. Cartlidge, Patrick, ed. Ethical, Legal and Social Aspects of Healthcare, Edinburgh: Elsevier, pp. 169-173.

Räisänen, Ulla, Bekkers, Marie-Jet, Boddington, Paula, Sarangi, Srikant and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2006. The causation of disease? The practical and ethical consequences of competing explanations. Medicine, Health Care and Philosophy 9 (3) , pp. 293-306. 10.1007/s11019-006-9007-5

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Ticehurst, Fiona Lucy, eds. 2006. Living with the genome. Ethical and social aspects of human genetics. Palgrave Macmillan.

Latimer, Joanna Elizabeth, Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Pilz, Daniela T. and Shaw, Alison 2006. Rebirthing the clinic: the interaction of clinical judgment and genetic technology in the production of medical science. Science technology & human values 31 (5) , pp. 599-630. 10.1177/0162243906289613

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Ravine, D., Evans, Julie Claire and Whatley, Sharon D. 2006. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett Syndrome. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Bharadwaj, Aditya and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2006. Risky relations: family, kinship and the new genetics. Oxford: Berg.

Bharadwaj, A., Prior, L., Atkinson, P., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Worwood, Mark 2006. The genetic iceberg: risk and uncertainty. Webster, A., ed. New Technologies in Health Care: Challenge, Change and Innovation, Health, Technology and Society, Basingstoke: Palgrave MacMillan, pp. 11-24.

Bharadwaj, A., Atkinson, P. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2006. Medical classification and the experience of genetic haemochromatosis. Atkinson, P., Glasner, Peter and Greenslade, Helen, eds. New Genetics, New Identities, Genetics and Society, Abingdon: Routledge, pp. 120-138.

Evans, Julie C., Archer, Hayley Louise, Colley, James, Ravn, Kirstine, Nielsen, Jytte Bieber, Kerr, Alison, Williams, Elizabeth, Christodoulou, John, Gécz, Jozef, Jardine, Philip E., Wright, Michael J., Pilz, Daniela, Lazarou, Lazarus, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Butler, Rachel, Whatley, Sharon D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Early onset seizures and Rett-like features associated with mutations in CDKL5. European Journal of Human Genetics 13 (10) , pp. 1113-1120. 10.1038/sj.ejhg.5201451

Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Latimer, Joanna Elizabeth, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160, Pilz, Daniela T. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Dysmorphology and the spectacle of the clinic. Sociology of Health & Illness 27 (5) , pp. 551-574. 10.1111/j.1467-9566.2005.00456.x

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Richards, Martin, Kerzin-Storrar, Lauren, Halliday, Jane, Young, Mary Anne, Simpson, Sheila A., Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Forrest, Karen, Lucassen, Anneke, Morrison, Patrick J., Quarrel, Oliver W. J. and Stewart, Helen 2005. Genetic professionals' reports of nondisclosure of genetic risk information within families. European Journal of Human Genetics 13 (5) , pp. 556-562. 10.1038/sj.ejhg.5201394

Parsons, Evelyn Patricia, Moore, Cynthia Bunnie, Israel, Janet Alice, Hood, Kerenza ORCID: https://orcid.org/0000-0002-5268-8631, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bradley, Don M. 2005. Emphasizing parental choice on newborn screening. British Journal of Midwifery 13 (3) , pp. 165-168.

Archer, Hayley Louise, Whatley, Sharon D., Evans, Julie C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., MacDermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lazarou, L., Butler, R., Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Pilz, Daniela, Laccone, F. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2005. Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients. Journal of Medical Genetics 43 (5) , pp. 451-456. 10.1136/jmg.2005.033464

Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bradley, Don M. 2004. Developmental progress in Duchenne muscular dystrophy: lessons for earlier detection. European Journal of Paediatric Neurology 8 (3) , pp. 145-153. 10.1016/j.ejpn.2004.01.009

Sarangi, Srikant Kumar, Bennert, Kristina, Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Harper, Peter Stanley and Gray, Jonathon 2004. Initiation of reflective frames in counselling for Huntington's Disease predictive testing. Journal of Genetic Counselling 13 (2) , pp. 135-155. 10.1023/B:JOGC.0000018823.60761.e0

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2004. On dissecting the genetic basis of behaviour and intelligence. Rees, D. and Rose, S., eds. The New Brain Sciences: Perils and Prospects, Cambridge: Cambridge University Press, pp. 181-194. (10.1017/CBO9780511541698.012)

Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bradley, Don M. 2003. Implications of carrier identification in newborn screening for cystic fibrosis. Archives of Disease in Childhood 88 (6) , pp. 467-471. 10.1136/fn.88.6.F467

Gill, Hefin, Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Maynard, Julie Helen, Fleming, Nick, Whatley, Sharon D., Cranston, T, Thompson, E M, Leonard, H, Davis, M, Christodoulou, J, Skjeldal, O, Hanefeld, F, Kerr, A, Tandy, A, Ravine, D. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2003. Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome. Journal of Medical Genetics 40 (5) , pp. 380-384. 10.1136/jmg.40.5.380

Sarangi, Srikant Kumar, Bennert, Kristina, Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2003. 'Relatively Speaking' : relativisation of genetic risk in counselling for predictive testing. Health, Risk & Society 5 (2) , pp. 155-170. 10.1080/1369857031000123939

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarangi, Srikant Kumar, Bennert, Kristina and Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130 2003. Categorisation practices across professional boundaries: some analytic insights from genetic counselling. Presented at: Annual Meeting of the British Association for Applied Linguistics, Cardiff, UK, September 2002. Published in: Sarangi, Srikant Kumar and Leeuwen, T. eds. Applied Linguistics and Communities of Practice: selected papers from the Annual Meeting of the British Association for Applied Linguistics, Cardiff University, September 2002. British Studies in Applied Linguistics London: Continuum, pp. 150-168.

Sarangi, Srikant Kumar and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2002. Zones of expertise and the management of uncertainty in genetics risk communication. Research on Language and Social Interaction 35 (2) , pp. 139-171. 10.1207/S15327973RLSI3502_2

Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Hood, Kerenza ORCID: https://orcid.org/0000-0002-5268-8631, Lycett, Emma Jane and Bradley, Don M. 2002. Newborn screening for Duchenne muscular dystrophy: a psychosocial study. Archives of Disease in Childhood. Fetal and neonatal edition 86 (2) , pp. 91-95. 10.1136/fn.86.2.F91

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2002. Congenital (structural) myopathies. Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Korf, B. R., eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.), Edinburgh: Churchill Livingstone, pp. 3321-3348.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2002. Ethical and social issues in clinical genetics. Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Korf, B. R., eds. Emery & Rimoin's Principles and Practice of Medical Genetics (4th ed.), Edinburgh: Churchill Livingstone, pp. 897-928.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2002. Genetic counselling, testing and screening: issues for health services, for health professionals and for our clients. Presented at: Between Technology and Humanity: The Impact of Technology on Health Care Ethics, Brussels, Belgium, 18-19 October 2002. Published in: Gastmans, C. ed. Between technology and humanity: the impact of technology on health care ethics. Leuven: Leuven University Press, pp. 97-117.

Sarangi, Srikant Kumar, Howell, Lucy ORCID: https://orcid.org/0000-0002-8263-7130, Bennert, Kristina, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Harper, Peter Stanley and Gray, Jonathon 2001. The negotiation of therapeutic frames in counselling for predictive genetic testing. Journal of Medical Genetics 38 (Sup.1) , S23.

Lazarou, L. P., Myring, J., Knight, S. J. L., Gardner, A. P. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Fragile X (E) syndrome. how common is it? Journal of Medical Genetics 37 (Supp 1) , S66-S66.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Non-directiveness in genetic counselling? Journal of Medical Genetics 37 (Supp 2) , A11-A11.

Featherstone, Katie ORCID: https://orcid.org/0000-0003-4999-8425, Atkinson, Paul Anthony ORCID: https://orcid.org/0000-0001-7367-8160 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Practical kinship and the disclosure of genetic information. Journal of Medical Genetics 37 (Supp 2) , A15-A15.

Ravine, D., Lazarou, L. P., Fisher, P. J., Doull, Iolo John Manlay, MacDonald, M., Thompson, P. W., Gill, H., Meredith, A. L., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Little, E. 2000. Uniparental disomy, molecular and social difficulties in interpretation. Journal of Medical Genetics 37 (Supp 1) , S65-S65.

Gray, Jonathon, Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Norman, Paul, Anglim, Cathy, France, Liz, Barton, Garry, Branston, Lucy, Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348, Roberts, Elizabeth, Newcombe, Robert Gordon ORCID: https://orcid.org/0000-0003-4400-8867, Cohen, David, Rogers, Cerilan, Mansel, Robert Edward ORCID: https://orcid.org/0000-0002-8051-0726 and Harper, Peter 2000. A model protocol evaluating the introduction of genetic assessment for women with a family history of breast cancer. Journal of Medical Genetics 37 (3) , pp. 192-196. 10.1136/jmg.37.3.192

Brain, Katherine Emma ORCID: https://orcid.org/0000-0001-9296-9748, Gray, Jonathon, Norman, Paul, Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Rogers, Cerilan, Mansel, Robert ORCID: https://orcid.org/0000-0002-8051-0726 and Harper, Peter 2000. Why do women attend familial breast cancer clinics? Journal of Medical Genetics 37 (3) , pp. 197-202. 10.1136/jmg.37.3.197

Cheadle, Jeremy Peter ORCID: https://orcid.org/0000-0001-9453-8458, Gill, Harinder, Fleming, Nick, Maynard, Julie Helen, Kerr, Alison, Leonard, Helen, Krawczak, Michael, Cooper, David Neil ORCID: https://orcid.org/0000-0002-8943-8484, Lynch, Sally, Thomas, Nicholas Stuart Tudor, Hughes, Helen, Hulten, Maj, Ravine, David, Sampson, Julian Roy ORCID: https://orcid.org/0000-0002-2902-2348 and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Human Molecular Genetics 9 (7) , pp. 1119-1129. 10.1093/hmg/9.7.1119

Watts, Patrick, Rees, Mark I., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Beck, Lyn, Lane, Carol M., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Gray, Jonathon 2000. Linkage analysis in an autosomal dominant 'zonular nuclear pulverulent' congenital cataract, mapped to chromosome 13q11-13. Eye 14 (2) , pp. 172-175. 10.1038/eye.2000.48

Elwyn, Glyn, Gray, Jonathon and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. Shared decision making and non-directiveness in genetic counselling. Journal of Medical Genetics 37 (2) , pp. 135-138. 10.1136/jmg.37.2.135

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 2000. The biology of mitochondrial disease. Archives of Disease in Childhood 82 (5) , pp. 339-340. 10.1136/adc.82.5.339

Procter, A. M., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Harper, Peter Stanley 1999. Attitudes to genetic testing in childhood in England and Wales. American Journal of Human Genetics 65 (4) , A407-A407.

Eason, C, Parsons, Evelyn Patricia, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bradley, Don M. 1999. The social impact for families of a positive newborn screening result for cystic fibrosis. Journal of Medical Genetics 36 (Supp 1) , S70-S70.

Hughes, E., Lazarou, L. P., Morgan, D. E., Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Meredith, A. L. and Ravine, D. 1999. Mutation detection in patients with X-linked ectodermal dysplasia. Journal of Medical Genetics 36 (Supp 1) , S94-S94.

Procter, A., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Harper, Peter Stanley 1999. Survey of genetic testing in childhood. Journal of Medical Genetics 36 (Supp 1) , S73-S73.

King, David, Shakespeare, Tom, Nicholson, Richard, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and McLean, Sheila 1999. Risks inherent in fetal gene therapy [Letter]. Nature 397 (6718) , p. 383. 10.1038/16998

Tanner, Stephan M., Schneider, Vreni, Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Lazarou, Lazarus and Liechti-Gallati, Sabina 1999. Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients. Neuromuscular Disorders 9 (1) , pp. 41-49. 10.1016/S0960-8966(98)00090-X

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, ed. 1998. The genetic testing of children. Oxfordshire, United Kingdom: Bios Scientific Publishers Ltd.

Smith, Martin J., Creasy, Mike R., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Upadhyaya, Meena 1998. Sex ratio and absence of uniparental disomy in spontaneous abortions with a normal karyotype. Clinical Genetics 53 (4) , pp. 258-261. 10.1111/j.1399-0004.1998.tb02692.x

Webb, T., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Hanefeld, F., Pereira, J. L., Rosenbloom, L. and Woods, C. G. 1998. Linkage analysis in Rett syndrome families suggests that there may be a critical region at Xq28. Journal of Medical Genetics 35 (12) , pp. 997-1003. 10.1136/jmg.35.12.997

Xiang, F., Zhang, Z., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Joseluiz, P., Sakkubai, N., Sarojini, B., Delozier-Blanchet, C. D., Hansmann, I., Edstrom, L. and Anvret, M. 1998. Chromosome mapping of Rett syndrome: a likely candidate region on the telomere of Xq. Journal of Medical Genetics 35 (4) , pp. 297-300. 10.1136/jmg.35.4.297

Ferguson, B. M., Thomas, Nicholas Stuart Tudor, Munoz, F., Morgan, D., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Zonana, J. 1998. Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. Journal of Medical Genetics 35 (2) , pp. 112-115. 10.1136/jmg.35.2.112

Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1997. Genetics, society and clinical practice. Garland Science.

Thomas, Nicholas Stuart Tudor, Davies, K., Webb, T., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Price, W., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Pereira, J., Kerr, A., Anvret, M., Hanefeld, E. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1997. Molecular genetic studies in familial Rett syndrome. European Child & Adolescent Psychiatry 6 (Supp 1) , p. 94.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1997. Parents' responses to predictive genetic testing in their children. Journal of Medical Genetics 34 (2) , pp. 174-175. 10.1136/jmg.34.2.174

Parsons, Evelyn Patricia and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, eds. 1997. Culture, kinship and genes: Towards cross-cultural genetics. London: Palgrave Macmillan UK.

Kere, Juha, Srivastava, Anand K., Montonen, Outi, Zonana, Jonathan, Thomas, Nicholas Stuart Tudor, Ferguson, Betsy, Munoz, Felix, Morgan, Delyth, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Baybayan, Primo, Chen, Ellson Y., Ezer, Sini, Saarialho-Kere, Ulpu, de la Chapelle, Albert and Schlessinger, David 1996. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genetics 13 (4) , pp. 409-416. 10.1038/ng0895-409

Parsons, Evelyn Particia, Bradley, Don M. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1996. Disclosure of Duchenne muscular dystrophy after newborn screening. Archives of Disease in Childhood 74 (6) , pp. 550-553. 10.1136/adc.74.6.550

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1996. Rett syndrome. Journal of Medical Genetics 33 (8) , pp. 693-699. 10.1136/jmg.33.8.693

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Harper, Peter Stanley, Unsworth, P. F., Scotson, John and Doherty, Peter 1995. Eugenics in China. The Lancet 346 (8973) , pp. 508-509. 10.1016/S0140-6736(95)91358-0

Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. An ethical debate: testing may be unhelpful. British Medical Journal (BMJ) 310 (6983) , p. 857. 10.1136/bmj.310.6983.857

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Commentary: cost effectiveness of antenatal screening for cystic fibrosis. BMJ 311 (7018) , p. 1463. 10.1136/bmj.311.7018.1463

Buss, P. W., Hughes, H. E. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Twenty-four cases of the EEC syndrome: clinical presentation and management. Journal of Medical Genetics 32 (9) , pp. 716-723. 10.1136/jmg.32.9.716

Wallgren-Pettersson, C., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Samson, F., Fardeau, M., Dubowitz, V., Moser, H., Grimm, T., Barohn, R. J. and Barth, P. G. 1995. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies. Journal of Medical Genetics 32 (9) , pp. 673-679. 10.1136/jmg.32.9.673

Tyler, Audrey, Ball, David and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Genetic testing in the classroom [Letter]. British Medical Journal (BMJ) 311 (7000) , p. 330. 10.1136/bmj.311.7000.330a

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Population screening for genetic susceptibility to disease. British Medical Journal (BMJ) 311 (6996) , pp. 35-37. 10.1136/bmj.311.6996.35

Hawksworth, Nicholas R., Headland, S., Good, P., Thomas, Nicholas Suart Tudor and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. Aland island eye disease: clinical and electrophysiological studies of a Welsh family. British Journal of Ophthalmology 79 (5) , pp. 424-430. 10.1136/bjo.79.5.424

Wallgren-Pettersson, Carina, Jasani, Bharat, Newman, Geoffrey Richard, Morris, Glenn E., Jones, Sally, Singhrao, Sim, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Virtanen, Ismo, Holmberg, Christer and Rapola, Juhani 1995. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. Neuromuscular Disorders 5 (2) , pp. 93-104. 10.1016/0960-8966(94)00035-8

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1995. The genetic testing of children [Letter]. Journal of Medical Genetics 32 (6) , p. 492. 10.1136/jmg.32.6.492

Fenton-May, J., Bradley, D. M., Sibert, J. R., Smith, R., Parsons, Evelyn Patricia, Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1994. Screening for Duchenne muscular dystrophy. Archives of Disease in Childhood 70 (6) , pp. 551-552. 10.1136/adc.70.6.551

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1994. Genetic counselling: practice and principles. Professional Ethics, Routledge.

Zonana, J., Jones, M., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Gault, J., Muller, B. and Thomas, Nicholas Stuart Tudor 1994. Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 31 (4) , pp. 287-292. 10.1136/jmg.31.4.287

Thomas, Nicholas Stuart Tudor, Chelly, J., Zonana, J., Davies, K. J. P., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Roberts, S. H., Fielding, D., Fryer, A., Gault, J., Rack, K., Buckle, V. and Monaco, A. P. 1993. X-linked hypohidrotic ectodermal dysplasia(EDA) - analysis of cytogenetic rearrangements in 4 patients and development of a detailed physical map within XQ12-Q13.1. American Journal of Human Genetics 53 (3) , p. 1282.

Zonana, J., Jones, M., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Thomas, Nicholas Stuart Tudor 1993. Identification of both de-novo molecular deletions and an apparent excess of male germ-line mutations in X-Linked hypohidrotic ectodermal dysplasia(EDA) - implications for genetic-counseling. American Journal of Human Genetics 53 (3) , p. 1263.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Response to: what counts as success in genetic counseling. Journal of Medical Genetics 19 (1) , pp. 47-49.

Curtis, Andrew R. J., Headland, Sophie, Lindsay, Susan, Thomas, Nicholas Stuart Tudor, Boye, Eileen, Kamakari, Smaragda, Roustan, Paul, Anvret, Maria, Wahlstrom, Jan, McCarthy, Gillian, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Bhattacharya, Shomi 1993. X chromosome linkage studies in familial Rett syndrome. Human Genetics 90 (5) , pp. 551-555. 10.1007/BF00217457

Zonana, J., Gault, J., Davies, K. J. P., Jones, M., Browne, D., Litt, M., Brockdorff, N., Rastan, S., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Thomas, Nicholas Stuart Tudor 1993. Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. American Journal of Human Genetics 52 (1) , pp. 78-84.

Wallgren-Pettersson, Carina, Jasani, Bharat, Rosser, Lyndon G., Lazarou, Lazarus Pavlou, Nicholson, Louise V. B. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Immunohistological evidence for second or somatic mutations as the underlying cause of dystrophin expression by isolated fibres in Xp21 muscular dystrophy of Duchenne-type severity. Journal of the Neurological Sciences 118 (1) , pp. 56-63. 10.1016/0022-510X(93)90246-U

Parsons, Evelyn Patricia and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Genetic risk: women's understanding of carrier risks in Duchenne muscular dystrophy. Journal of Medical Genetics 30 (7) , pp. 562-566. 10.1136/jmg.30.7.562

Upadhyaya, Meena, Roberts, S. H., Farnham, J., MacMillan, J.C., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Heath, Jeremy P., Hodges, I. C. G. and Harper, Peter Stanley 1993. Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12. Human Genetics 91 (4) , pp. 392-394. 10.1007/BF00217365

Bradley, Don M., Parsons, Evelyn Patricia and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Experience with screening newborns for Duchenne muscular dystrophy in Wales. British Medical Journal (BMJ) 306 (6874) , pp. 357-360. 10.1136/bmj.306.6874.357

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Parsons, Evelyn Patricia 1993. Screening, ethics, and the law [Letter]. British Medical Journal (BMJ) 306 (6871) , 209.2-209.2. 10.1136/bmj.306.6871.209-a

Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1993. Screening for hypertrophic cardiomyopathy. British Medical Journal (BMJ) 306 (6881) , pp. 859-860. 10.1136/bmj.306.6881.859-c

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1992. Fetal medicine and ultrasonography: a genetic perspective. Clinical Radiology 46 (1) , pp. 4-6. 10.1016/S0009-9260(05)80024-8

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Wallgren-Pettersson, Carina and Hughes, Helen E. 1992. Children with genetic diseases: who should pay? The Lancet 339 (8809) , pp. 1614-1615. 10.1016/0140-6736(92)91883-A

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Harper, Peter Stanley 1992. Genetic testing for hypertrophic cardiomyopathy. New England Journal of Medicine 327 (16) , pp. 1175-1176. 10.1056/NEJM199210153271616

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1992. Report of ENMC workshop on the limb-girdle muscular dystrophies. Journal of Medical Genetics 29 (10) , pp. 753-755. 10.1136/jmg.29.10.753

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Bradley, Don M., Gillespie, K., Rees, Dafydd Aled ORCID: https://orcid.org/0000-0002-1165-9092, Holland, A. and Thomas, Nicholas Stuart Tudor 1992. Fragile X mental retardation and the iduronate sulphatase locus: testing laird's model of fra(X) inheritance. American Journal of Medical Genetics 43 (1-2) , pp. 299-306. 10.1002/ajmg.1320430146

Zonana, J., Jones, M., Browne, D, Kramer, P., Litt, M., Barker, D., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Thomas, Nicholas Stuart Tudor and Harper, Peter Stanley 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus (EDA). American Journal of Human Genetics 49 (4) , p. 209.

Thomas, Nicholas Stuart Tudor, Davies, K. P., Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Rastan, S. and Brockdorff, N. 1991. Molecular deletion analysis in X-linked hypohidrotic ectodermal dysplasia. American Journal of Human Genetics 49 (4) , p. 205.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Cole, J. and Harper, Peter Stanley 1991. Testing of children for genetic-disorders. American Journal of Human Genetics 49 (4) , p. 179.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1991. Is non-directive genetic counselling possible? The Lancet 338 (8773) , pp. 998-1001. 10.1016/0140-6736(91)91849-P

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Burn, J. 1991. Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 28 (5) , pp. 330-333. 10.1136/jmg.28.5.330

Crawford, P. J., Aldred, M. J. and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1991. Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 28 (3) , pp. 181-185. 10.1136/jmg.28.3.181

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1991. Non-directive genetic counselling [Letter]. The Lancet 338 (8781) , p. 1524. 10.1016/0140-6736(91)92340-8

Zonana, J., Jones, M., Kramer, P., Browne, D., Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Barker, D. and Litt, M. 1991. Fine mapping of the X-linked hypohidrotic ectodermal dysplasia locus(EDA). Cytogenetics and Cell Genetics 58 (3-4) , pp. 2091-2092.

Harper, Peter Stanley and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1990. Should we test children for "adult" genetic diseases? The Lancet 335 (8699) , pp. 1205-1206. 10.1016/0140-6736(90)92713-R

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1990. Conference report: symposium on genomic imprinting, Manchester. Journal of Medical Genetics 27 (9) , pp. 595-596. 10.1136/jmg.27.9.595

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1990. Genetics, ethics, and audit. The Lancet 336 (8707) , p. 120. 10.1016/0140-6736(90)91637-P

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1990. Mitochondrial genome: defects, disease, and evolution. Journal of Medical Genetics 27 (7) , pp. 451-456. 10.1136/jmg.27.7.451

Goodship, J., Malcolm, S., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Pembrey, M. E. 1990. Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 27 (7) , pp. 422-425. 10.1136/jmg.27.7.422

Thomas, Nicholas Stuart Tudor, Williams, H., Cole, G., Roberts, K., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Liechti-Gallati, S., Braga, S., Gerber, Annelies, Meier, C. and Moser, H. 1990. X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker loci. Journal of Medical Genetics 27 (5) , pp. 284-287. 10.1136/jmg.27.5.284

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Gardner-Medwin, David, Richardson, Julian, McGann, Angela, Bonham, Julian R, Carpenter, Kevin H, Bhattacharya, Shomi, Haggerty, Daisy, Fleetwood, J Arnott and Aynsley-Green, Albert 1990. Abnormalities of carbohydrate metabolism and of oct gene function in the Rett syndrome. Brain and Development 12 (1) , pp. 119-124. 10.1016/S0387-7604(12)80191-4

Zonana, Jonathan, Sarfarazi, Mansoor, Thomas, Nicholas Stuart Tudor, Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Marymee, Kathi and Harper, Peter Stanley 1989. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. The Journal of Pediatrics 114 (3) , pp. 392-399. 10.1016/S0022-3476(89)80556-6

Crawford, Peter J. M., Aldred, Michael J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Tso, Michael S. Y. 1989. Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate: report of a case and review of the literature. Oral Surgery, Oral Medicine, Oral Pathology 67 (1) , pp. 50-62. 10.1016/0030-4220(89)90302-2

Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Thomas, Nicholas Stuart Tudor, Sarfarazi, M., Roberts, K., Marymee, K. and Harper, Peter Stanley 1988. Linkage analysis of x-linked hypohidrotic ectodermal dysplasia: implications for carrier detection and prenatal diagnosis. Journal of Medical Genetics 25 (4) , p. 274. 10.1136/jmg.25.4.274

Zonana, J., Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M., Thomas, Nicholas Stuart Tudor, Roberts, K., Marymee, K. and Harper, Peter Stanley 1988. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. American Journal of Human Genetics 43 (1) , pp. 75-85.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Phillips, D. I., Brown, R. and Harper, Peter Stanley 1987. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Archives of Disease in Childhood 62 (10) , pp. 989-996. 10.1136/adc.62.10.989

Sibert, Jonathan Richard and Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1987. Improvements in child resistant containers. Archives of Disease in Childhood 62 (4) , pp. 432-433. 10.1136/adc.62.4.432-b

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M., Thomas, Nicholas Stuart Tudor, Roberts, K. and Harper, Peter Stanley 1987. X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Human Genetics 75 (4) , pp. 378-380. 10.1007/BF00284112

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 1987. Regional localization of X-linked hypohidrotic ectodermal dysplasia(EDA). Cytogenetics and Cell Genetics 46 (1-4) , p. 594.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Sarfarazi, M. and Thomas, Nicholas Stuart Tudor 1986. Hypohidrotic ectodermal dysplasia - localization to the proximal long arm of the x-chromosome. Journal of Medical Genetics 23 (5) , p. 473.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Roberts, S. H., Thomas, N. S. and Williams, J. 1986. Duchenne muscular-dystrophy, adrenal hypoplasia, glycerol kinase-deficiency, and mental-retardation associated with XP21 intersitial deletion. Journal of Medical Genetics 23 (5) , p. 473. 10.1136/jmg.23.5.468

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Sibert, Jonathan Richard 1986. Why child cyclists should wear helmets. Practitioner 230 (1416) , pp. 513-514.

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Roberts, S. H., Thomas, Nicholas Stuart Tudor, Whitfield, A., Williams, J. and Harper, Peter Stanley 1986. Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. Journal of Medical Genetics 23 (6) , pp. 501-508. 10.1136/jmg.23.6.501

Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286 and Sibert, Jonathan Richard 1985. Hypernatraemic dehydration and necrotizing enterocolitis. Postgraduate Medical Journal 61 (711) , pp. 65-66. 10.1136/pgmj.61.711.65