Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V., Harijan, Pooja, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Dean, John, Zhang, Jiuchun, Kini, Usha, Goldberg, Alfred L. and Rubinsztein, David C. 2024. PSMC5 insufficiency and P320R mutation impair proteasome function. Human Molecular Genetics 33 (17) , pp. 1506-1523. 10.1093/hmg/ddae085 |
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 |
Pickrell, William Owen and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2023. Epilepsy genetics: a practical guide for adult neurologists. Practical Neurology 23 (2) , pp. 111-119. 10.1136/pn-2022-003623 |
Brock, Stefanie, Laquerriere, Annie, Marguet, Florent, Myers, Scott J., Hongjie, Yuan, Baralle, Diana, Vanderhasselt, Tim, Stouffs, Katrien, Keymolen, Kathelijn, Kim, Sukhan, Allen, James, Shaulsky, Gil, Chelly, Jamel, Marcorelle, Pascale, Aziza, Jacqueline, Villard, Laurent, Sacaze, Elise, de Wit, Marie C. Y., Wilke, Martina, Mancini, Grazia Maria Simonetta, Hehr, Ute, Lim, Derek, Mansour, Sahar, Traynelis, Stephen F., Beneteau, Claire, Denis-Musquer, Marie, Jansen, Anna C., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 and Bahi-Buisson, Nadia 2023. Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. Journal of Medical Genetics 60 (2) , pp. 183-192. 10.1136/jmedgenet-2021-107971 |
Vezyroglou, Aikaterini, Akilapa, Rhoda, Barwick, Katy, Koene, Saskia, Brownstein, Catherine A., Holder-Espinasse, Muriel, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Nemeth, Andrea Hilary, Tofaris, George K., Hay, Eleanor, Hughes, Imelda, Mansour, Sahar, Mordekar, Santosh R., Splitt, Miranda, Turnpenny, Peter D., Demetriou, Demetria, Koopmann, Tamara T., Ruivenkamp, Claudia A. L., Agrawal, Pankaj B., Carr, Lucinda, Clowes, Virginia, Ghali, Neeti, Holder, Susan Elizabeth, Radley, Jessica, Male, Alison, Sisodiya, Sanjay M., Kurian, Manju A, Cross, J. Helen and Balasubramanian, Meena 2022. The phenotypic continuum of ATPLA3-related disorders. Neurology 99 (14) , e1511-e1526. 10.1212/WNL.0000000000200927 |
Ragoussis, Vassilis, Pagnamenta, Alistair T., Haines, Rebecca L., Giacopuzzi, Edoardo, McClatchey, Martin A., Sampson, Julian R. ORCID: https://orcid.org/0000-0002-2902-2348, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Genomics England Research Consortium and Taylor, Jenny C. 2022. Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation. Journal of Medical Genetics 59 (4) , pp. 366-369. 10.1136/jmedgenet-2020-107528 |
Lippe, Charlotte, Tveten, Kristian, Prescott, Trine E., Holla, Øystein L., Busk, Øyvind L., Burke, Katherine B., Sansbury, Francis H., Baptista, Júlia, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Lim, Derek, Jolles, Stephen, Evans, Jennifer, Osio, Deborah, Macmillan, Carol, Bruno, Irene, Faltera, Flavio, Climent, Salvador, Urreitzi, Roser, Hoenicka, Janet, Palau, Francesc, Cohen, Ana S. A., Engleman, Kendra, Zhou, Dihong, Amudhavalli, Shivarajan M., Jeanne, Médéric, Bonnet Brilhault, Frédérique, Lévy, Jonathan, Drunat, Séverine, Derive, Nicolas, Haug, Marte G. and Thorstensen, Wenche M. 2022. Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin. American Journal of Medical Genetics Part A 188 (1) , pp. 272-282. 10.1002/ajmg.a.62492 |
Murch, Oliver, Jain, Vani, Benneche, Andreas, Metcalfe, Kay, Hobson, Emma, Prescott, Katrina, Chandler, Kate, Ghali, Neeti, Carmichael, Jenny, Foulds, Nicola C., Paulsen, Julie, Smeland, Marie F., Berland, Siren and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2022. Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature. European Journal of Human Genetics 30 , pp. 95-100. 10.1038/s41431-021-00961-3 |
Faundes, Víctor, Goh, Stephanie, Akilapa, Rhoda, Bezuidenhout, Heidre, Bjornsson, Hans T., Bradley, Lisa, Brady, Angela F., Brischoux-Boucher, Elise, Brunner, Han, Bulk, Saskia, Canham, Natalie, Cody, Declan, Dentici, Maria Lisa, Digilio, Maria Cristina, Elmslie, Frances, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Gill, Harinder, Hurst, Jane, Johnson, Diana, Julia, Sophie, Lachlan, Katherine, Lebel, Robert Roger, Byler, Melissa, Gershon, Eric, Lemire, Edmond, Gnazzo, Maria, Lepri, Francesca Romana, Marchese, Antonia, McEntagart, Meriel, McGaughran, Julie, Mizuno, Seiji, Okamoto, Nobuhiko, Rieubland, Claudine, Rodgers, Jonathan, Sasaki, Erina, Scalais, Emmanuel, Scurr, Ingrid, Suri, Mohnish, van der Burgt, Ineke, Matsumoto, Naomichi, Miyake, Noriko, Benoit, Valérie, Lederer, Damien and Banka, Siddharth 2021. Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2. Genetics in Medicine 23 (7) , 1202–1210. 10.1038/s41436-021-01119-8 |
Balasubramanian, Meena, Dingemans, Alexander J. M., Albaba, Shadi, Richardson, Ruth, Yates, Thabo M., Cox, Helen, Douzgou, Sofia, Armstrong, Ruth, Sansbury, Francis H., Burke, Katherine B., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Ragge, Nicola, Sharif, Saba, Foster, Alison, De Sandre-Giovannoli, Annachiara, Elouej, Sahar, Vasudevan, Pradeep, Mansour, Sahar, Wilson, Kate, Stewart, Helen, Heide, Solveig, Nava, Caroline, Keren, Boris, Demirdas, Serwet, Brooks, Alice S., Vincent, Marie, Isidor, Bertrand, Küry, Sebastien, Schouten, Meyke, Leenders, Erika, Chung, Wendy K., Haeringen, Arie van, Scheffner, Thomas, Debray, Francois-Guillaume, White, Susan M., Palafoll, Maria Irene Valenzuela, Pfundt, Rolph, Newbury-Ecob, Ruth and Kleefstra, Tjitske 2021. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype. European Journal of Human Genetics 29 , pp. 625-636. 10.1038/s41431-020-00769-7 |
Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D. and Banka, Siddharth 2021. Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine. Nature Communications 12 (1) , 833. 10.1038/s41467-021-21053-2 |
Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Marra, Christopher, Derrick, Anna V., Pickrell, William O., Higgins, Adam T., te Water Naude, Johann, McClatchey, Martin A., Davies, Sally J., Metcalfe, Kay A., Tan, Hui Jeen, Mohanraj, Rajiv, Avula, Shivaram, Williams, Denise, Brady, Lauren I., Mesterman, Ronit, Tarnopolsky, Mark A., Zhang, Yuehua, Yang, Ying, Wang, Xiaodong, Rees, Mark I., Goldfarb, Mitchell and Chung, Seo-Kyung 2021. Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. American Journal of Human Genetics 108 (1) , pp. 176-185. 10.1016/j.ajhg.2020.10.017 |
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 |
Zaman, Tariq, Helbig, Katherine L., Clatot, Jérôme, Thompson, Christopher H., Kang, Seok Kyu, Stouffs, Katrien, Jansen, Anna E., Verstraete, Lieve, Jacquinet, Adeline, Parrini, Elena, Guerrini, Renzo, Fujiwara, Yuh, Miyatake, Satoko, Ben-Zeev, Bruria, Bassan, Haim, Reish, Orit, Marom, Daphna, Hauser, Natalie, Vu, Thuy?Anh, Ackermann, Sally, Spencer, Careni E., Lippa, Natalie, Srinivasan, Shraddha, Charzewska, Agnieszka, Hoffman-Zacharska, Dorota, Fitzpatrick, David, Harrison, Victoria, Vasudevan, Pradeep, Joss, Shelagh, Pilz, Daniela T., Fawcett, Katherine A., Helbig, Ingo, Matsumoto, Naomichi, Kearney, Jennifer A., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 and Goldberg, Ethan M. 2020. SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation. Annals of Neurology 88 (2) , pp. 348-362. 10.1002/ana.25809 |
Durkin, Anna, Albaba, Shadi, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Morton, Jenny E., Douglas, Andrew, Beleza, Ana, Williams, Denise, Volker-Touw, Catharina M.L., Lynch, Sally A., Canham, Natalie, Clowes, Virginia, Straub, Volker, Lachlan, Katherine, Gibbon, Frances, El Gamal, Mayy, Varghese, Vinod, Parker, Michael J., Newbury-Ecob, Ruth, Turnpenny, Peter D., Gardham, Alice, Ghali, Neeti and Balasubramanian, Meena 2020. Clinical findings of 21 previously unreported probands with HNRNPU -related syndrome and comprehensive literature review. American Journal of Medical Genetics Part A 182 (7) , pp. 1637-1654. 10.1002/ajmg.a.61599 |
Aagaard Nolting, Line, Brasch-Andersen, Charlotte, Cox, Helen, Kanani, Farah, Parker, Michael, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Loddo, Sara, Novelli, Antonio, Dentici, Maria Lisa, Joss, Shelagh, Jørgensen, Joan P. and Fagerberg, Christina R. 2020. A new 1p36.13‐1p36.12 microdeletion syndrome characterized by learning disability, behavioral abnormalities, and ptosis. Clinical Genetics 97 (6) , pp. 927-932. 10.1111/cge.13739 |
Yates, Thabo M., Drucker, Morgan, Barnicoat, Angela, Low, Karen, Gerkes, Erica H., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Parker, Michael J., O'Driscoll, Mary, Charles, Perrine, Cox, Helen, Marey, Isabelle, Keren, Boris, Rinne, Tuula, McEntagart, Meriel, Ramachandran, Vijaya, Drury, Suzanne, Vansenne, Fleur, Sival, Deborah A., Herkert, Johanna C., Callewaert, Bert, Tan, Wen-Hann and Balasubramanian, Meena 2020. ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum. Human Mutation 41 (5) , pp. 1042-1050. 10.1002/humu.24001 |
Vandervore, Laura V., Schot, Rachel, Milanese, Chiara, Smits, Daphne J., Kasteleijn, Esmee, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Pilz, Daniela T., Brock, Stefanie, Börklü-Yücel, Esra, Post, Marco, Bahi-Buisson, Nadia, Sánchez-Soler, María José, van Slegtenhorst, Marjon, Keren, Boris, Afenjar, Alexandra, Coury, Stephanie A., Tan, Wen-Hann, Oegema, Renske, de Vries, Linda S., Fawcett, Katherine A., Nikkels, Peter G.J., Bertoli-Avella, Aida, Al Hashem, Amal, Alwabel, Abdulmalik A., Tlili-Graiess, Kalthoum, Efthymiou, Stephanie, Zafar, Faisal, Rana, Nuzhat, Bibi, Farah, Houlden, Henry, Maroofian, Reza, Person, Richard E., Crunk, Amy, Savatt, Juliann M., Turner, Lisbeth, Doosti, Mohammad, Karimiani, Ehsan Ghayoor, Saadi, Nebal Waill, Akhondian, Javad, Lequin, Maarten H., Kayserili, Hülya, van der Spek, Peter J., Jansen, Anna C., Kros, Johan M., Verdijk, Robert M., Milosevic, Natasa Jovanov, Fornerod, Maarten, Mastroberardino, Pier Giorgio and Mancini, Grazia M.S. 2019. TMX2 Is a crucial regulator of cellular redox state, and Its dysfunction causes severe brain developmental abnormalities. American Journal of Human Genetics 105 (6) , pp. 1126-1147. 10.1016/j.ajhg.2019.10.009 |
Angius, Andrea, Uva, Paolo, Oppo, Manuela, Buers, Insa, Persico, Ivana, Onano, Stefano, Cuccuru, Gianmauro, Van Allen, Margot I., Hulait, Gurdip, Aubertin, Gudrun, Muntoni, Francesco, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Annerén, Göran, Stattin, Eva-Lena, Palomares-Bralo, María, Santos-Simarro, Fernando, Cucca, Francesco, Crisponi, Giangiorgio, Rutsch, Frank and Crisponi, Laura 2019. Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses. Clinical Genetics 95 (5) , pp. 607-614. 10.1111/cge.13532 |
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 |
Romaniello, Romina, Arrigoni, Filippo, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Bassi, Maria T., Rees, Mark I., Borgatti, Renato, Pilz, Daniela T. and Cushion, Thomas D. 2018. Tubulin genes and malformations of cortical development. European Journal of Medical Genetics 61 (12) , pp. 744-754. 10.1016/j.ejmg.2018.07.012 |
O'Neill, Adam C., Kyrousi, Christina, Klaus, Johannes, Leventer, Richard J., Kirk, Edwin P., Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Pilz, Daniela T., Morgan, Tim, Jenkins, Zandra A., Drukker, Micha, Berkovic, Samuel F., Scheffer, Ingrid E., Guerrini, Renzo, Markie, David M., Götz, Magdalena, Cappello, Silvia and Robertson, Stephen P. 2018. A primate-specific isoform of PLEKHG6 regulates neurogenesis and neuronal migration. Cell Reports 25 (10) , pp. 2729-2741. 10.1016/j.celrep.2018.11.029 |
Turnpenny, Peter D., Wright, Michael J., Sloman, Melissa, Caswell, Richard, van Essen, Anthony J., Gerkes, Erica, Pfundt, Rolph, White, Susan M., Shaul-Lotan, Nava, Carpenter, Lori, Schaefer, G. Bradley, Fryer, Alan, Innes, A. Micheil, Forbes, Kirsten P., Chung, Wendy K., McLaughlin, Heather, Henderson, Lindsay B., Roberts, Amy E., Heath, Karen E., Paumard-Hernández, Beatriz, Gener, Blanca, Fawcett, Katherine A., Gjergja-Juraski, Romana, Pilz, Daniela T. and Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924 2018. Missense mutations of the Pro65 residue of PCGF2 cause a recognizable syndrome associated with craniofacial, neurological, cardiovascular, and skeletal features. American Journal of Human Genetics 103 (5) , pp. 786-793. 10.1016/j.ajhg.2018.09.012 |
Gardner, Jennifer, Cushion, Thomas, Niotakis, Georgios, Olson, Heather, Grant, P., Scott, Richard, Stoodley, Neil, Cohen, Julie, Naidu, Sakkubai, Attie-Bitach, Tania, Bonnières, Maryse, Boutaud, Lucile, Encha-Razavi, Férechté, Palmer-Smith, Sheila, Mugalaasi, Hood, Mullins, Jonathan, Pilz, Daniela and Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924 2018. Clinical and functional characterization of the recurrent TUBA1A p.(Arg2His) mutation. Brain Sciences 8 (8) , 145. 10.3390/brainsci8080145 |
Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Fawcett, Katherine A., Zelnik, Nathanel, Yuan, Hongjie, Thompson, Belinda A. N., Shemer-Meiri, Lilach, Cushion, Thomas D., Mugalaasi, Hood, Sims, David, Stoodley, Neil, Chung, Seo-Kyung, Rees, Mark I., Patel, Chirag V., Brueton, Louise A., Layet, Valérie, Giuliano, Fabienne, Kerr, Michael P., Banne, Ehud, Meiner, Vardiella, Lerman-Sagie, Tally, Helbig, Katherine L., Kofman, Laura H., Knight, Kristin M., Chen, Wenjuan, Kannan, Varun, Hu, Chun, Kusumoto, Hirofumi, Zhang, Jin, Swanger, Sharon A., Shaulsky, Gil H., Mirzaa, Ghayda M., Muir, Alison M., Mefford, Heather C., Dobyns, William B., Mackenzie, Amanda B., Mullins, Jonathan G. L., Lemke, Johannes R., Bahi-Buisson, Nadia, Traynelis, Stephen F., Iago, Heledd F. and Pilz, Daniela T. 2018. De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. Brain 141 (3) , pp. 698-712. 10.1093/brain/awx358 |
Myers, Kenneth A., White, Susan M., Mohammed, Shehla, Metcalfe, Kay A., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Wraige, Elisabeth, Vasudevan, Pradeep C., Balasubramanian, Meena and Scheffer, Ingrid E. 2018. Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome. Epilepsy Research 140 , pp. 166-170. 10.1016/j.eplepsyres.2018.01.014 |
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury-Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L. and Ellard, Sian 2018. Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing. Prenatal Diagnosis 38 (1) , pp. 33-43. 10.1002/pd.5175 |
Hamdan, Fadi F., Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Schneider, Amy, Hollingsworth, Georgie, FitzPatrick, David R., Donaldson, Alan, Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Chung, Wendy K., Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Jones, Dean, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O?Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Lalani, Seema R., Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D?Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A. and Michaud, Jacques L. 2017. High rate of recurrent De Novo mutations in developmental and epileptic encephalopathies. American Journal of Human Genetics 101 (5) , pp. 664-685. 10.1016/j.ajhg.2017.09.008 |
Balasubramanian, M, Willoughby, J, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Weber, A, Firth, H V, Deshpande, C, Berg, J N, Chandler, K, Metcalfe, K A, Lam, W, Pilz, D T and Tomkins, S 2017. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Journal of Medical Genetics 10.1136/jmedgenet-2016-104360 |
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 |
Urquhart, J.E., Beaman, G., Byers, H., Roberts, N.A., Chervinsky, E., O'Sullivan, J., Pilz, Daniela, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Williams, S.G., Bhaskar, S.S., Khayat, M., Simanovsky, N., Shachar, I.B., Shalev, S.A. and Newman, W.G. 2016. DMRTA2 (DMRT5) is mutated in a novel cortical brain malformation. Clinical Genetics 89 (6) , pp. 724-727. 10.1111/cge.12734 |
Mirzaa, Ghayda M., Parry, David A., Fry, Andrew E. ORCID: https://orcid.org/0000-0001-9778-6924, Giamanco, Kristin A., Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V., Roberts, Nicola, Johnson, Colin A., Singh, Shawn, Kholmanskikh, Stanislav S., Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T., Braun, Kees P. J., Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W., Mancini, Grazia M. S., Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kym M., Pilz, Daniela T., Ross, M. Elizabeth, Dobyns, William B. and Sheridan, Eamonn G. 2014. De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. Nature Genetics 46 , pp. 510-515. 10.1038/ng.2948 |
Cushion, Thomas D., Dobyns, William B., Mullins, Jonathan G. L., Stoodley, Neil, Chung, Seo-Kyung, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Hehr, Ute, Gunny, Roxana, Aylsworth, Arthur S., Prabhakar, Prab, Uyanik, Gokhan, Rankin, Julia, Rees, Mark I. and Pilz, Daniela T. 2013. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 136 (2) , pp. 536-548. 10.1093/brain/aws338 |
Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Kerr, Michael Patrick, Gibbon, Frances, Turnpenny, Peter D., Hamandi, Khalid, Stoodley, Neil, Robertson, Stephen and Pilz, Daniela T. 2013. Neuropsychiatric disease in patients with periventricular heterotopia. The Journal of Neuropsychiatry & Clinical Neurosciences 25 (1) , pp. 26-31. 10.1176/appi.neuropsych.11110336 |
Rivière, Jean-Baptiste, van Bon, Bregje W. M., Hoischen, Alexander, Kholmanskikh, Stanislav S., O'Roak, Brian J., Gilissen, Christian, Gijsen, Sabine, Sullivan, Christopher T., Christian, Susan L., Abdul-Rahman, Omar A., Atkin, Joan F., Chassaing, Nicolas, Drouin-Garraud, Valerie, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Fryns, Jean-Pierre, Gripp, Karen W., Kempers, Marlies, Kleefstra, Tjitske, Mancini, Grazia M. S., Nowaczyk, Malgorzata J. M., van Ravenswaaij-Arts, Conny M. A., Roscioli, Tony, Marble, Michael, Rosenfeld, Jill A., Siu, Victoria M., de Vries, Bert B. A., Shendure, Jay, Verloes, Alain, Veltman, Joris A., Brunner, Han G., Ross, M. Elizabeth, Pilz, Daniela T. and Dobyns, William B. 2012. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome [Letter]. Nature Genetics 44 (4) , pp. 440-444. 10.1038/ng.1091 |
Jallow, Muminatou, Teo, Yik Ying, Small, Kerrin S., Rockett, Kirk A., Deloukas, Panos, Clark, Taane G., Kivinen, Katja, Bojang, Kalifa A., Conway, David J., Pinder, Margaret, Sirugo, Giorgio, Sisay-Joof, Fatou, Usen, Stanley, Auburn, Sarah, Bumpstead, Suzannah J., Campino, Susana, Coffey, Alison, Dunham, Andrew, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Green, Angela, Gwilliam, Rhian, Hunt, Sarah, Inouye, Michael, Jeffreys, Anna E., Mendy, Alieu, Palotie, Aarno, Potter, Simon, Ragoussis, Jiannis, Rogers, Jane, Rowlands, Kate, Somaskantharajah, Elilan, Whittaker, Pamela, Widden, Claire, Donnelly, Peter, Howie, Bryan, Marchini, Jonathan, Morris, Andrew, SanJoaquin, Miguel, Achidi, Eric Akum, Agbenyega, Tsiri, Allen, Angela, Amodu, Olukemi, Corran, Patrick, Djimde, Abdoulaye, Dolo, Amagana, Doumbo, Ogobara K., Drakeley, Chris, Dunstan, Sarah, Evans, Jennifer, Farrar, Jeremy, Fernando, Deepika, Hien, Tran Tinh, Horstmann, Rolf D., Ibrahim, Muntaser, Karunaweera, Nadira, Kokwaro, Gilbert, Koram, Kwadwo A., Lemnge, Martha, Makani, Julie, Marsh, Kevin, Michon, Pascal, Modiano, David, Molyneux, Malcolm E., Mueller, Ivo, Parker, Michael, Peshu, Norbert, Plowe, Christopher V., Puijalon, Odile, Reeder, John, Reyburn, Hugh, Riley, Eleanor M., Sakuntabhai, Anavaj, Singhasivanon, Pratap, Sirima, Sodiomon, Tall, Adama, Taylor, Terrie E., Thera, Mahamadou, Troye-Blomberg, Marita, Williams, Thomas N., Wilson, Michael and Kwiatkowski, Dominic P. 2009. Genome-wide and fine-resolution association analysis of malaria in West Africa. Nature Genetics 41 (6) , pp. 657-665. 10.1038/ng.388 |
Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Ghansa, Anita, Small, Kerrin S., Palma, Alejandro, Auburn, Sarah, Diakite, Mahamadou, Green, Angela, Campino, Susana, Teoh, Yin Yoong Jimmy, Clark, Taane G., Jeffreys, Anna E., Wilson, Jonathan, Jallow, Muminatou, Sisay-Joof, Fatou, Pinder, Margaret, Griffiths, Michael J., Peshu, Norbert, Williams, Thomas N., Newton, Charles R., Marsh, Kevin, Molyneux, Malcolm E., Taylor, Terrie E., Koram, Kwadwo, Oduro, Abraham R., Rogers, William O., Rockett, Kirk A., Sabeti, Pardis C. and Kwiatkowski, Dominic P. 2009. Positive selection of a CD36 nonsense variant in sub-Saharan Africa, but no association with severe malaria phenotypes. Human Molecular Genetics 18 (14) , pp. 2683-2692. 10.1093/hmg/ddp192 |
Teoh, Yin Yoong Jimmy, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Bhattacharya, Kanishka, Small, Kerrin S., Kwiatkowski, Dominic P. and Clark, Taane G. 2009. Genome-wide comparisons of variation in linkage disequilibrium. Genome Research 19 (10) , pp. 1849-1860. 10.1101/gr.092189.109 |
Campino, Susana, Forton, Julian ORCID: https://orcid.org/0000-0002-0580-0432, Auburn, Sarah, Fry, Andrew ORCID: https://orcid.org/0000-0001-9778-6924, Diakite, Mahamadou, Richardson, Anne, Hull, Jeremy, Jallow, Muminatou, Sisay-Joof, Fatou, Pinder, Margaret, Molyneux, Malcolm E, Taylor, Terrie E, Rockett, Kirk, Clark, Taane G and Kwiatkowski, Dominic P 2009. TLR9 polymorphisms in African populations: no association with severe malaria, but evidence of cis-variants acting on gene expression. Malaria Journal 8 (1) 10.1186/1475-2875-8-44 |
Wei, Christina, Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Gregory, John Welbourn ORCID: https://orcid.org/0000-0001-5189-3812, Procter, Annie M. and Warner, Justin T. 2008. Central precocious puberty in a patient with adrenal hypoplasia congenita [Poster presentation abstract]. Hormone Research 70 (S1) 10.1159/000157533 |
Fry, Andrew Evan ORCID: https://orcid.org/0000-0001-9778-6924, Griffiths, Michael J., Auburn, Sarah, Diakite, Mahamadou, Forton, Julian T., Green, Angela, Richardson, Anna, Wilson, Jonathan, Jallow, Muminatou, Sisay-Joof, Fatou, Pinder, Margaret, Peshu, Norbert, Williams, Thomas N., Marsh, Kevin, Molyneux, Malcolm E., Taylor, Terrie E., Rockett, Kirk A. and Kwiatkowski, Dominic P. 2007. Common variation in the ABO glycosyltransferase is associated with susceptibility to severe 'Plasmodium falciparum' malaria. Human Molecular Genetics 17 (4) , pp. 567-576. 10.1093/hmg/ddm331 |