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- 2021 PLOS ONE
- Hemant Bengani
- Detelina Grozeva
- Lambert Moyon
- Shipra Bhatia
- Susana R. Louros
- Jilly Hope
- Adam Jackson
- James Prendergast
- Liusaidh J. Owen
- Magali Naville
- Jacqueline K. Rainger
- Graeme R. Grimes
- Mihail Halachev
- Laura C. Murphy
- Olivera Spasic-Boskovic
- Veronica van Heyningen
- Peter C. Kind
- Catherine M. Abbott
- Emily K. Osterweil
- F. Lucy Raymond
- Hugues Roest Crollius
- David Fitzpatrick
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- Damian Smedley
- Katherine R. Smith
- Antonio Martín
- Ellen A. Thomas
- Ellen M. McDonagh
- Valentina Cipriani
- Jamie M Ellingford
- Gavin Arno
- Arianna Tucci
- Jana Vandrovcova
- Georgia Chan
- Hywel J. Williams
- Thiloka Ratnaike
- Wei Wei
- Kathleen Stirrups
- Kristina Ibáñez
- Loukas Moutsianas
- Matthias Wielscher
- Anna Need
- Michael R. Barnes
- Letizia Vestito
- James Buchanan
- Sarah Wordsworth
- Sofie Ashford
- Karola Rehmström
- Emily Li
- Gavin Fuller
- Philip Twiss
- Olivera Spasic-Boskovic
- Sally Halsall
- R. Andres Floto
- Kenneth E. S. Poole
- Annette G. Wagner
- Sarju G. Mehta
- Mark Gurnell
- Nigel Burrows
- Roger F. L. James
- Christopher Penkett
- Eleanor Dewhurst
- Stefan Gräf
- Rutendo Mapeta
- Mary Kasanicki
- Andrea Haworth
- Helen Savage
- Melanie Babcock
- Martin G. Reese
- Mark Bale
- Emma Baple
- Christopher Boustred
- Helen Brittain
- Anna de Burca
- Marta Bleda
- Andrew Devereau
- Dina Halai
- Eik Haraldsdottir
- Zerin Hyder
- Dalia Kasperaviciute
- Christine Patch
- Dimitris Polychronopoulos
- Angela Matchan
- Razvan Sultana
- Mina Ryten
- Ana L.T. Tavares
- Carolyn Tregidgo
- Clare Turnbull
- Matthew Welland
- Suzanne Wood
- Catherine Snow
- Eleanor Williams
- Sarah Leigh
- Rebecca E. Foulger
- Louise C. Daugherty
- Olivia Niblock
- Ivone U. S. Leong
- Caroline F. Wright
- James O. J. Davies
- Charles Crichton
- James Welch
- Kerrie Woods
- Lara Abulhoul
- Paul Aurora
- Detlef Bockenhauer
- Alexander Broomfield
- Maureen Cleary
- Tanya Lam
- Mehul T. Dattani
- Emma Footitt
- Vijeya Ganesan
- Stephanie Grünewald
- Sandrine Compeyrot-Lacassagne
- Francesco Muntoni
- Clarissa Pilkington
- Rosaline Quinlivan
- Nikhil Thapar
- Colin Wallis
- Lucy R. Wedderburn
- Austen Worth
- Teofila Bueser
- Cecilia Compton
- Charu Deshpande
- Hiva Fassihi
- Eshika Haque
- Louise Izatt
- Dragana Josifova
- Shehla Mohammed
- Leema Robert
- Sarah Rose
- Deborah Ruddy
- Robert Sarkany
- Genevieve Say
- Adam C. Shaw
- Agata Wolejko
- Bishoy Habib
- Gavin Burns
- Sarah Hunter
- Russell J. Grocock
- Sean Humphray
- Peter N. Robinson
- Melissa A Haendel
- Michael A. Simpson
- Siddharth Banka
- Jill Clayton-Smith
- Sofia Douzgou
- Georgina Hall
- Huw B. Thomas
- Raymond T. O'Keefe
- Michel Michaelides
- Anthony T. Moore
- Sam Malka
- Nikolas Pontikos
- Andrew C. Browning
- Volker Straub
- Grainne S. Gorman
- Rita Horvath
- Richard Quinton
- Andrew M. Schaefer
- Patrick Yu-Wai-Man
- Douglass M. Turnbull
- Robert McFarland
- Robert W. Taylor
- Emer O’Connor
- Janice Yip
- Katrina Newland
- Huw R. Morris
- James Polke
- Nicholas W. Wood
- Carolyn Campbell
- Carme Camps
- Kate Gibson
- Nils Koelling
- Tracy Lester
- Andrea H. Németh
- Claire Palles
- Smita Y. Patel
- Noémi B. A. Roy
- Arjune Sen
- John B. Taylor
- Pilar Cacheiro
- Julius O. Jacobsen
- Eleanor G. Seaby
- Val Davison
- Lyn S. Chitty
- Angela Douglas
- Kikkeri N. Naresh
- Dom Mcmullan
- Sian Ellard
- I. Karen Temple
- Andrew D Mumford
- Gill Wilson
- Phil Beales
- Maria Bitner-Glindzicz
- Graeme C.M. Black
- John R. Bradley
- Paul Brennan
- John Burn
- Patrick F. Chinnery
- Perry M. Elliott
- Frances Flinter
- Henry Houlden
- Melita Irving
- William G. Newman
- Shamima Rahman
- John A. Sayer
- Jenny C. Taylor
- Andrew R. Webster
- Andrew O.M. Wilkie
- Willem H. Ouwehand
- F. Lucy Raymond
- John Chisholm
- Susan Hill
- David Bentley
- Richard H. Scott
- Tom Fowler
- Augusto Rendon
- Mark J. Caulfield
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- Stefanie C. Linden
- Cameron Watson
- Jacqueline Smith
- Samuel J. R. A. Chawner
- Thomas M. Lancaster
- Ffion Evans
- Nigel Williams
- David Skuse
- F. Lucy Raymond
- Jeremy Hall
- Michael John Owen
- David Edmund Johannes Linden
- Lee Anne Green Snyder
- Wendy K. Chung
- Anne M. Maillard
- Sébastien Jacquemont
- Marianne Bernadette van den Bree
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Citations (1) - 2021 Genetics in Medicine
- Chiara Klöckner
- Heinrich Sticht
- Pia Zacher
- Bernt Popp
- Holly E. Babcock
- Dewi P. Bakker
- Katy Barwick
- Michaela V Bonfert
- Carsten G. Bönnemann
- Eva H. Brilstra
- Wendy K. Chung
- Angus John Clarke
- Patrick Devine
- Sandra Donkervoort
- Jamie L. Fraser
- Jennifer Friedman
- Alyssa Gates
- Jamal Ghoumid
- Emma Hobson
- Gabriella Horvath
- Jennifer Keller-Ramey
- Boris Keren
- Manju A. Kurian
- Virgina Lee
- Kathleen A. Leppig
- Johan Lundgren
- Marie McDonald
- Heather M. McLaughlin
- Amy McTague
- Heather C. Mefford
- Cyril Mignot
- Mohamad A. Mikati
- Caroline Nava
- F. Lucy Raymond
- Julian R. Sampson
- Alba Sanchis-Juan
- Vandana Shashi
- Joseph T.C. Shieh
- Marwan Shinawi
- Anne Slavotinek
- Tommy Stödberg
- Nicholas Stong
- Jennifer A. Sullivan
- Ashley C. Taylor
- Tomi L. Toler
- Marie-José H. van den Boogaard
- Saskia N. van der Crabben
- Koen L.I. van Gassen
- Richard H. van Jaarsveld
- Jessica Van Ziffle
- Alexandrea Wadley
- Matias Wagner
- Kristen Wigby
- Saskia B. Wortmann
- Yuri A. Zarate
- Rikke S. Møller
- Johannes R. Lemke
- Konrad Platzer
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- Stefanie C. Linden
- Cameron Watson
- Jacqueline A. Smith
- Samuel J. R. A. Chawner
- Thomas M. Lancaster
- Ffion Evans
- Nigel Williams
- David Skuse
- F. Lucy Raymond
- Jeremy Hall
- Michael John Owen
- David Edmund Johannes Linden
- Lee Anne Green Snyder
- Wendy K. Chung
- Anne M. Maillard
- Sébastien Jacquemont
- Marianne Bernadette van den Bree
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Citations (1) -
- Ernest Turro
- William J. Astle
- Karyn Megy
- Stefan Gräf
- Daniel Greene
- Olga Shamardina
- Hana Lango Allen
- Alba Sanchis-Juan
- Mattia Frontini
- Chantal Thys
- Jonathan Stephens
- Rutendo Mapeta
- Oliver S. Burren
- Kate Downes
- Matthias Haimel
- Salih Tuna
- Sri V.V. Deevi
- Timothy J. Aitman
- David Bennett
- Paul Calleja
- Keren J. Carss
- Mark J. Caulfield
- Patrick F. Chinnery
- Peter H. Dixon
- Daniel P. Gale
- Roger James
- Ania Koziell
- Michael Laffan
- Adam P. Levine
- Eamonn R. Maher
- Hugh S. Markus
- Joannella Morales
- Nicholas W. Morrell
- Andrew D Mumford
- Elizabeth Ormondroyd
- Stuart Rankin
- Augusto Rendon
- Sylvia Richardson
- Irene Roberts
- Noemi B. A. Roy
- Moin A. Saleem
- Kenneth G. C. Smith
- Hannah Stark
- Rhea Y.Y. Tan
- Andreas C. Themistocleous
- Adrian J. Thrasher
- Hugh Watkins
- Andrew R. Webster
- Martin R. Wilkins
- Catherine Williamson
- James Whitworth
- Sean Humphray
- David R. Bentley
- Nathalie Kingston
- Neil Walker
- John Bradley
- Sofie Ashford
- Christopher J. Penkett
- Kathleen Freson
- Kathleen Stirrups
- F. Lucy Raymond
- Willem H. Ouwehand
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Citations (1) - 2020 Brain
- Laura Cif
- Diane Demailly
- Jean-Pierre Lin
- Katy E.S. Barwick
- Mario Sa
- Lucia Abela
- Sony Malhotra
- Wui K Chong
- Dora Steel
- Alba Sanchis-Juan
- Adeline Ngoh
- Natalie Trump
- Esther Meyer
- Xavier Vasques
- Julia Rankin
- Meredith W Allain
- Carolyn D. Applegate
- Sanaz Attaripour Isfahani
- Julien Baleine
- Bettina Balint
- Jennifer A. Bassetti
- Emma L. Baple
- Kailash P. Bhatia
- Catherine Blanchet
- Lydie Burglen
- Gilles Cambonie
- Emilie Chan-Seng
- Sandra Chantot-Bastaraud
- Fabienne Cyprien
- Christine Coubes
- Vincent dHardemare
- Deciphering Developmental Disorders Study
- Asif Doja
- Nathalie Dorison
- Diane Doummar
- Marisela E Dy-Hollins
- Ellyn Farrelly
- David Fitzpatrick
- Conor Fearon
- Elizabeth L. Fieg
- Brent L. Fogel
- Eva B. Forman
- Rachel Fox
- William A. Gahl
- Serena Galosi
- Victoria Gonzalez
- Tracey D Graves
- Allison Gregory
- Mark Hallett
- Harutomo Hasegawa
- Susan J. Hayflick
- Ada Hamosh
- Marie Hully
- Sandra Jansen
- Suh Young Jeong
- Joel B. Krier
- Sidney Krystal
- Kishore R. Kumar
- Chloé Laurencin
- Hane Lee
- Gaetan Lesca
- Laurence Lion-François
- Timothy Lynch
- Neil Mahant
- Julian A. Martinez-Agosto
- Christophe Milési
- Kelly A. Mills
- Michel Mondain
- Hugo Morales-Briceño
- Nihr BioResource
- John R. Østergaard
- Swasti Pal
- Juan C. Pallais
- Frederique Pavillard
- Pierre-François Perrigault
- Andrea K Petersen
- Gustavo Polo
- Gaëtan Poulen
- Tuula Rinne
- Thomas Roujeau
- Caleb Rogers
- Agathe Roubertie
- Michelle Sahagian
- Elise Schaefer
- Laila Selim
- Richard Selway
- Nutan Sharma
- Rebecca Signer
- Ariane Soldatos
- David A. Stevenson
- Fiona Stewart
- Michel Tchan
- Ishwar C. Verma
- Bert B.A. de Vries
- Jenny L. Wilson
- Derek Wong
- Raghda Zaitoun
- Dolly Zhen
- Anna Znaczko
- Russell C. Dale
- Claudio M. de Gusmao
- Jennifer Friedman
- Victor S.C. Fung
- Mary D. King
- Shekeeb S. Mohammad
- Luis Rohena
- Jeff L. Waugh
- Camilo Toro
- F. Lucy Raymond
- Maya Topf
- Philippe Coubes
- Kathleen M. Gorman
- Manju A. Kurian
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Citations (12) - 2020 Genetics in Medicine
- Chiara Klöckner
- Heinrich Sticht
- Pia Zacher
- Bernt Popp
- Holly E. Babcock
- Dewi P. Bakker
- Katy Barwick
- Michaela Bonfert
- Carsten G. Bönnemann
- Eva H. Brilstra
- Wendy K. Chung
- Angus John Clarke
- Patrick Devine
- Sandra Donkervoort
- Jamie L. Fraser
- Jennifer Friedman
- Alyssa Gates
- Jamal Ghoumid
- Emma Hobson
- Gabriella Horvath
- Jennifer Keller-Ramey
- Boris Keren
- Manju A. Kurian
- Virgina Lee
- Kathleen A. Leppig
- Johan Lundgren
- Marie McDonald
- Amy McTague
- Heather C. Mefford
- Cyril Mignot
- Mohamad A. Mikati
- Caroline Nava
- F. Lucy Raymond
- Julian R. Sampson
- Alba Sanchis-Juan
- Vandana Shashi
- Joseph T.C. Shieh
- Marwan Shinawi
- Anne Slavotinek
- Tommy Stödberg
- Nicholas Stong
- Jennifer A. Sullivan
- Ashley C. Taylor
- Tomi L. Toler
- Marie-José H. van den Boogaard
- Saskia N. van der Crabben
- Koen L.I. van Gassen
- Richard H. van Jaarsveld
- Jessica Van Ziffle
- Alexandrea Wadley
- Matias Wagner
- Kristen Wigby
- Saskia B. Wortmann
- Yuri A. Zarate
- Rikke S. Møller
- Johannes R. Lemke
- Konrad Platzer
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