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- 2019 Genetics in Medicine
- Kathleen A. Williamson
- H. Nikki Hall
- Liusaidh J. Owen
- Benjamin J. Livesey
- Isabel M. Hanson
- Gill Adams
- Simon Bodek
- Patrick Calvas
- Bruce Castle
- Michael P. Clarke
- Alexander T Deng
- Patrick Edery
- Richard Fisher
- Gabriele Gillessen-Kaesbach
- Elise Héon
- Jane A. Hurst
- Dragana Josifova
- Birgit Lorenz
- Shane McKee
- Françoise Meire
- Anthony T. Moore
- Michael Parker
- Charlotte M. Reiff
- Jay E. Self
- Edward S. Tobias
- Joke B. G. M. Verheij
- Marjolaine Willems
- Denise Williams
- Veronica van Heyningen
- Joseph A. Marsh
- David Fitzpatrick
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- Elfride De Baere
- Diane Beysen
- Christine Oley
- Birgit Lorenz
- Julie Cocquet
- Paul de Sutter
- Koenraad Devriendt
- Michael J. Dixon
- Marc Fellous
- J E Fryns
- Arturo Garza
- Christoffer Jonsrud
- Pasi A. Koivisto
- Amanda Krause
- Bart P. Leroy
- Françoise Meire
- Astrid S. Plomp
- Lionel Van Maldergem
- Anne De Paepe
- Reiner A. Veitia
- Ludwine Messiaen
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- Ajoy Vincent
- Isabelle Audo
- Erika S. Tavares
- Jason T. Maynes
- Anupreet Tumber
- Thomas C. Wright
- Shuning Li
- Christelle Michiels
- Eyal Banin
- Béatrice Bocquet
- Elfride De Baere
- Ingele Casteels
- Sabine Defoort-Dhellemmes
- Isabelle Drumare
- Christoph Friedburg
- Irene Gottlob
- Samuel G. Jacobson
- Ulrich Kellner
- Robert K. Koenekoop
- Susanne Kohl
- Bart P. Leroy
- Birgit Lorenz
- Rebecca J. McLean
- Françoise Meire
- Isabelle Meunier
- Francis L. Munier
- Thomy de Ravel
- Charlotte M. Reiff
- Saddek Mohand-Said
- Dror Sharon
- Daniel F. Schorderet
- Sharon B. Schwartz
- Xavier Zanlonghi
- Christel Condroyer
- Heather MacDonald
- Robert Verdet
- José-Alain Sahel
- Christian P. Hamel
- Christina Zeitz
- Elise Héon
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Citations (38) - 2016 PLOS ONE
- Morad Ansari
- Jacqueline K. Rainger
- Isabel M. Hanson
- Kathleen A. Williamson
- Freddie H. Sharkey
- Louise Harewood
- Angela Sandilands
- Jill Clayton-Smith
- Hélène Dollfus
- Pierre Bitoun
- Françoise Meire
- Judy Fantes
- Brunella Franco
- Birgit Lorenz
- David Taylor
- Fiona Stewart
- Colin E. Willoughby
- Meriel McEntagart
- Peng T. Khaw
- Carol L. Clericuzio
- Lionel Van Maldergem
- Denise Williams
- Ruth Newbury-Ecob
- Elias I. Traboulsi
- Eduardo Silva
- Mukhlis M. Madlom
- David 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 Prescott
- Deborah J. Shears
- Ken K. Nischal
- Martine Doco-Fenzy
- Fabienne Prieur
- I. Karen Temple
- Katherine L. Lachlan
- Giuseppe Damante
- Danny Morrison
- Veronica van Heyningen
- David Fitzpatrick
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