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- Justyna A. Karolak
- Marie Vincent
- Gail H. Deutsch
- Tomasz Gambin
- Benjamin Cogné
- Olivier Pichon
- Francesco Vetrini
- Heather C. Mefford
- Jennifer N. Dines
- Katie Golden-Grant
- Katrina M. Dipple
- Amanda S. Freed
- Kathleen A. Leppig
- Megan K. Dishop
- David Mowat
- Bruce Bennetts
- Andrew J. Gifford
- Ma Weber
- Anna F. Lee
- Cornelius F. Boerkoel
- Tina M. Bartell
- Catherine Ward Melver
- Thomas Besnard
- Florence Petit
- Iben Bache
- Zeynep Tümer
- Marie Denis-Musquer
- Madeleine Joubert
- Jelena Martinovic
- Claire Bénéteau
- Arnaud Molin
- Dominique Carles
- Gwenaelle Andre
- Eric Bieth
- Nicolas Chassaing
- Louise Devisme
- Lara Chalabreysse
- Laurent Pasquier
- Véronique Secq
- Massimiliano Don
- Maria Orsaria
- Chantal Missirian
- Jérémie Mortreux
- Damien Sanlaville
- Linda Pons
- Sébastien Küry
- Stéphane Bézieau
- Jean-Michel Liet
- Nicolas Joram
- Tiphaine Bihouée
- Daryl A. Scott
- Chester W. Brown
- Fernando Scaglia
- Anne Chun-Hui Tsai
- Dorothy K. Grange
- John A. Phillips rd
- Jean P. Pfotenhauer
- Shalini N. Jhangiani
- Claudia Gonzaga-Jauregui
- Wendy K. Chung
- Galen M. Schauer
- Mark Lipson
- Catherine L. Mercer
- Arie van Haeringen
- Qian Liu
- Edwina J. Popek
- Zeynep Coban Akdemir
- James R. Lupski
- Przemyslaw Szafranski
- Bertrand Isidor
- Cédric Le Caignec
- Pawel Stankiewicz
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Citations (50) - 2017 Nature Genetics
- Claire Redin
- Harrison Brand
- Ryan L. Collins
- Tammy Kammin
- Elyse Mitchell
- Jennelle C. Hodge
- Carrie Hanscom
- Vamsee Pillalamarri
- Catarina M. Seabra
- Mary Alice Abbott
- Omar A. Abdul-Rahman
- Erika Aberg
- Rhett Adley
- Sofia L. Alcaraz-Estrada
- Fowzan S. Alkuraya
- Yu An
- M. A. Anderson
- Caroline Antolik
- Kwame Anyane-Yeboa
- Joan F. Atkin
- Tina M. Bartell
- Jonathan A. Bernstein
- Elizabeth Beyer
- Ian Blumenthal
- Ernie M.H.F. Bongers
- Eva H. Brilstra
- Chester W. Brown
- Hennie T. Brüggenwirth
- Bert Callewaert
- Colby Chiang
- Ken Corning
- Helen Cox
- Edwin Cuppen
- Benjamin B. Currall
- Tom Cushing
- Dezsö David
- Matthew A. Deardorff
- Annelies Dheedene
- Marc D’Hooghe
- Bert B.A. de Vries
- Dawn L. Earl
- Heather L. Ferguson
- Heather Fisher
- David Fitzpatrick
- Pamela Gerrol
- Daniela Giachino
- Joseph T. Glessner
- Troy J. Gliem
- Margo Grady
- Brett H. Graham
- Cristin Griffis
- Karen W. Gripp
- Andrea L. Gropman
- Andrea Hanson-Kahn
- David Harris
- Mark A. Hayden
- Rosamund Hill
- Ron Hochstenbach
- Jodi D. Hoffman
- Robert J. Hopkin
- Monika Weisz Hubshman
- A. Micheil Innes
- Mira Irons
- Melita Irving
- Jessie C. Jacobsen
- Sandra Janssens
- Tamison Jewett
- John P. Johnson
- Marjolijn C.J. Jongmans
- Stephen G. Kahler
- David A. Koolen
- Jerome Korzelius
- Peter M. Kroisel
- Yves Lacassie
- William Lawless
- Emmanuelle Lemyre
- Kathleen A. Leppig
- Alex V. Levin
- Haibo Li
- Hong Li
- Eric C. Liao
- Cynthia Lim
- Edward J. Lose
- Diane Lucente
- Michael J. Macera
- Poornima Manavalan
- Giorgia Mandrile
- Carlo Marcelis
- Lauren Margolin
- Tamara Mason
- Diane Masser-Frye
- Michael W. McClellan
- Cinthya J Zepeda Mendoza
- Björn Menten
- Sjors Middelkamp
- Liya R Mikami
- Emily Moe
- Shehla Mohammed
- Tarja Mononen
- Megan Mortenson
- Graciela Moya
- A. W. M. Nieuwint
- Zehra Ordulu
- Sandhya Parkash
- Susan P. Pauker
- Shahrin Pereira
- Danielle Perrin
- Katy Phelan
- Raul Eduardo Pina Aguilar
- Pino J Poddighe
- Giulia Pregno
- Salmo Raskin
- Linda M. Reis
- William J. Rhead
- Debra Rita
- Ivo Renkens
- Filip Roelens
- Jayla Ruliera
- Patrick Rump
- Samantha L.P. Schilit
- Ranad Shaheen
- Rebecca Sparkes
- Erica Spiegel
- Blair Stevens
- Matthew R. Stone
- Julia Tagoe
- Joseph V. Thakuria
- Bregje W.M. van Bon
- Jiddeke M. van de Kamp
- Ineke van der Burgt
- Ton van Essen
- Conny M.A. van Ravenswaaij–Arts
- Markus J. van Roosmalen
- Sarah Vergult
- Catharina M L Volker-Touw
- Dorothy Warburton
- Matthew J. Waterman
- Susan Wiley
- Anna Wilson
- María de la Concepción A Yerena-de-Vega
- Roberto T. Zori
- Brynn Levy
- Han G. Brunner
- Nicole de Leeuw
- Wigard P. Kloosterman
- Erik C. Thorland
- Cynthia C. Morton
- James F. Gusella
- Michael E. Talkowski
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