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Number of items: 46.

Efthymiou, Stephanie, Leo, Cailyn P., Deng, Chenghong, Lin, Sheng-Jia, Maroofian, Reza, Lin, Renee, Karagoz, Irem, Zhang, Kejia, Kaiyrzhanov, Rauan, Scardamaglia, Annarita, Owrang, Daniel, Turchetti, Valentina, Jahnke, Friederike, Huang, Kevin, Petree, Cassidy, Derrick, Anna V., Rees, Mark I., Alvi, Javeria Raza, Sultan, Tipu, Li, Chumei, Jacquemont, Marie-Line, Tran-Mau-Them, Frederic, Valenzuela-Palafoll, Maria, Sidlow, Rich, Yoon, Grace, Morrow, Michelle M., Carere, Deanna Alexis, O'Connor, Mary, Fleischer, Julie, Gerkes, Erica H., Phornphutkul, Chanika, Isidor, Bertrand, Rivier-Ringenbach, Clotilde, Philippe, Christophe, Kurul, Semra Hiz, Soydemir, Didem, Kara, Bulent, Sunnetci-Akkoyunlu, Deniz, Bothe, Viktoria, Platzer, Konrad, Wieczorek, Dagmar, Koch-Hogrebe, Margarete, Rahner, Nils, Thuresson, Ann-Charlotte, Matsson, Hans, Frykholm, Carina, Bozdoğan, Sevcan Tuğ, Bisgin, Atil, Chatron, Nicolas, Lesca, Gaetan, Cabet, Sara, Tümer, Zeynep, Hjortshøj, Tina D., Rønde, Gitte, Marquardt, Thorsten, Reunert, Janine, Afzal, Erum, Zamani, Mina, Azizimalamiri, Reza, Galehdari, Hamid, Nourbakhsh, Pardis, Chamanrou, Niloofar, Chung, Seo-Kyung, Suri, Mohnish, Benke, Paul J., Zaki, Maha S., Gleeson, Joseph G., Calame, Daniel G., Pehlivan, Davut, Yilmaz, Halil I., Gezdirici, Alper, Rad, Aboulfazl, Abumansour, Iman Sabri, Oprea, Gabriela, Bereketoğlu, Muhammed Burak, Banneau, Guillaume, Julia, Sophie, Zeighami, Jawaher, Ashoori, Saeed, Shariati, Gholamreza, Sedaghat, Alireza, Sabri, Alihossein, Hamid, Mohammad, Parvas, Sahere, Tajudin, Tajul Arifin, Abdullah, Uzma, Baig, Shahid Mahmood, Chung, Wendy K., Glazunova, Olga O., Sabine, Sigaudy, Cheema, Huma Arshad, Zifarelli, Giovanni, Bauer, Peter, Sidpra, Jai, Mankad, Kshitij, Vona, Barbara, Fry, Andrew E.

, Varshney, Gaurav K., Houlden, Henry and Fu, Dragony 2025. Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder. American Journal of Human Genetics 112 (5) , pp. 1117-1138. 10.1016/j.ajhg.2025.03.015

Maddison, Robert, Reed, Karen R.

, Cannings-John, Rebecca

, Lugg-Widger, Fiona

, Stoneman, Thomas, Anderson, Sarah and Fry, Andrew E.

2025. Adapting historical clinical genetic test records for anonymised data linkage: obstacles and opportunities. International Journal of Population Data Science 8 (5) , pp. 1-6. 10.23889/ijpds.v8i5.2924

Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A. Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E.

, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A., Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J., Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N., Monaghan, Kristin G., Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C., Rosenblum, Jessica, Haack, Tobias B., Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B., Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C., Frydman, Judith, Elbracht, Miriam and Kurth, Ingo 2024. Brain malformations and seizures by impaired chaperonin function of TRiC. Science 386 (6721) , pp. 516-525. 10.1126/science.adp8721

Yu, Zhong-Qiu, Carmichael, Jenny, Collins, Galen A, D'Agostino, Maria Daniela, Lessard, Mathieu, Firth, Helen V., Harijan, Pooja, Fry, Andrew E.

, 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.

, 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.

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

XiangWei, Wenshu, Perszyk, Riley E., Liu, Nana, Xu, Yuchen, Bhattacharya, Subhrajit, Shaulsky, Gil H., Smith-Hicks, Constance, Fatemi, Ali, Fry, Andrew E.

, Chandler, Kate, Wang, Tao, Vogt, Julie, Cohen, Julie S., Paciorkowski, Alex R., Poduri, Annapurna, Zhang, Yuehua, Wang, Shuang, Wang, Yuping, Zhai, Qiongxiang, Fang, Fang, Leng, Jie, Garber, Kathryn, Myers, Scott J., Jauss, Robin-Tobias, Park, Kristen L., Benke, Timothy A., Lemke, Johannes R., Yuan, Hongjie, Jiang, Yuwu and Traynelis, Stephen F. 2023. Clinical and functional consequences of GRIA variants in patients with neurological diseases. Cellular and Molecular Life Sciences 80 (11) , 345. 10.1007/s00018-023-04991-6

Pickrell, William Owen and Fry, Andrew E.

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.

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.

, 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.

, Suri, Mohnish, Gardham, Alice, Cobben, Jan-Maarten, Osio, Deborah, Fry, Andrew E.

, 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.

, 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.

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.

, 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.

, 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.

, 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.

, 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.

and Fry, Andrew E.

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.

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.

, 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.

, 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.

, 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.

, 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.

, 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

, 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

, 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

, 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

, 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

, 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

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, 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

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This list was generated on Tue Nov 11 09:47:17 2025 GMT.