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Clinical genetics, 2018-03, Vol.93 (3), p.687-692
2018
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Clinical genetics, 2011-06, Vol.79 (6), p.501-506
2011
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Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss
2022
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Eye (London), 2016-09, Vol.30 (9), p.1175-1181
2016
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European journal of human genetics : EJHG, 2014-03, Vol.22 (3), p.327-332
2014
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European journal of paediatric neurology, 2017-06, Vol.21, p.e60-e61
2017
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European journal of medical genetics, 2020-02, Vol.63 (2), p.103658-103658, Article 103658
2020
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European journal of paediatric neurology, 2013-07, Vol.17 (4), p.407-414
2013
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International endodontic journal, 2011-10, Vol.44 (10), p.976-982
2011
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Clinical genetics, 2016-01, Vol.89 (1), p.27-33
2016
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Clinical genetics, 2014-06, Vol.85 (6), p.543-547
2014
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Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William J
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver S
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri V V
- Aitman, Timothy J
- Bennett, David L
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark J
- Chinnery, Patrick F
- Dixon, Peter H
- Gale, Daniel P
- James, Roger
- Koziell, Ania
- Laffan, Michael A
- Levine, Adam P
- Maher, Eamonn R
- Markus, Hugh S
- Morales, Joannella
- Morrell, Nicholas W
- Mumford, Andrew D
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi B A
- Saleem, Moin A
- Smith, Kenneth G C
- Stark, Hannah
- Tan, Rhea Y Y
- Themistocleous, Andreas C
- Thrasher, Adrian J
- Watkins, Hugh
- Webster, Andrew R
- Wilkins, Martin R
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David R
- Kingston, Nathalie
- Walker, Neil
- Bradley, John R
- Ashford, Sofie
- Penkett, Christopher J
- Freson, Kathleen
- Stirrups, Kathleen E
- Raymond, F Lucy
- Ouwehand, Willem H
2020
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Genetics in medicine, 2020-06, Vol.22 (6), p.1005-1014
2020
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Orphanet journal of rare diseases, 2020-04, Vol.15 (1), p.103-103, Article 103
- Smith, Michael
- Alexander, Elizabeth
- Marcinkute, Ruta
- Dan, Dorica
- Rawson, Myfanwy
- Banka, Siddharth
- Gavin, Jason
- Mina, Hany
- Hennessy, Con
- Riccardi, Florence
- Radio, Francesca Clementina
- Havlovicova, Marketa
- Cassina, Matteo
- Emandi, Adela Chirita
- Fradin, Melanie
- Gompertz, Lianne
- Nordgren, Ann
- Traberg, Rasa
- Rossi, Massimiliano
- Trimouille, Aurelién
- Sowmyalakshmi, Rasika
- Dallapiccola, Bruno
- Renieri, Alessandra
- Faivre, Laurence
- Kerr, Bronwyn
- Verloes, Alain
- Clayton-Smith, Jill
- Douzgou, Sofia
2020
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European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.625-636
- 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
- Kleefstra, Tjitske
2021
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Journal of neurology, 2005, Vol.252 (1), p.62-66
2005
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Journal of endocrinological investigation, 2004-09, Vol.27 (8), p.760-764
2004
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International endodontic journal, 2011-10, Vol.44 (10), p.976-982
2011
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Genetics in medicine, 2020-06, Vol.22 (6), p.1129-1129
2020
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International Endodontic Journal, 2011, Vol.44 (10), p.976-982
2011
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American journal of human genetics, 2020-02, Vol.106 (2), p.234-245
- Beck, David B.
- Petracovici, Ana
- He, Chongsheng
- Moore, Hannah W.
- Louie, Raymond J.
- Ansar, Muhammad
- Douzgou, Sofia
- Sithambaram, Sivagamy
- Cottrell, Trudie
- Santos-Cortez, Regie Lyn P.
- Prijoles, Eloise J.
- Bend, Renee
- Keren, Boris
- Mignot, Cyril
- Nougues, Marie-Christine
- Õunap, Katrin
- Reimand, Tiia
- Pajusalu, Sander
- Zahid, Muhammad
- Saqib, Muhammad Arif Nadeem
- Buratti, Julien
- Seaby, Eleanor G.
- McWalter, Kirsty
- Telegrafi, Aida
- Baldridge, Dustin
- Shinawi, Marwan
- Leal, Suzanne M.
- Schaefer, G. Bradley
- Stevenson, Roger E.
- Banka, Siddharth
- Bonasio, Roberto
- Fahrner, Jill A.
2020
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Genome research, 2019-02, Vol.29 (2), p.159
- Lord, Jenny
- Gallone, Giuseppe
- Short, Patrick J
- McRae, Jeremy F
- Ironfield, Holly
- Wynn, Elizabeth H
- Gerety, Sebastian S
- He, Liu
- Kerr, Bronwyn
- Johnson, Diana S
- McCann, Emma
- Kinning, Esther
- Flinter, Frances
- Temple, I Karen
- Clayton-Smith, Jill
- McEntagart, Meriel
- Lynch, Sally Ann
- Joss, Shelagh
- Douzgou, Sofia
- Dabir, Tabib
- Clowes, Virginia
- McConnell, Vivienne P M
- Lam, Wayne
- Wright, Caroline F
- FitzPatrick, David R
- Firth, Helen V
- Barrett, Jeffrey C
- Hurles, Matthew E
2019
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European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.576-586
2020
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Genetics in medicine, 2020-04, Vol.22 (4), p.745-751
- Lenassi, Eva
- Clayton-Smith, Jill
- Douzgou, Sofia
- Ramsden, Simon C.
- Ingram, Stuart
- Hall, Georgina
- Hardcastle, Claire L.
- Fletcher, Tracy A.
- Taylor, Rachel L.
- Ellingford, Jamie M.
- Newman, William D.
- Fenerty, Cecilia
- Sharma, Vinod
- Lloyd, I. Chris
- Biswas, Susmito
- Ashworth, Jane L.
- Black, Graeme C.
- Sergouniotis, Panagiotis I.
2020
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Clinical genetics, 2019-07, Vol.96 (1), p.72-84
2019
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