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European Journal of Medical Geneticsno. 8 (2023): 104788-104788
Sarah E. Sheppard,Laura Bryant,Rochelle N. Wickramasekara,Courtney Vaccaro,Brynn Robertson,Jodi Hallgren,Jason Hulen,Cynthia J. Watson,Victor Faundes,Yannis Duffourd,Pearl Lee,M. Celeste Simon,Xavier de la Cruz,Natalia Padilla,Marco Flores-Mendez,Naiara Akizu,Jacqueline Smiler,Renata Pellegrino Da Silva,Dong Li,Michael March,Abdias Diaz-Rosado,Isabella Peixoto de Barcelos,Zhao Xiang Choa,Chin Yan Lim,Christele Dubourg,Hubert Journel,Florence Demurger,Maureen Mulhern,Cigdem Akman,Natalle Lippa,Marisa Andrews,Dustin Baldridge,John Constantino,Anita Rauch,Arie van Haeingen, Irina Snoeck-Streef,Penny Chow,Anne Hing,John M. Graham,Margaret Au,Laurence Falvre, Wel Shen,Rong Mao,Janice Palumbos,David Viskochil,William Gahl,Cynthia Tifft,Ellen Macnamara,Natalie Hauser,Rebecca Miller, Jessica Maffeo,Alexandra Afenjar,Diane Doummar,Boris Keren,Pamela Arn, Sarah Mackllin-Mantla,Ilse Meerschaut,Bert Callewaert, Andre Rels,Christiane Zweler,Carole Brewer,Anand Saggar,Marie F. Smeland,Ajith Kumar,Frances Elmslie,Charu Deshpande,Mathilde Nizon,Benjamin Cogne,Yvette van Ierland,Martina Wilke,Marjon van Slegtenhorst,Suzanne Koudijs,Jin Yun Chen,David Dredge, Danielle Pler,Saskia Wortmann,Erik-Jann Kamsteeg,Johannes Koch,Devon Haynes,Lynda Pollack,Hannah Titheradge,Kara Ranguin,Anne-Sophie Denomme-Pichon,Sacha Weber,Ruben Perez de la Fuente,Jaime Sanchez del Pozo,Jose Miguel Lezana Rosales,Pascal Joset,Katharina Steindl, Ani Rauch,Davide Mei,Francesco Mari,Renzo Guerrini,James Lespinasse,Frederic Tran Mau-Then,Christophe Philippe,Benjamin Dauriat,Laure Raymond,Sebastien Moutton,Anna M. Cueto-Gonzalez,Tiong Yang Tan,Cyril Mignot,Sarah Grotto,Florence Renaldo,Theodore G. Drivas,Laura Hennessy,Anna Raper,Ilaria Parenti,Frank J. Kaiser,Alma Kuechler,Oyvind L. Busk,Lily Islam,Jacob A. Siedlik,Lindsay B. Henderson,Jane Juusola,Richard Person,Rhonda E. Schnur,Antonio Vitobello,Siddharth Banka,Elizabeth J. Bhoj,Holly A. F. Stessman
Science advancesno. 10 (2023)
Mary R. Sy,Jaynee Chauhan,Katrina Prescott,Aliza Imam,Alison Kraus,Ana Beleza,Lee Salkeld,Saraswati Hosdurga,Michael Parker,Pradeep Vasudevan,Lily Islam,Himanshu Goel,Nicole Bain,Soo-Mi Park,Shehla Mohammed,Klaus Dieterich,Charles Coutton,Veronique Satre,Gaelle Vieville,Alan Donaldson,Claire Beneteau,Jamal Ghoumid,Kris Van den Bogaert,Anneleen Boogaerts,Elise Boudry,Clemence Vanlerberghe,Florence Petit,Laura Bernardini,Barbara Torres,Teresa Mattina,Diana Carli,Giorgia Mandrile,Michele Pinelli,Nicola Brunetti-Pierri,Katherine Neas,Rachel Beddow,Pernille M. Torring,Flavio Faletra,Beatrice Spedicati,Paolo Gasparini,Alessandro Mussa,Giovanni Battista Ferrero,Anne Lampe,Wayne Lam,Weimin Bi,Carlos A. Bacino,Akela Kuwahara,Jeffrey O. Bush,Xiaonan Zhao,Pamela N. Luna,Chad A. Shaw,Jill A. Rosenfeld,Daryl A. Scott
Hildegard Nikki Hall,Hemant Bengani,Robert B. Hufnagel,Giuseppe Damante,Morad Ansari,Joseph A. Marsh,Graeme R. Grimes,Alex von Kriegsheim,David Moore,Lisa McKie,Jamalia Rahmat,Catia Mio,Moira Blyth,Wee Teik Keng,Lily Islam, Meriel McEntargart,Marcel M. Mannens,Veronica Van Heyningen,Joe Rainger, Brian P. Brooks,David R. FitzPatrick
Aara Patel,Jane D. Hayward,Vijay Tailor,Rodney Nyanhete,Helena Ahlfors,Camila Gabriel,Tommaso B. Jannini,Yassir Abbou-Rayyah,Robert Henderson,Ken K. Nischal,Lily Islam,Maria Bitner-Glindzicz,Jane Hurst,Leonardo E. Valdivia,Mario Zanolli,Mariya Moosajee,John Brookes,Maria Papadopoulos,Peng T. Khaw,Thomas Cullup,Lucy Jenkins,Annegret Dahlmann-Noor,Jane C. Sowden
Ophthalmology (Rochester, Minn) (2019): 888-907
Y. Crow, D. Mariella, Alessandro,T. Dabir,R. Davidson,S. Davies,Dylan H. de Vries, J. Dean,C. Deshpande,G. Devlin,A. Dixit,A. Dobbie,A. Donaldson,D. Donnai,D. Donnelly, C. Donnelly,A. Douglas, A. Duncan,J. Eason,S. Ellard,I. Ellis,F. Elmslie, K. Evans,S. Everest, T. Fendick,R. Fisher,F. Flinter,N. Foulds,A. Fry,A. Fryer,C. Gardiner,L. Gaunt,N. Ghali,R. Gibbons,H. Gill,J. Goodship, D. Goudie,Emma V. Gray,A. Green,P. Greene,L. Greenhalgh,S. Gribble,R. Harrison,L. Harrison,V. Harrison,R. Hawkins,Liu He,S. Hellens,A. Henderson,S. Hewitt,Lucy Hildyard,E. Hobson,S. Holden,M. Holder,S. Holder,G. Hollingsworth,T. Homfray,M. Humphreys,J. Hurst,Ben Hutton,S. Ingram,M. Irving,L. Islam,Andrew Jackson,J. Jarvis,L. Jenkins,Diana S. Johnson,E. Jones,D. Josifova,S. Joss, B. Kaemba, S. Kazembe,R. Kelsell,B. Kerr,H. Kingston,U. Kini,E. Kinning,G. Kirby,C. Kirk,E. Kivuva,A. Kraus,Dhavendra Kumar,V. K. A. Kumar,K. Lachlan,W. Lam,A. Lampe, C. Langman,M. Lees,D. Lim, C. Longman,G. Lowther,S. Lynch,A. Magee,E. Maher,Alison M. Male,S. Mansour,K. Marks,K. Martin, U. Maye,E. McCann,V. Mcconnell,M. McEntagart,R. McGowan,K. McKay,S. McKee,D. McMullan,S. Mcnerlan,C. Mcwilliam,S. Mehta,K. Metcalfe,A. Middleton,Z. Miedzybrodzka,E. Miles,S. Mohammed,T. Montgomery,D. Moore,S. Morgan,J. Morton,H. Mugalaasi,V. Murday,Helen R Murphy,S. Naik,A. Nemeth,L. Nevitt,A. Norman, O. Rosie, Shea,C. Ogilvie,K. Ong,Soo-Mi Park,M. Parker,C. Patel,J. Paterson,S. Payne,D. Perrett,J. Phipps,D. Pilz,M. Pollard,C. Pottinger,J. Poulton,N. Pratt,K. Prescott, A. Pridham,A. Procter, H. Purnell,O. Quarrell,N. Ragge,R. Rahbari, J. Randall,L. Raymond,D. Rice,L. Robert,E. Roberts,Jonathan Roberts,P. Roberts,G. Roberts,A. Ross,E. Rosser,A. Saggar,S. Samant,J. Sampson,R. Sandford,A. Sarkar,S. Schweiger,R. Scott,I. Scurr,A. Selby,A. Seller, C. Sequeira,N. Shannon,S. Sharif,C. Shaw-Smith,E. Shearing,D. Shears,E. Sheridan,I. Simonic,R. Singzon,Z. Skitt,Audrey Smith,Kath Smith,S. Smithson,L. Sneddon,M. Splitt,M. Squires,F. Stewart,H. Stewart,V. Straub, M. Suri,V. Sutton,G. Swaminathan,E. Sweeney,K. Tatton-Brown, Cat Taylor,Rohan Taylor,M. Tein,I. Temple,J. Thomson,M. Tischkowitz,S. Tomkins, A. Torokwa,B. Treacy,C. Turner,P. Turnpenny,C. Tysoe, A. Vandersteen,V. Varghese,P. Vasudevan,Parthiban Vijayarangakannan,J. Vogt,E. Wakeling,Sarah Wallwark, J. Waters,A. Weber,D. Wellesley,M. Whiteford,S. Widaa,S. Wilcox, E. Wilkinson,Denise Williams,N. Williams,L. Wilson,G. Woods,C. Wragg,M. Wright,L. Yates,M. Parker,C. Wright,D. FitzPatrick
semanticscholar（2019）
引用57浏览0引用
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Aara Patel,Jane D. Hayward,Vijay Tailor,Rodney Nyanhete,Helena Ahlfors,Camila Gabriel,Tommaso B. Jannini,Yassir Abbou-Rayyah,Robert Henderson,Ken K. Nischal,Lily Islam,Maria Bitner-Glindzicz,Jane Hurst,Leonardo E. Valdivia,Mario Zanolli,Mariya Moosajee,John Brookes,Maria Papadopoulos,Peng T. Khaw,Thomas Cullup,Lucy Jenkins,Annegret Dahlmann-Noor,Jane C. Sowden
Ophthalmologyno. 6 (2019): 888-907
Lynette G. Sadleir, Emily Mountier,Deepak Gill,Suzanne L. Davis,Charuta Joshi,Catherine DeVile,Manju A. Kurian,Simone Mandelstam,Elaine Wirrell,Katherine C. Nickels, Hema R. Murali,Gemma L. Carvill,Candace T. Myers,Heather C. Mefford,Ingrid E. Scheffer,A. Paul Bevan,Abhijit Dixit, Abigail Pridham,Adrian R. Tivey,Ajoy Sarkar,Alan Donaldson, Alan Fryer,Alejandro Sifrim, Alex Henderson,Alex Magee,Alexis E. Duncan,Alison Kraus,Alison Male, Alison Ross, Amanda Collins,Anand Saggar,Andrea Coates,Andrea H. Németh,Andrew E. Fry,Andrew Green, Andrew Jackson, Andrew Norman,Angela Barnicoat,Angela Brady,Angela Douglas,Angus Clarke,Angus Dobbie,Ann Selby, Anna Middleton, Anne Katrin Lampe, A Seller,Annie Procter, Karenza Evans,Anthony Vandersteen,Astrid Weber, Audrey Smith, Audrey Torokwa, Beckie Kaemba,Becky Treacy,Beiyuan Fu,Ben Hutton,Birgitta Bernhard, Bronwyn Kerr,Bruce Castle, Carina Donnelly,Carol Gardiner,Carol Scott,Carole Brewer, Caroline F. Wright,Caroline Langman,Caroline Mackie Ogilvie,Caroline Pottinger,Carolyn Tysoe, Cat Taylor,Catherine McWilliam,Charles Shaw‐Smith,Charu Deshpande,Cheryl Longman, Cheryl Sequeira,Chirag J. Patel, Chris Bennett, Chris Nellåker,Christopher Wragg,Claire Kirk, Claire Turner,Daniel King,Daniel M. Barrett,Daniel Perrett, Daniela T. Pilz,Danielle Walker,David Baty,David Bohanna,David Bourn,David Goudie,David J. Bunyan,David Jones, D. J. Moore,David R. FitzPatrick,Debbie Rice,Debbie Shears,Deirdre Cilliers,Deirdre Donnelly, Denise Williams,Derek Lim, Dhavendra Kumar,Emma McCann, Dian Donnai,Diana Baralle, Diana Johnson,Diana Rajan, Diana Wellesley,Dominic McMullan, Douglas J. Simpkin,Dragana Josifova,Dylan de Vries,Eamonn Sheridan, E.R. Maher, Edward Blair,Eileen Roberts,Elena Chatzimichali,Elena Prigmore,Elisabeth Rosser,Elizabeth A. Jones,Elizabeth Sweeney, Emily Wilkinson, Emma Gray, Pipelines Staff,Emma Hobson,Emma Kivuva,Emma Miles,Emma Shearing,Emma Wakeling,Esther Kinning,Eugene Bragin,Eve L. Coomber,Fengtang Yang,Fiona Connell,Fiona Stewart,Frances Elmslie, Frances Flinter, Ganesh Swaminathan,Gail Kirby, Gareth Cross,Gemma Devlin,Geoff Woods,Georgina Hollingsworth,Gillian Roberts, G. R. Lowther,Harinder Gill,Hayley Archer, Helen Cox, Helen V. Firth,Helen Kingston,Helen Murphy, Helen Stewart, Hellen Purnell,Hood Mugalaasi,Ian O. Ellis,Ingrid Scurr,Ingrid Simonic,Irina Colgiu,Jacqueline Eason,Jana Awada, Jane A. Hurst,Jeffrey C. Barrett,Jenny Morton,Jenny Thomson,Jeremy F. McRae,Jill Clayton‐Smith,Joan Paterson,Joanna Jarvis,Joanna Kaplanis,Joanna Poulton, J Burn, J.L. Burton, John Dean, John Tolmie,Jonathan Berg, Jonathan Roberts, Jonathon Waters, Josh Randall,Judith Goodship,Julia Rankin,Julian R. Sampson,Julie Phipps,Julie Vogt,Kai‐Ren Ong,Karen Marks, Kate Brunstrom,Kate Chandler,Kate Tatton‐Brown,Kath Smith,Katherine I. Morley,Katherine Lachlan, I. Karen Temple,Katherine Martin,Katrina Prescott,Kay Metcalfe,Kirsten McKay,Kirsty Ambridge,Lara Cresswell,Laura Mason,Laura Yates,Leema Robert,Lily Islam,Linda Sneddon, Lisa C. Bradley, Lina He,Lorraine Gaunt, Louise Bourdon, Louise Brueton,Louise Nevitt,Louise Wilson,Lucy Harrison, Lucy Hilyard,Lucy Jenkins,Lucy Raymond,Lynn Greenhalgh,Marc Tischkowitz,Margo Whiteford,Margriet van Kogelenberg, Maria Bitner‐Glindzicz,Mariella D’Alessandro,Martin Pollard,Matthew E. Hurles,Meena Balasubramanian,Melissa Lees,Melita Irving,Meriel McEntagart,Mervyn Humphreys, M.W. Parker, Michael Wright,Michael Yau,Miranda Splitt,Miranda Squires,Mohnish Suri,Mohsan Alvi,Moira Blyth,Morag N. Collinson, Maghfoor Ahmed,Muriel Holder,Nadia Akawi,Natalie Canham,Neeti Ghali,Netravathi Krishnappa,Nicola Cooper, Nicola Foulds,Nicola Ragge,Nicola Williams, Nigel P. Carter,Nora Shannon,Norman Pratt,Oliver Quarrell, Paul Batstone,Paul Roberts, Peter Ellis,Peter D. Turnpenny,Philip Greene,Phil Jones,Pradeep Vasudevan, Rachel Harrison,Raheleh Rahbari,Ray Miller, Richard Fisher,Richard J. Gibbons,Richard Sandford, Richard Scott,Robert C. Andrews,Rohan Taylor,Roldan Singzon,Rose Hawkins,Rosemarie Davidson, Rosemary E. Kelsell,Rosie O’Shea,Ruby Banerjee, Ruth Armstrong,Ruth McGowan, Ruth Newbury‐Ecob,Saba Sharif,Mark Tein,Saeed Al-Turki,Sahar Mansour,Sally Ann Lynch,Sally Davies, Sandra Kazembe,Sandrine Pereira,Sara Widaa,Sarah Edkins,Sarah Everest,Sarah Hewitt,Sarah Smithson,Sarah Wallwark,Sarah Wilcox,Sarju Mehta,Sebastian S. Gerety,Shalaka Samant,Shane McKee,Shehla Mohammed,Shelagh Joss, Sian Ellard, Siân Morgan,Siddharth Banka, Simon Brent,Simon Holden,Sofia Douzgou,Soo‐Mi Park, Stephen Clayton,Stephen Hellens,Stewart J. Payne,Stuart Aitken,Stuart Ingram,Sue Price, Susan Clasper,Susan Gribble,Susan Holder,Susan McNerlan,Susan Tomkins,Susann Schweiger,Suzannah Bumpstead,Swati Naik,Tabib Dabir,Tanya Bayzetinova,Tara Montgomery,Tarjinder Singh,Tessa Homfray, Tina Fendick,Tomas Fitzgerald, Trevor Cole,Una Maye, Uruj Anjum, Usha Kini, Vipul Kumar,Victoria Harrison,Victoria Murday,Vijaya Parthiban,Vinod Varghese,Virginia Clowes,Vivienne McConnell, V. Reid Sutton,Volker Straub, Wayne Lam,Wendy D. Jones,Yanick J. Crow,Zara Skitt,Zosia Miedzybrodzka
Neurologyno. 10 (2017): 1035-1042
Morad Ansari,Jacqueline Rainger,Isabel M Hanson,Kathleen A Williamson,Freddie Sharkey,Louise Harewood,Angela Sandilands,Jill Clayton-Smith,Helene Dollfus,Pierre Bitoun,Francoise Meire,Judy Fantes,Brunella Franco,Birgit Lorenz,David S Taylor,Fiona Stewart,Colin E Willoughby,Meriel McEntagart,Peng Tee Khaw,Carol Clericuzio,Lionel Van Maldergem,Denise Williams,Ruth Newbury-Ecob,Elias I Traboulsi,Eduardo D Silva, Mukhlis M Madlom,David R Goudie,Brian W Fleck,Dagmar Wieczorek,Juergen Kohlhase,Alice D McTrusty,Carol Gardiner, Christopher Yale,Anthony T Moore,Isabelle Russell-Eggitt,Lily Islam,Melissa Lees,Philip L Beales,Stephen J Tuft, Juan B Solano,Miranda Splitt,Jens Michael Hertz,Trine E Prescott,Deborah J Shears,Ken K Nischal,Martine Doco-Fenzy,Fabienne Prieur,I Karen Temple,Katherine L Lachlan,Giuseppe Damante,Danny A Morrison,Veronica van Heyningen,David R FitzPatrick
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