Browse by All Cardiff Authors

Jezkova, Jana, Shaw, Sophie, Taverner, Nicola V. and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2022. Rapid genome sequencing for pediatrics. Human Mutation: Variation, Informatics and Disease 43 (11) , pp. 1507-1518. 10.1002/humu.24466

Akin, Leyla, Rizzoti, Karine, Gregory, Louise C., Corredor, Beatriz, Le Quesne Stabej, Polona, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Buonocore, Federica, Mouilleron, Stephane, Capra, Valeria, McGlacken-Byrne, Sinead M., Martos-Moreno, Gabriel Á., Azmanov, Dimitar N., Kendirci, Mustafa, Kurtoglu, Selim, Suntharalingham, Jenifer P., Galichet, Christophe, Gustincich, Stefano, Tasic, Velibor, Achermann, John C., Accogli, Andrea, Filipovska, Aleksandra, Tuilpakov, Anatoly, Maghnie, Mohamad, Gucev, Zoran, Gonen, Zeynep Burcin, Pérez-Jurado, Luis A., Robinson, Iain, Lovell-Badge, Robin, Argente, Jesús and Dattani, Mehul T. 2022. Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. Genetics in Medicine 24 (2) , pp. 384-397. 10.1016/j.gim.2021.09.019

McGlacken-Byrne, Sinéad M., Le Quesne Stabej, Polona, Del Valle, Ignacio, Ocaka, Louise, Gagunashvili, Andrey, Crespo, Berta, Moreno, Nadjeda, James, Chela, Bacchelli, Chiara, Dattani, Mehul T., Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Kelberman, Dan, Achermann, John C. and Conway, Gerard S. 2022. ZSWIM7 Is associated with human female meiosis and familial primary ovarian insufficiency. Journal of Clinical Endocrinology and Metabolism 107 (1) , e254-e263. 10.1210/clinem/dgab597

Hong, Ying, Keylock, Annette, Jensen, Barbara, Jacques, Thomas S., Ogunbiyi, Olumide, Omoyinmi, Ebun, Saunders, Dawn, Mallick, Andrew A., Tooley, Madeleine, Newbury-Ecob, Ruth, Rankin, Julia, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Ganesan, Vijeya, Brogan, Paul A. and Eleftheriou, Despina 2020. Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene. Neurology Genetics 6 (4) , e448. 10.1212/NXG.0000000000000448

Balogh, Eszter, Chandler, Jennifer C., Varga, Máté, Tahoun, Mona, Menyhárd, Dóra K., Schay, Gusztáv, Goncalves, Tomas, Hamar, Renáta, Légrádi, Regina, Szekeres, Ákos, Gribouval, Olivier, Kleta, Robert, Stanescu, Horia, Bockenhauer, Detlef, Kerti, Andrea, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Kinsler, Veronica, Di, Wei-Li, Curtis, David, Kolatsi-Joannou, Maria, Hammid, Hafsa, Sz?cs, Anna, Perczel, Kristóf, Maka, Erika, Toldi, Gergely, Sava, Florentina, Arrondel, Christelle, Kardos, Magdolna, Fintha, Attila, Hossain, Ahmed, D'Arco, Felipe, Kaliakatsos, Mario, Koeglmeier, Jutta, Mifsud, William, Moosajee, Mariya, Faro, Ana, Jávorszky, Eszter, Rudas, Gábor, Saied, Marwa H., Marzouk, Salah, Kelen, Kata, Götze, Judit, Reusz, George, Tulassay, Tivadar, Dragon, François, Mollet, Géraldine, Motameny, Susanne, Thiele, Holger, Dorval, Guillaume, Nürnberg, Peter, Perczel, András, Szabó, Attila J., Long, David A., Tomita, Kazunori, Antignac, Corinne, Waters, Aoife M. and Tory, Kálmán 2020. Pseudouridylation defect due toDKC1andNOP10mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis. Proceedings of the National Academy of Sciences 117 (26) , pp. 15137-15147. 10.1073/pnas.2002328117

Gregory, Louise C., Shah, Pratik, Sanner, Juliane R. F., Arancibia, Monica, Hurst, Jane, Jones, Wendy D., Spoudeas, Helen, Le Quesne Stabej, Polona, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Ocaka, Louise A., Loureiro, Carolina, Martinez-Aguayo, Alejandro and Dattani, Mehul T. 2019. Mutations in MAGEL2 and L1CAM are associated with congenital hypopituitarism and arthrogryposis. Journal of Clinical Endocrinology and Metabolism 104 (12) , pp. 5737-5750. 10.1210/jc.2019-00631

Cerbone, M., Clement, E., Mcclatchey, M., Dobbin, J., Gilbert, C., Keane, M., Boukhibar, L., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Gagunashvili, A., Dattani, M.T., Hurst, J. and Shah, P. 2019. Sotos Syndrome presenting with neonatal hyperinsulinaemic hypoglycaemia, extensive thrombosis, and multisystem involvement. Hormone Research in Paediatrics 92 (1) , pp. 64-70. 10.1159/000496545

Peters, Mark J. and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2019. Information is the resolution of uncertainty. Pediatric Critical Care Medicine 20 (11) , pp. 1087-1088. 10.1097/PCC.0000000000002091

Peters, Mark J. and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2019. Information is the resolution of uncertainty: whole genome approaches to genetic diagnosis on the PICU*. Pediatric Critical Care Medicine 20 (11) , pp. 1087-1088. 10.1097/PCC.0000000000002091

Gregory, Louise C., Ferreira, Carolina B., Young-Baird, Sara K., Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Harakalova, Magdelena, van Haaften, Gijs, Rahman, Sofia A., Gaston-Massuet, Carles, Kelberman, Daniel, GOSgene, Qasim, Waseem, Camper, Sally A., Dever, Thomas E., Shah, Pratik, Robinson, Iain C .A. F. and Dattani, Mehul T. 2019. Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation. EBioMedicine 42 , pp. 470-480. 10.1016/j.ebiom.2019.03.013

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

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Mestek-Boukhibar, Lamia, Clement, Emma, Jones, Wendy D., Drury, Suzanne, Ocaka, Louise, Gagunashvili, Andrey, Le Quesne Stabej, Polona, Bacchelli, Chiara, Jani, Nital, Rahman, Shamima, Jenkins, Lucy, Hurst, Jane A., Bitner-Glindzicz, Maria, Peters, Mark, Beales, Philip L. and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2018. Rapid Paediatric Sequencing (RaPS): Comprehensive real-life workflow for rapid diagnosis of critically ill children. Journal of Medical Genetics 55 (11) , pp. 721-728. 10.1136/jmedgenet-2018-105396

Martin, C.-A., Sarlos, K., Logan, C.V., Thakur, R.S., Parry, D.A., Bizard, A.H., Leitch, A., Cleal, L., Ali, N.S., Al-Owain, M.A., Allen, W., Altmuller, J., Aza-Carmona, M., Barakat, B.A.Y., Barraza-Garcia, J., Begtrup, A., Bogliolo, M., Cho, M.T., Cruz-Rojo, J., Dhahrabi, H.A.M., Elcioglu, N.H., Gorman, G.S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A.J., Nurnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M.J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R.W., Turner, L., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F.S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K.E., Hickson, I.D. and Jackson, A.P. 2018. Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. American Journal of Human Genetics 103 (3) , p. 456. 10.1016/j.ajhg.2018.08.012

Martin, Carol-Anne, Sarlos, Kata, Logan, Claire V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmuller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A. Y., Barraza-Garcia, Jimena, Begtrup, Amber, Bogliolo, Masimo, Cho, Megan T., Cruz-Rojo, Jamie, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Grainne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nurnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria Jose, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Wilson, Carolyn, Yigit, Gokhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesias, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D. and Jackson, Andrew P. 2018. Mutations in TOP3A cause a Bloom syndrome-like disorder. American Journal of Human Genetics 103 (2) , pp. 221-231. 10.1016/j.ajhg.2018.07.001

Apps, John R., Carreno, Gabriela, Gonzalez-Meljem, Jose Mario, Haston, Scott, Guiho, Romain, Cooper, Julie E., Manshaei, Saba, Jani, Nital, Holsken, Annett, Pettorini, Benedetta, Beynon, Robert J., Simpson, Deborah M., Fraser, Helen C., Hong, Ying, Hallang, Shirleen, Stone, Thomas J., Virasami, Alex, Donson, Andrew M., Jones, David, Aquilina, Kristian, Spoudeas, Helen, Joshi, Abhijit R., Grundy, Richard, Storer, Lisa C. D., Korbonits, Marta, Hilton, David A., Tossell, Kyoko, Thavaraj, Selvam, Ungless, Mark A., Gil, Jesus, Buslei, Rolf, Hankinson, Todd, Hargrave, Darren, Goding, Colin, Andoniadou, Cynthia L., Brogan, Paul, Jacques, Thomas S., Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 and Martinez-Barbera, Juan Pedro 2018. Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target. Acta Neuropathologica 135 , pp. 757-777. 10.1007/s00401-018-1830-2

Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A., Patel, Mitali P., Robson, Evelyn A., Hayward, Jane, Scully, Juliet, Fassad, Mamhoud R., Lamb, William, Schmidts, Miriam, Dixon, Mellisa, Patel-King, Ramila S., Rogers, Andrew V., Rutman, Andrew, Jackson, Claire L., Goggin, Patrica, Rubbo, Bruna, Ollosson, Sarah, Carr, Siobhan, Walker, Woolf, Adler, Beryl, Loebinger, Michael R., Wilson, Robert, Bush, Andrew, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Chung, Eddie M. K., Watson, ChristopherM., Cullup, Thomas, Lucas, Jand S., Kenia, Priti, O{'Callaghan, Christopher, King, Stephen M., Hogg, Claire and Mitchison, Hannah M. 2018. High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax 73 (2) , pp. 157-166. 10.1136/thoraxjnl-2017-209999

Reid, E.S., Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Anderson, G., Benatti, M., Chong, K., James, C., Ocaka, L., Hemingway, C., Little, D., Brown, R., Parker, A., Holden, S., Footitt, E., Rahman, S., Gissen, P., Mills, P.B. and Clayton, P.T. 2017. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Journal of Inherited Metabolic Disease 40 (3) , pp. 385-394. 10.1007/s10545-017-0025-7

Olcese, Chiara, Patel, Mitali P., Shoemark, Amelia, Kiviluoto, Santeri, Legendre, Marie, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Vaughan, Cara K., Hayward, Jane, Goldenberg, Alice, Emes, Richard D., Munye, Mustafa M., Dyer, Laura, Cahill, Thomas, Bevillard, Jeremy, Gehrig, Corinne, Guipponi, Michel, Chantot, Sandra, Duquesnoy, Philippe, Thomas, Lucie, Jeanson, Ludovic, Copin, Bruno, Tamalet, Aline, Thauvin-Robinet, Christel, Papon, Jean-Francois, Garin, Antoine, Pin, Isabelle, Vera, Gabriella, Aurora, Paul, Fassad, Mahmoud R., Jenkins, Lucy, Boustred, Christopher, Cullup, Thomas, Dixon, Mellisa, Onoufriadis, Alexandros, Bush, Andrew, Chung, Eddie M. K., Antonarakis, Stylianos E., Loebinger, Michael R., Wilson, Robert, Armengot, Miguel, Escudier, Estelle, Hogg, Claire, Amselem, Serge, Sun, Zhaoxia, Bartoloni, Lucia, Blouin, Jean-Louis and Mitchison, Hannah M. 2017. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nature Communications 8 , 14279. 10.1038/ncomms14279

Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 and Bitner-Glindzicz, Maria 2017. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet Journal of Rare Diseases 12 , 24. 10.1186/s13023-017-0582-8

Oud, Machteld M., Tuijnenburg, Paul, Hempel, Maja, van Vlies, Naomi, Ren, Zemin, Ferdinandusse, Sacha, Jansen, Machiel H., Santer, Rene, Johannsen, Jessika, Bacchelli, Chiara, Alders, Marielle, Li, Rui, Davies, Rosalind, Dupuis, Lucie, Cale, Catherine M., Wanders, Ronald J. A., Pals, Steven T., Ocaka, Louise, James, Chela, Muller, Ingo, Lehmberg, Kai, Strom, Tim, Engels, Hartmut, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Beales, Phil, Roepman, Ronald, Dias, Patricia, Brunner, Hans G., Cobben, Jan-Maarten, Hall, Christine, Hartley, Talia, Le Quesne Stabej, Polona, Mendoza-Londono, Roberto, Davies, E. Graham, de Sousa, Sergio B., Lessel, Davor, Arts, Heleen H. and Kuijpers, Taco W. 2017. Mutations in EXTL3 cause neuro-immuno-skeletal dysplasia syndrome. American Journal of Human Genetics 100 (2) , pp. 281-296. 10.1016/j.ajhg.2017.01.013

Reid, E.S., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Stabej, P.L.Q., James, C., Ocaka, L., Bacchelli, C., Footitt, E.J., Boyd, S., Cleary, M.A., Mills, P.B. and Clayton, P.T. 2016. Seizures due to a KCNQ2 mutation: Treatment with vitamin B6. Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima and Zschocke, Johannes, eds. JIMD Reports,, Vol. 27. Berlin and Heidelberg: Springer, pp. 79-84.

Bacchelli, Chiara and Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312 2016. Opportunities and technical challenges in next-generation sequencing for diagnosis of rare pediatric diseases. Expert Review of Molecular Diagnostics 16 (10) , pp. 1073-1082. 10.1080/14737159.2016.1222906

Le Quesne Stabej, P., Williams, H.J. ORCID: https://orcid.org/0000-0001-7758-0312, James, C., Tekman, M., Stanescu, H.C., Kleta, R., Ocaka, L., Lescai, F., Storr, H.L., Bitner-Glindzicz, M., Bacchelli, C., Conway, G.S. and Sgene, G.O. 2016. STAG3 truncating variant as the cause of primary ovarian insufficiency. European Journal of Human Genetics 24 (1) , pp. 135-138. 10.1038/ejhg.2015.107

Drury, S., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Trump, N., Boustred, C., Lench, N., Scott, R.H., Chitty, L.S. and GOSGene 2015. Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities. Prenatal Diagnosis 35 (10) , pp. 1010-1017. 10.1002/pd.4675

Williams, H.J. ORCID: https://orcid.org/0000-0001-7758-0312, Hurst, J.R., Ocaka, L., James, C., Pao, C., Chanudet, E., Lescai, F., Stanescu, H.C., Kleta, R., GOSgene, Rosser, E., Bacchelli, C. and Beales, P. 2015. The use of whole-exome sequencing to disentangle complex phenotypes. European Journal of Human Genetics 24 (2) , pp. 298-301. 10.1038/ejhg.2015.121

Thomas, A.C., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Seto-Salvia, S., Bacchelli, C., Jenkins, D., O'Sullivan, M., Mengrelis, K., Ishida, M., Ocaka, L., Chanudet, E., James, C., Lescai, F., Anderson, G., Morrogh, D., Ryten, M., Duncan, A.J., Pai, Y.J., Saraiva, J.M., Ramos, F., Farren, B., Saunders, D., Vernay, B., Gissen, P., Straatmaan-Iwanowska, A., Baas, F., Wood, N.W., Hersheson, J., Houlden, H., Hurst, J., Scott, R., Bitner-Glindzicz, M., Moore, G.E., Sousa, S.B. and Stanier, P. 2015. Erratum: Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome (American Journal of Human Genetics (2014) 95 (611–621)). American Journal of Human Genetics 96 (6) , pp. 1008-1009. 10.1016/j.ajhg.2015.05.010

Thomas, Anna C., Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Seto-Salvia, Nuria, Bacchelli, Chiara, Jenkins, Dagan, O'Sullivan, Mary, Mengrelis, Konstantinos, Ishida, Miho, Ocaka, Louise, Chanudet, Estelle, James, Chela, Lescai, Francesco, Anderson, Glenn, Morrogh, Deborah, Ryten, Mina, Duncan, Andrew J., Pai, Yun Jin, Saraiva, Jorge M., Ramos, Fabiana, Farren, Bernadette, Saunders, Dawn, Vernay, Bertrand, Gissen, Paul, Straatmaan-Iwanowska, Anna, Baas, Frank, Wood, Nicholas W., Hersheson, Joshua, Houlden, Henry, Hurst, Jane, Scott, Richard, Bitner-Glinzicz, Maria, Moore, Gudrun E., Sousa, Sergio B. and Stanier, Philip 2014. Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome. American Journal of Human Genetics 95 (5) , pp. 611-621. 10.1016/j.ajhg.2014.10.007

Fromer, Menachem, Pocklington, Andrew ORCID: https://orcid.org/0000-0002-2137-0452, Kavanagh, David, Williams, Hywel J. ORCID: https://orcid.org/0000-0001-7758-0312, Dwyer, Sarah, Gormley, Padhraig, Georgieva, Lyudmila, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Palta, Priit, Ruderfer, Douglas, Carrera, Noa ORCID: https://orcid.org/0000-0003-0739-0382, Humphreys, Isla, Johnson, Jessica S., Roussos, Panos, Barker, Douglas D., Banks, Eric, Milanova, Vihra, Grant, Seth G., Hannon, Eilis ORCID: https://orcid.org/0000-0001-6840-072X, Rose, Samuel A., Chambert, Kimberly, Mahajan, Milind, Scolnick, Edward M., Moran, Jennifer L., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Palotie, Aarno, McCarroll, Steven A., Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Sklar, Pamela, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Purcell, Shaun M. and O'Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379 2014. De novo mutations in schizophrenia implicate synaptic networks. Nature 506 , pp. 179-184. 10.1038/nature12929

Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Monks, Stephen, Murphy, Kieran C., Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2013. Schizophrenia two-hit hypothesis in velo-cardio facial syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 (2) , pp. 177-182. 10.1002/ajmg.b.32129

Fayeye, O., Pettorini, B.L., Smith, M., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Rodrigues, D. and Kay, A. 2013. Meningococcal Encephalitis associated with cerebellar tonsillar herniation and acute cervicomedullary injury. British Journal of Neurosurgery 27 (4) , pp. 513-515. 10.3109/02688697.2013.764967

Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Georgieva, Lyudmila, Dwyer, Sarah Lynne, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2012. Absence of de novo point mutations in exons of GRIN2B in a large schizophrenia trio sample [Letter]. Schizophrenia Research 141 (2-3) , pp. 274-276. 10.1016/j.schres.2012.08.024

Kuswanto, Carissa Nadia, Woon, Puay-San, Zheng, Xue Bin, Qiu, Anqi, Sitoh, Yih-Yian, Chan, Yiong Huak, Liu, Jianjun, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Ong, Wei Yi and Sim, Kang 2012. Genome-wide supported psychosis risk variant in ZNF804A gene and impact on cortico-limbic WM integrity in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 159B (3) , pp. 255-262. 10.1002/ajmg.b.32032

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Sim, Kang, Chan, Wai-Yen, Woon, Puay-San, Low, Hui-Qi, Lim, Linda, Yang, Guo-Liang, Lee, Jimmy, Chong, Siow Ann, Sitoh, Yih-Yian, Chan, Yiong Huak, Liu, Jianjun, Tan, Ene Choo, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312 and Nowinski, Wieslaw Lucjan 2012. ARVCF genetic influences on neurocognitive and neuroanatomical intermediate phenotypes in Chinese patients with schizophrenia. Journal of Clinical Psychiatry 73 (3) , pp. 320-326. 10.4088/JCP.10m06491

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Bridges, Michael, Heron, Elizabeth A., O'Dushlaine, Colm, Segurado, Ricardo, Morris, Derek, Corvin, Aiden, Gill, Michael, Pinto, Carlos, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Georgieva, Lyudmila, Nikolov, Ivan, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Toncheva, Draga, Milanova, Vihra and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2011. Genetic classification of populations using supervised learning. PLoS ONE 6 (5) , e14802. 10.1371/journal.pone.0014802

Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Russo, Giancarlo, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Dwyer, Sarah Lynne, Smith, Rhodri L., Green, Elaine Karen, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2011. Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries. Human Molecular Genetics 20 (2) , pp. 387-391. 10.1093/hmg/ddq471

Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Smith, Rhodri L., Dwyer, Sarah Lynne, Russo, Giancarlo, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2011. Association between TCF4 and schizophrenia does not exert its effect by common nonsynonymous variation or by influencing cis-acting regulation of mRNA expression in adult human brain. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 (7) , pp. 781-784. 10.1002/ajmg.b.31219

Carroll, Liam Stuart, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2011. Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 (7) , pp. 844-849. 10.1002/ajmg.b.31231

Smith, Rhodri L., Knight, Deborah, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Dwyer, Sarah Lynne, Richards, Alexander, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2011. Analysis of neurogranin (NRGN) in schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156B (5) , pp. 532-535. 10.1002/ajmg.b.31191

Dwyer, Sarah Lynne, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Jones, L, Walters, James Tynan Rhys ORCID: https://orcid.org/0000-0002-6980-4053, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2011. Investigation of rare non-synonymous variants at ABCA13 in schizophrenia and bipolar disorder [letter]. Molecular Psychiatry 16 (8) , pp. 790-791. 10.1038/mp.2011.2

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Carroll, Liam Stuart, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Russell, Elen, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Peirce, Timothy Rowan, Georgieva, Lyudmila, Dwyer, Sarah Lynne, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Greene, E., Farmer, A., McGuffin, P., Morris, D. W., Corvin, A., Gill, M., Rujescu, D., Sham, P., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2010. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Molecular Psychiatry 15 (11) , pp. 1101-1111. 10.1038/mp.2009.96

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Ikeda, Masashi, Tomita, Yasuyuki, Mouri, Akihiro, Koga, Minori, Okochi, Tomo, Yoshimura, Reiji, Yamanouchi, Yoshio, Kinoshita, Yoko, Hashimoto, Ryota, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Takeda, Masatoshi, Nakamura, Jun, Nabeshima, Toshitaka, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Honda, Hiroyuki, Arinami, Tadao, Ozaki, Norio and Iwata, Nakao 2010. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. Biological psychiatry 67 (3) , pp. 263-269. 10.1016/j.biopsych.2009.08.030

Ikeda, Masashi, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Smith, Rhodri, Monks, Stephen, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Murphy, Kieran C. and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2010. Failure to confirm association between PIK4CA and psychosis in 22q11.2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B (4) , pp. 980-982. 10.1002/ajmg.b.31060

Dwyer, Sarah Lynne, Williams, Hywel ORCID: https://orcid.org/0000-0001-7758-0312, Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2010. No evidence that rare coding variants in ZNF804A confer risk of schizophrenia. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 153B (8) , pp. 1411-1416. 10.1002/ajmg.b.31117

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Ivanov, Dobril ORCID: https://orcid.org/0000-0001-6271-6301, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Nikolov, Ivan, Tzwetkova, R., Stambolova, S. M., Murphy, Kieran Christopher, Toncheva, Draga, Thapar, Anita ORCID: https://orcid.org/0000-0002-3689-737X, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2003. Chromosome 22q11 deletions, velo-cardio-facial syndrome and early-onset psychosis: Molecular genetic study. The British Journal of Psychiatry 183 (5) , pp. 409-413. 10.1192/bjp.183.5.409

Harper, P.S., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Thomas, N. and Sarfarazi, M. 2003. Prenatal diagnosis of Duchenne dystrophy [Letter]. Lancet 1 (8433) , p. 872. 10.1016/S0140-6736(85)92229-9

Bray, Nicholas John ORCID: https://orcid.org/0000-0002-4357-574X, Buckland, Paul Robert, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2003. A haplotype implicated in schizophrenia susceptibility is associated with reduced COMT expression in human brain. The American Journal of Human Genetics 73 (1) , pp. 152-161. 10.1086/376578

Levinson, Douglas. F., Holmans, Peter Alan ORCID: https://orcid.org/0000-0003-0870-9412, Laurent, Claudine, Riley, Brien, Pulver, Ann E., Gejman, Pablo V., Schwab, Sibylle G., Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862, Wildenauer, Dieter B., Sanders, Alan R., Nestadt, Gerald, Mowry, Brian J., Wormley, Brandon, Bauche, Stephanie, Soubigou, Stephane, Ribble, Robert, Nertney, Deborah A., Liang, Kung Yee, Martinolich, Laura, Maier, Wolfgang, Norton, Nadine, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Albus, Margot, Carpenter, Eric B., DeMarchi, Nicola, Ewen-White, Kelly R., Walsh, Dermot, Jay, Maurice, Deleuze, Jean-Francois, O'Neill, Anthony F., Papadimitriou, George, Weilbaecher, Ann, Lerer, Bernard, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Dikeos, Dimitris, Silverman, Jeremy M., Kendler, Kenneth S., Mallet, Jacques, Crowe, Raymond R. and Walters, Marilyn 2002. No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science 296 (5568) , pp. 739-741. 10.1126/science.1069914

Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Rees, Mark I., Bryan, E., Spurlock, Gillian, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Cardno, Alastair George, Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Jones, S., Jones, G., Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Smith, K. J., Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Coleman, Sharon Louise, Guy, Carol, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and Buckland, Paul Robert 2002. Characterisation, mutation detection, and association analysis of alternative promoters and 5' UTRs of the human dopamine D3 receptor gene in schizophrenia. Molecular psychiatry 7 (5) , pp. 493-502. 10.1038/sj.mp.4001003

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Spurlock, Gillian, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2002. Determination of the genomic structure and mutation screening in schizophrenic individuals for five subunits of the N-methyl-D-aspartate glutamate receptor. Molecular Psychiatry 7 (5) , pp. 508-514. 10.1038/sj.mp.4001030

Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Spurlock, Gillian, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Hamshere, Marian Lindsay ORCID: https://orcid.org/0000-0002-8990-0958, Krawczak, Michael, Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950, Nikolov, Ivan, Georgieva, Lyudmila, Jones, S., Cardno, Alastair George, O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 2002. Mutation screening and LD mapping in the VCFS deleted region of chromosome 22q11 in schizophrenia using a novel DNA pooling approach. Molecular Psychiatry 7 (10) , pp. 1092-1100. 10.1038/sj.mp.4001188

Williams, H.J. ORCID: https://orcid.org/0000-0001-7758-0312, Khazanehdari, K., Sutherland, H., Murphy, K.C., Jones, S., McCarthy, G.S., Jones, G., Zammit, S. ORCID: https://orcid.org/0000-0002-2647-9211, Cardno, A., Owen, R., Scambler, P., O'Donovan, M.C. ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, M.J. 2001. Association analysis of TBX1 and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 105 (7) , p. 561.

Bowen, Timothy ORCID: https://orcid.org/0000-0001-6050-0435, Williams, Nigel Melville ORCID: https://orcid.org/0000-0003-1177-6931, Norton, Nadine ORCID: https://orcid.org/0000-0002-3848-4288, Spurlock, G., Wittekindt, O. H., Morris-Rosendahl, D. J., Williams, Hywel John ORCID: https://orcid.org/0000-0001-7758-0312, Brzustowicz, L., Hoogendoorn, Bastiaan ORCID: https://orcid.org/0000-0001-9753-169X, Zammit, Stanley ORCID: https://orcid.org/0000-0002-2647-9211, Jones, G, Sanders, Rebecca, Jones, L. A., McCarthy, G., Jones, S., Bassett, A., Cardno, A. G., Owen, Michael John ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, Michael Conlon ORCID: https://orcid.org/0000-0001-7073-2379 2001. Mutation screening of the KCNN3 gene reveals a rare frameshift mutation [Letter]. Molecular Psychiatry 6 (3) , pp. 259-260. 10.1038/sj.mp.4000128

Williams, N.M. ORCID: https://orcid.org/0000-0001-7758-0312, Spurlock, G., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Norton, N., Davis, K.L., Buxbaum, J.D., Haroutunian, V., Saunders, R., Cardno, A.G., McCarthy, G., O'Donovan, M.C. ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, M.J. ORCID: https://orcid.org/0000-0003-4798-0862 2001. Screening of candidate genes related to myelination for mutations associated with schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 105 (7) , p. 589.

Williams, H.J. ORCID: https://orcid.org/0000-0001-7758-0312, Murphy, K.C., Spurlock, G., O'Donovan, M.C. ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, M.J. ORCID: https://orcid.org/0000-0003-4798-0862 2000. No association of the -277A variant allele of the UFD1L promoter polymorphism and schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96 (4) , pp. 533-534.

Williams, N.M. ORCID: https://orcid.org/0000-0001-7758-0312, Spurlock, G., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Norton, N., Walters, A., Saunders, R., Cardno, A.G., McCarthy, G., O'Donovan, M.C. ORCID: https://orcid.org/0000-0001-7073-2379 and Owen, M.J. ORCID: https://orcid.org/0000-0003-4798-0862 2000. Linkage disequilibrium mapping and candidate gene screening of the VCFS deleted region for mutations associated with schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96 (4) , p. 475.

Williams, N.M. ORCID: https://orcid.org/0000-0001-7758-0312, Bowen, T. ORCID: https://orcid.org/0000-0001-6050-0435, Spurlock, G., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Norton, N., Austin, J., Walters, A., Owen, M.J. ORCID: https://orcid.org/0000-0003-4798-0862 and O'Donovan, M.C. ORCID: https://orcid.org/0000-0001-7073-2379 2000. Identification and characterisation of SNPs in candidate genes for schizophrenia. American Journal of Medical Genetics - Neuropsychiatric Genetics 96 (4) , p. 462.

Spurlock, G., Williams, N.M. ORCID: https://orcid.org/0000-0001-7758-0312, Williams, H.J. ORCID: https://orcid.org/0000-0001-7758-0312 and Owen, M.J. ORCID: https://orcid.org/0000-0003-4798-0862 1998. Polymorphism screening of the human type 1 Sigma (σ) receptor (a candidate gene for schizophrenia) using a modified dideoxy fingerprinting technique. American Journal of Medical Genetics - Neuropsychiatric Genetics 81 (6) , pp. 525-526.

Thomas, N.S.T., Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Elsas, L.J., Hopkins, L.C., Sarfarazi, M. and Harper, P.S. 1986. Localisation of the gene for Emery-Dreifuss muscular dystrophy to the distal long arm of the X chromosome. Journal of Medical Genetics 23 (6) , pp. 596-598. 10.1136/jmg.23.6.596

Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312, Sarfarazi, M., Brown, C., Thomas, N. and Harper, P.S. 1986. The use of flanking markers in prediction for Duchenne muscular dystrophy. Archives of Disease in Childhood 61 (3) , pp. 218-222. 10.1136/adc.61.3.218

Sarfarazi, M. and Williams, H. ORCID: https://orcid.org/0000-0001-7758-0312 1986. A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. Journal of Medical Genetics 23 (1) , pp. 40-45. 10.1136/jmg.23.1.40