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- Maya Chopra
- Meriel McEntagart
- Jill Clayton-Smith
- Konrad Platzer
- Anju Shukla
- Katta M. Girisha
- Anupriya Kaur
- Parneet Kaur
- Rolph Pfundt
- Hermine E. Veenstra-Knol
- Grazia M.S. Mancini
- Gerarda Cappuccio
- Nicola Brunetti-Pierri
- Fanny Kortüm
- Maja Hempel
- Jonas Denecke
- Anna Lehman
- Causes Study
- Tjitske Kleefstra
- Kyra E Stuurman
- Martina Wilke
- Michelle L. Thompson
- E. Martina Bebin
- Emilia K. Bijlsma
- Mariëtte J.V. Hoffer
- Cacha M. P. C. D. Peeters-Scholte
- Anne Slavotinek
- William A. Weiss
- Tiffany Yip
- Uğur Hodoğlugil
- Amy Whittle
- Janette DiMonda
- Juanita Neira
- Sandra Yang
- Amelia Kirby
- Hailey Pinz
- Rosan Lechner
- Frank Sleutels
- Ingo Helbig
- Sarah E. McKeown
- Katherine L. Helbig
- Rebecca Willaert
- Jane Juusola
- Jennifer Semotok
- Medard Hadonou
- John Short
- Naomi Yachelevich
- Sajel Lala
- Alberto Fernández-Jaen
- Janvier Porta Pelayo
- Chiara Klöckner
- Susanne B. Kamphausen
- Rami Abou Jamra
- Maria Arélin
- A Micheil Innes
- Anni Niskakoski
- Sam Amin
- Maggie Williams
- Julie Evans
- Sarah F. Smithson
- Damian Smedley
- Anna de Burca
- Usha Kini
- Martin B. Delatycki
- Lyndon Gallacher
- Alison Yeung
- Lynn Pais
- Michael Field
- Ellenore Martin
- Perrine Charles
- Thomas Courtin
- Boris Keren
- Maria Iascone
- Anna Cereda
- Gemma Poke
- Véronique Abadie
- Christel Chalouhi
- Padmini Parthasarathy
- Benjamin J. Halliday
- Stephen P. Robertson
- Stanislas Lyonnet
- Jeanne Amiel
- Christopher T. Gordon
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Citations (1) -
- Zornitza Stark
- Rebecca E. Foulger
- Eleanor Williams
- Bryony A. Thompson
- Chirag Patel
- Sebastian Lunke
- Catherine Snow
- Ivone U.S. Leong
- Arina Puzriakova
- Louise C. Daugherty
- Sarah Leigh
- Christopher Boustred
- Olivia Niblock
- Antonio Rueda Martin
- Oleg Gerasimenko
- Kevin Savage
- William Bellamy
- Victor S Lin
- Roman Valls
- Lavinia Gordon
- Helen K. Brittain
- Ellen R.A. Thomas
- Ana Lisa Taylor Tavares
- Meriel McEntagart
- Susan M. White
- Tiong Yang Tan
- Alison Yeung
- Lilian Downie
- Ivan Macciocca
- Elena Savva
- Crystle Lee
- Ain Roesley
- Paul De Fazio
- Jane Deller
- Zandra C. Deans
- Sue Hill
- Mark J. Caulfield
- Kathryn N. North
- Richard H. Scott
- Augusto Rendon
- Oliver Hofmann
- Ellen M. McDonagh
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Citations (0) -
- Félixe Pelletier
- Stefanie Perrier
- Ferdy K. Cayami
- Amytice Mirchi
- Stephan Saikali
- Luan T. Tran
- Nicole Ulrick
- Kether Guerrero
- Emmanouil Rampakakis
- Rosalina M. L. van Spaendonk
- Sakkubai Naidu
- Daniela Pohl
- William T. Gibson
- Michelle Demos
- Cyril Goizet
- Ingrid Tejera-Martin
- Ana Potic
- Brent L. Fogel
- Bernard Brais
- Michel Sylvain
- Guillaume Sébire
- Charles Marques Lourenço
- Joshua L. Bonkowsky
- Coriene E. Catsman-Berrevoets
- Pedro S. Pinto
- Sandya Tirupathi
- Petter Strømme
- Ton J. de Grauw
- Dorota Gieruszczak-Białek
- Ingeborg Krägeloh-Mann
- Hanna Mierzewska
- Heike Philippi
- Julia Rankin
- Tahir Atik
- Brenda Banwell
- William S. Benko
- A Blaschek
- Annette Bley
- Eugen Boltshauser
- Drago Bratkovic
- Klára Brožová
- Icíar Cimas
- Christopher Clough
- Bernard Corenblum
- Argirios Dinopoulos
- Gail Dolan
- Flavio Faletra
- Raymond Fernandez
- Janice M. Fletcher
- Maria Eugenia Garcia Garcia
- Paolo Gasparini
- Janina Gburek-Augustat
- Dolores Gonzalez Moron
- Aline Hamati
- Inga Harting
- Christoph Hertzberg
- Alan Hill
- Grace M. Hobson
- A. Micheil Innes
- Marcelo Andrés Kauffman
- Susan M. Kirwin
- Gerhard Kluger
- Petra Kolditz
- Urania Kotzaeridou
- Roberta La Piana
- Eriskay Liston
- William McClintock
- Meriel McEntagart
- Fiona Haslam McKenzie
- Serge Melançon
- Anjum Misbahuddin
- Mohnish Suri
- Fernando I. Monton
- Sébastien Moutton
- Raymond P J Murphy
- Miriam Nickel
- Huseyin Onay
- Simona Orcesi
- Ferda Ozkinay
- Steffi Patzer
- Helio Pedro
- Sandra Pekic
- Mercedes Pineda Marfá
- Amy Pizzino
- Barbara Plecko
- Bwee Tien Poll-The
- Vera Popovic
- Dietz Rating
- Marie-France Rioux
- Norberto Rodríguez-Espinosa
- Anne Ronan
- John R. Østergaard
- Elsa Rossignol
- Rocío Sánchez-Carpintero
- Anna Schossig
- Nesrin Senbil
- Laura Roos
- Cathy A. Stevens
- Matthis Synofzik
- László Sztriha
- Daniel Tibussek
- Dagmar Timmann
- Davide Tonduti
- Bart P.C. van de Warrenburg
- María Vázquez-López
- Sunita Venkateswaran
- Pontus Wasling
- Evangeline Wassmer
- Richard Webster
- Gert Wiegand
- Grace Yoon
- Joost Rotteveel
- Raphael Schiffmann
- Marjo S. van der Knaap
- Adeline Vanderver
- Gabriel Á. Martos Moreno
- Constantin Polychronakos
- Nicole I. Wolf
- Geneviève Bernard
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Citations (8) - 2020 Genetics in Medicine
- Hannah Stamberger
- Trine Bjørg Hammer
- Elena Gardella
- Danique R.M. Vlaskamp
- Birgitte Bertelsen
- Simone Mandelstam
- Iris M de Lange
- Jing Zhang
- Candace T. Myers
- Christina Fenger
- Zaid Afawi
- Edith P. Almanza Fuerte
- Danielle M. Andrade
- Yunus Balcik
- Bruria Ben-Zeev
- Mark F Bennett
- Samuel F. Berkovic
- Bertrand Isidor
- Arjan Bouman
- Eva H. Brilstra
- Øyvind L. Busk
- Anita Cairns
- Roseline Caumes
- Nicolas Chatron
- Russell C. Dale
- Christa de Geus
- Patrick Edery
- Deepak Gill
- Jacob Bie Granild-Jensen
- Lauren Gunderson
- Boudewijn Gunning
- Gali Heimer
- Johan R Helle
- Michael S. Hildebrand
- Georgie Hollingsworth
- Volodymyr Kharytonov
- Eric W. Klee
- Bobby P. C. Koeleman
- David A. Koolen
- Christian Korff
- Sébastien Küry
- Gaetan Lesca
- Dorit Lev
- Richard J. Leventer
- Mark T. Mackay
- Erica L. Macke
- Meriel McEntagart
- Shekeeb S. Mohammad
- Pauline Monin
- Martino Montomoli
- Eva Morava
- Sébastien Moutton
- Alison M. Muir
- Elena Parrini
- Peter Procopis
- Emmanuelle Ranza
- Laura Reed
- Philipp S. Reif
- Felix Rosenow
- Massimiliano Rossi
- Lynette G. Sadleir
- Tara Sadoway
- Helenius J. Schelhaas
- Amy L. Schneider
- Krati Shah
- Ruth Shalev
- Sanjay M. Sisodiya
- Thomas Smol
- Connie T. R. M. Stumpel
- Kyra E Stuurman
- Joseph D. Symonds
- Frédéric Tran Mau-Them
- Nienke E. Verbeek
- Judith S. Verhoeven
- Geoffrey Wallace
- Keren Yosovich
- Yuri A. Zarate
- Ayelet Zerem
- Sameer M. Zuberi
- Renzo Guerrini
- Heather C. Mefford
- Chirag Patel
- Yue Hua Zhang
- Rikke S. Møller
- Ingrid E. Scheffer
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Citations (3) - 2020 Genetics in Medicine
- Theresa Brunet
- Kirsty McWalter
- Katharina Mayerhanser
- Grace M. Anbouba
- Amy Armstrong-Javors
- Ingrid Bader
- Evan H. Baugh
- Amber Begtrup
- Caleb Bupp
- Bert Callewaert
- Anna Cereda
- Margot A. Cousin
- Juan C Del Rey Jimenez
- Laurie Demmer
- Nikita R. Dsouza
- Nicole Fleischer
- Ralitza H. Gavrilova
- Sumedha Ghate
- Elisabeth Graf
- Andrew Green
- Sarah R Green
- Maria Iascone
- Ameni Kdissa
- Dirk Klee
- Eric W. Klee
- Emily Lancaster
- Kristin Lindstrom
- Johannes A. Mayr
- Meriel McEntagart
- Naomi Meeks
- Dana Mittag
- Harrison Moore
- Anne K Olsen
- Damara Ortiz
- Gretchen Parsons
- Loren D M Pena
- Richard Person
- Sumit Punj
- Gonzalo Alonso Ramos-Rivera
- Maria J. Guillen Sacoto
- G. Bradley Schaefer
- Rhonda E. Schnur
- Tiana M. Scott
- Daryl A. Scott
- Carolyn R Serbinski
- Vandana Shashi
- Victoria M. Siu
- Barbro Stadheim
- Jennifer A. Sullivan
- Jana Švantnerová
- Lea Velsher
- David S. Wargowski
- Ingrid M. Wentzensen
- Dagmar Wieczorek
- Juliane Winkelmann
- Patrick Yap
- Michael Zech
- Michael T. Zimmermann
- Thomas Meitinger
- Felix Distelmaier
- Matias Wagner
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Citations (0) - 2020 Annals of Neurology
- Dora Steel
- Michael Zech
- Chen Zhao
- Katy Es Barwick
- Derek Burke
- Diane Demailly
- Kishore R. Kumar
- Giovanna Zorzi
- Nardo Nardocci
- Rauan Kaiyrzhanov
- Matias Wagner
- Arcangela Iuso
- Riccardo Berutti
- Matej Skorvanek
- Ján Necpál
- Ryan L. Davis
- Sarah Wiethoff
- Kshitij Mankad
- Sniya Sudhakar
- Arianna Ferrini
- Suvasini Sharma
- Erik-Jan Kamsteeg
- Marina A. J. Tijssen
- Corien Verschuuren
- Martje E. van Egmond
- Joanna M. Flowers
- Meriel McEntagart
- Arianna Tucci
- Philippe Coubes
- Bernabe I. Bustos
- Paulina Gonzalez-Latapi
- Stephen Tisch
- P. Darveniza
- Kathleen M. Gorman
- Kathryn J. Peall
- Kai Bötzel
- Jan C. Koch
- Tomasz Kmiec
- Barbara Plecko
- Sylvia Boesch
- Bernhard Haslinger
- Robert Jech
- Barbara Garavaglia
- Nicholas W. Wood
- Henry Houlden
- Paul Gissen
- Steven Lubbe
- Carolyn M. Sue
- Laura Cif
- Niccolo E. Mencacci
- Glenn Anderson
- Manju A. Kurian
- Juliane Winkelmann
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Citations (24) -
- Reham Alharatani
- Athina Ververi
- Ana Beleza-Meireles
- Weizhen Ji
- Emily K. Mis
- Quinten T Patterson
- John N. Griffin
- Nabina Bhujel
- Caitlin A. Chang
- Abhijit Dixit
- Monica Konstantino
- Christopher Healy
- Sumayyah Hannan
- Natsuko Neo
- Alex Cash
- Dong Li
- Elizabeth J. Bhoj
- Elaine H. Zackai
- Ruth Cleaver
- Diana Baralle
- Meriel McEntagart
- Ruth Newbury-Ecob
- Richard H. Scott
- Jane A. Hurst
- Ping-Yee Billie Au
- Marie Therese Hosey
- Mustafa K. Khokha
- Denise K. Marciano
- Saquib A. Lakhani
- Karen J. Liu
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Citations (6) - 2020 Clinical Genetics
- Viviana Cordeddu
- Erica L. Macke
- Francesca Clementina Radio
- Stefania Lo Cicero
- Francesca Pantaleoni
- Massimo Tatti
- Emanuele Bellacchio
- Andrea Ciolfi
- Emanuele Agolini
- Alessandro Bruselles
- Nicola Brunetti-Pierri
- Mohnish Suri
- Katherine S. Josephs
- Meriel McEntagart
- Brendan Lanpher
- Katherine C. Nickels
- Andrea Haworth
- Laura Reed
- Gerarda Cappuccio
- Isabella Mammi
- Jessica M. Tarnowski
- Antonio Novelli
- Daniela Melis
- Bert Callewaert
- Bruno Dallapiccola
- Eric W. Klee
- Marco Tartaglia
- Deciphering Developmental Disorders study
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Citations (1) - Show All
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Citations (6) - 2019 Annals of Neurology
- Yi Shiau Ng
- Mika H. Martikainen
- Grainne S. Gorman
- Alasdair P. Blain
- Enrico Bugiardini
- Apphia Bunting
- Andrew M. Schaefer
- Charlotte L. Alston
- Emma L. Blakely
- Sunil Sharma
- Imelda Hughes
- Albert Lim
- Christian de Goede
- Meriel McEntagart
- Stefan Spinty
- Iain Horrocks
- Mark E Roberts
- Cathy E. Woodward
- Patrick F. Chinnery
- Rita Horvath
- Victoria Nesbitt
- Carl Fratter
- Joanna Poulton
- Michael G. Hanna
- Robert D. S. Pitceathly
- Robert W. Taylor
- Doug M. Turnbull
- Robert McFarland
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Citations (19)
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