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- Sónia Barbosa
- Stephanie Greville-Heygate
- Maxime Bonnet
- Annie Godwin
- Christine Fagotto-Kaufmann
- Andrey V. Kajava
- Damien Laouteouet
- Rebecca Mawby
- Htoo Aung Wai
- Alexander J. M. Dingemans
- Jayne Y. Hehir-Kwa
- Marjorlaine Willems
- Yline Capri
- Sarju G Mehta
- Helen Cox
- David Goudie
- Fleur Vansenne
- Peter D Turnpenny
- Marie Vincent
- Benjamin Cogné
- Gaetan Lesca
- Jozef Hertecant
- Diana Rodriguez
- Boris Keren
- Lydie Burglen
- Marion Gérard
- Audrey Putoux
- Vincent Cantagrel
- Karine Siquier-Pernet
- Marlène Rio
- Siddharth Banka
- Ajoy Sarkar
- Marcie A. Steeves
- Michael J. Parker
- Emma Clement
- Sébastien Moutton
- Frédéric Tran Mau-Them
- Amélie Piton
- Bert B.A. de Vries
- Matthew Guille
- Anne Debant
- Susanne Schmidt
- Diana Baralle
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Citations (19) -
- Anna Durkin
- Shadi Albaba
- Andrew E. Fry
- Jenny Morton
- Andrew G.L. Douglas
- Ana Beleza
- Denise Williams
- Catharina M L Volker-Touw
- Sally Ann Lynch
- Natalie Canham
- Virginia E. Clowes
- Volker Straub
- Katherine Lachlan
- Frances M. Gibbon
- Mayy El Gamal
- Vinod Varghese
- Michael Parker
- Ruth Newbury-Ecob
- Peter D Turnpenny
- Alice Gardham
- Neeti Ghali
- Meena Balasubramanian
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Citations (6) -
- Oscar Rubio Cabezas
- Sarah E. Flanagan
- Horia Stanescu
- Elena García Martínez
- Richard Caswell
- Hana Lango Allen
- M. Antón Gamero
- Jesús Argente
- Anna Marie Bussell
- André W. Brändli
- heshire C
- Elizabeth Crowne
- Simona Dumitriu
- Robert Drynda
- Julian P Hamilton-Shield
- Wesley Hayes
- Alexis Hofherr
- Daniela Iancu
- Naomi Issler
- Craig Jefferies
- Peter Jones
- Matthew Johnson
- Anne Kesselheim
- Enriko Klootwijk
- M Koettgen
- W. Lewis
- Martos Jm
- ozere M
- Jill T. Norman
- Patel
- Andrew Parrish
- Pérez-erdá C
- Jesús Pozo
- Sofia Rahman
- Nj Sebire
- Mehmet Tekman
- Peter D Turnpenny
- William van’t Hoff
- Viering Dhhm
- Michael N. Weedon
- Patricia D. Wilson
- Lisa M. Guay-Woodford
- Robert Kleta
- Khalid Hussain
- Sian Ellard
- Detlef Bockenhauer
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- Katrina Tatton-Brown
- Anna Zachariou
- Chey Loveday
- Anthony Renwick
- Shazia Mahamdallie
- Lise Aksglaede
- Diana Baralle
- Daniela Q.C.M. Barge-Schaapveld
- Moira Blyth
- Mieke C. Bouma
- Jeroen Breckpot
- Beau Crabb
- Tabib Dabir
- Valerie Cormier Daire
- Christine Fauth
- Richard Fisher
- Blanca Gener
- David Goudie
- Tessa Homfray
- Matthew Hunter
- Agnete Jørgensen
- Sarina G. Kant
- Cathy Kirally-Borri
- David A. Koolen
- Ajith Kumar
- Anatalia Labilloy
- Melissa Lees
- Carlo Marcelis
- Catherine L. Mercer
- Cyril Mignot
- Kathryn Miller
- Katherine Neas
- Ruth Newbury-Ecob
- Daniela T. Pilz
- Renata Posmyk
- Carlos E. Prada
- Keri Ramsey
- Linda M. Randolph
- Angelo Selicorni
- Deborah J. Shears
- Mohnish Suri
- I. Karen Temple
- Peter D Turnpenny
- Lionel Val Maldergem
- Vinod Varghese
- Hermine E. Veenstra-Knol
- Naomi Yachelevich
- Laura Yates
- Deciphering Developmental Disorders (Ddd) Study
- Nazneen Rahman
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Citations (42) - 2018 Science
- Hilary C. Martin
- Wendy D Jones
- R.E. McIntyre
- Gabriela Sánchez-Andrade
- M Sanderson
- James D. Stephenson
- Cp Jones
- J Handsaker
- Giuseppe Gallone
- M Bruntraeger
- Jeremy F. McRae
- Elena Prigmore
- Patrick J. Short
- Mari Niemi
- Joanna Kaplanis
- Elizabeth J. Radford
- Nadia Akawi
- Meena Balasubramanian
- John Dean
- Rachel Horton
- Alice Hulbert
- Diana Johnson
- K Johnson
- Dhavendra Kumar
- Sally Ann Lynch
- Sarju G. Mehta
- Jenny Morton
- Michael Parker
- Miranda Splitt
- Peter D Turnpenny
- Pradeep Vasudevan
- Michael J. Wright
- Andrew Bassett
- Sebastian S. Gerety
- Caroline F. Wright
- FitzPatrick
- Helen V. Firth
- Matthew E. Hurles
- Jeffrey C. Barrett
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Citations (89) - 2018 Genetics in MedicineShow All
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- Esther Meyer
- Keren J. Carss
- Julia Rankin
- Jme Nichols
- Detelina Grozeva
- Agnel Praveen-Joseph
- Niccolo E. Mencacci
- Apostolos Papandreou
- J Ng
- Serena Barral
- Adeline Ngoh
- Hilla Ben Pazi
- M.A.A.P. Willemsen
- David Arkadir
- Angela Barnicoat
- Hagai Bergman
- Sanjay Bhate
- Amber Boys
- Niklas Darin
- Nicola Foulds
- Nicholas J. Gutowski
- A. Hills
- Henry Houlden
- Jane Hurst
- Zvi Israel
- Margaret Kaminska
- Patricia Limousin
- Daniel E. Lumsden
- Shane McKee
- Shibalik Misra
- Shekeeb S Mohammed
- Nakou
- Joost Nicolai
- Magnus Nilsson
- Hardev Pall
- Kathryn J. Peall
- Gregory Peters
- Prab Prabhakar
- Reuter
- Patrick Rump
- Reeval Segel
- Margje Sinnema
- Martin D. Smith
- Peter D Turnpenny
- Susan M. White
- Dagmar Wieczorek
- Sarah Wiethoff
- Brian T Wilson
- Gidon Winter
- Christopher Wragg
- Simon Pope
- Sjh Heales
- Deborah Morrogh
- Alan Pittman
- Lucinda Carr
- Belén Pérez-Dueñas
- J P Lin
- André Reis
- William A. Gahl
- Camilo Toro
- Kailash P. Bhatia
- Nicholas W. Wood
- E. J. Kamsteeg
- Wui K Chong
- Paul Gissen
- Maya Topf
- Russell C. Dale
- Chubb
- Fl Raymond
- Manju A. Kurian
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Citations (2) - 2017 Nature Genetics
- Esther Meyer
- Keren J. Carss
- Julia Rankin
- John M.E. Nichols
- Detelina Grozeva
- Agnel Praveen-Joseph
- Niccolo E. Mencacci
- Apostolos Papandreou
- Joanne Ng
- Serena Barral
- Adeline Ngoh
- Hilla Ben Pazi
- Michèl A.A.P. Willemsen
- David Arkadir
- Angela Barnicoat
- Hagai Bergman
- Sanjay Bhate
- Amber Boys
- Niklas Darin
- Nicola Foulds
- Nicholas J. Gutowski
- A. Hills
- Henry Houlden
- Jane A. Hurst
- Zvi Israel
- Margaret Kaminska
- Patricia Limousin
- Daniel E. Lumsden
- Shane McKee
- Shibalik Misra
- Shekeeb S Mohammed
- Vasiliki Nakou
- Joost Nicolai
- Magnus Nilsson
- Hardev Pall
- Kathryn J. Peall
- Gregory Peters
- Prab Prabhakar
- Miriam S. Reuter
- Patrick Rump
- Reeval Segel
- Margje Sinnema
- Martin D. Smith
- Peter D Turnpenny
- Susan M. White
- Dagmar Wieczorek
- Sarah Wiethoff
- Brian T Wilson
- Gidon Winter
- Christopher Wragg
- Simon Pope
- Simon J H Heales
- Deborah Morrogh
- Deciphering Developmental Disorders Study
- Alan Pittman
- Lucinda Carr
- Belén Pérez Dueñas
- Jean-Pierre Lin
- André Reis
- William A. Gahl
- Camilo Toro
- Kailash P. Bhatia
- Nicholas W. Wood
- Erik-Jan Kamsteeg
- Wui K Chong
- Paul Gissen
- Maya Topf
- Russell C. Dale
- Jonathan R. Chubb
- F. Lucy Raymond
- Manju A. Kurian
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