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- Joery den Hoed
- Elke de Boer
- Norine Voisin
- Alexander J. M. Dingemans
- Nicolas Guex
- Laurens Wiel
- Christoffer Nellåker
- S. M. Amudhavalli
- Siddharth Banka
- Frederique S. Bena
- Bruria Ben-Zeev
- Vincent R. Bonagura
- Ange-Line Bruel
- Theresa Brunet
- Han G. Brunner
- Hui B. Chew
- Jacqueline Chrast
- Loreta Cimbalistiene
- Hilary Coon
- Emmanuèlle C. Délot
- Florence Demurger
- Anne-Sophie Denommé-Pichon
- Christel Depienne
- Dian Donnai
- David A. Dyment
- Orly Elpeleg
- Laurence Faivre
- Christian Gilissen
- Leslie Granger
- Benjamin Haber
- Yasuo Hachiya
- Yasmin Hamzavi Abedi
- Jennifer Hanebeck
- Jayne Y. Hehir-Kwa
- Brooke Horist
- Toshiyuki Itai
- Adam Jackson
- Rosalyn Jewell
- Kelly L. Jones
- Shelagh Joss
- Hirofumi Kashii
- Mitsuhiro Kato
- Anja A Kattentidt-Mouravieva
- Fernando Kok
- Urania Kotzaeridou
- Vidya Krishnamurthy
- Vaidutis Kučinskas
- Alma Kuechler
- Alinoe Lavillaureix
- Pengfei Liu
- Linda Manwaring
- Naomichi Matsumoto
- Benoît Mazel
- Kirsty McWalter
- Vardiella Meiner
- Mohamad A. Mikati
- Satoko Miyatake
- Takeshi Mizuguchi
- Lip H. Moey
- Shehla Mohammed
- Hagar Mor-Shaked
- Hayley S. Mountford
- Ruth Newbury-Ecob
- Sylvie Odent
- Laura Elena Orec
- Matthew Osmond
- Timothy Blake Palculict
- Michael W. Parker
- Andrea K. Petersen
- Rolph Pfundt
- Eglė Preikšaitienė
- Kelly Radtke
- Emmanuelle Ranza
- Jill A. Rosenfeld
- Teresa Santiago-Sim
- Caitlin Schwager
- Margje Sinnema
- Lot Snijders Blok
- Rebecca C. Spillmann
- Alexander P. A. Stegmann
- Isabelle Thiffault
- Linh Tran
- Adi Vaknin-Dembinsky
- Juliana H. Vedovato-dos-Santos
- Samantha A. Schrier Vergano
- Eric Vilain
- Antonio Vitobello
- Matias Wagner
- Androu Waheeb
- Marcia C. Willing
- Britton Zuccarelli
- Usha Kini
- Dianne F. Newbury
- Tjitske Kleefstra
- Alexandre Reymond
- Simon E. Fisher
- Lisenka E.L.M. Vissers
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Citations (6) - 2021 Clinical Genetics
- Elizabeth E. Palmer
- Chloe Whitton
- Mais Hashem
- Robin D. Clark
- Subhadra Ramanathan
- Lois J. Starr
- Danita Velasco
- John Karl de Dios
- Emily Singh
- Valerie Cormier Daire
- Maya Chopra
- Lance H. Rodan
- Christoffer Nellåker
- Shenela Lakhani
- Eric J. Mallack
- Karin Panzer
- Alpa Sidhu
- Ingrid M. Wentzensen
- Didier Lacombe
- Vincent Michaud
- Fowzan S. Alkuraya
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Citations (0) - 2021 bioRxivShow All
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Citations (0) -
- Susan M. White
- Elizabeth J. Bhoj
- Christoffer Nellåker
- Augusta M.A. Lachmeijer
- Aren E. Marshall
- Kym M. Boycott
- Dong Li
- Wendy E. Smith
- Taila Hartley
- Arran McBride
- Michelle E. Ernst
- Alison S. May
- Dagmar Wieczorek
- Rami Abou Jamra
- Margarete Koch-Hogrebe
- Katrin Õunap
- Sander Pajusalu
- K.L.I. van Gassen
- Simon Sadedin
- Sara Ellingwood
- Tiong Yang Tan
- John Christodoulou
- Jaime Barea
- Paul J. Lockhart
- Marjan M. Nezarati
- Kristin D. Kernohan
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Citations (0) - 2020 bioRxiv
- J. den Hoed
- E de Boer
- Norine Voisin
- Ajm Dingemans
- Nicolas Guex
- Laurens Wiel
- Christoffer Nellåker
- SM Amudhavalli
- Siddharth Banka
- FS Bena
- B. Ben Zeev
- VR Bonagura
- A-L Bruel
- T Brunet
- Han G. Brunner
- HG Chew
- Jacqueline Chrast
- L Cimbalistien
- Hillary Coon
- EC Delot
- F. Démurger
- A-S Denomme-Pichon
- Christel Depienne
- Dian Donnai
- Da Dyment
- Orly Elpeleg
- Laurence Faivre
- Christian Gilissen
- L Granger
- B Haber
- Y Hachiya
- Y Hamzavi Abedi
- J Hanebeck
- JY Hehir-Kwa
- B Horist
- T Itai
- A. Jackson
- R Jewell
- KL Jones
- S. Joss
- H. Kashii
- M. Kato
- AA Kattentidt-Mouravieva
- Fernando Kok
- U Kotzaeridou
- V. Krishnamurthy
- Vaidutis Kučinskas
- A Kuechler
- A Lavillaureix
- Pengfei Liu
- L Manwaring
- Naomichi Matsumoto
- B. Mazel
- Kirsty McWalter
- V. Meiner
- MA Mikati
- Satoko Miyatake
- Takeshi Mizuguchi
- LH Moey
- Shehla Mohammed
- Hagar Mor-Shaked
- Hayley S. Mountford
- Ruth Newbury-Ecob
- S Odent
- L Orec
- M. Osmond
- TB Palculict
- M Parker
- A Petersen
- R. Pfundt
- E Preiksaitien
- K Radtke
- E. Ranza
- Jill A. Rosenfeld
- T. Santiago-Sim
- C Schwager
- Margje Sinnema
- L Snijders Blok
- Rebecca C. Spillmann
- Apa Stegmann
- Isabelle Thiffault
- L Tran
- A. Vaknin-Dembinsky
- JH Vedovato-dos-Santos
- SA Vergano
- Eric Vilain
- A Vitobello
- Matias Wagner
- A Waheeb
- M Willing
- B Zuccarelli
- Usha Kini
- Dianne F. Newbury
- Tjitske Kleefstra
- Alexandre Reymond
- Simon E. Fisher
- Lelm Vissers
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Citations (1) - 2020 Nature Genetics
- Gareth Baynam
- Stephen C. Groft
- Francois H. van der Westhuizen
- Safiyya D. Gassman
- Kelly du Plessis
- Emily P. Coles
- Eda Selebatso
- Moses Selebatso
- Boikobo Gaobinelwe
- Tebogo Selebatso
- Dipesalema Joel
- Virginia A. Llera
- Barend Christiaan Vorster
- Barbara Wuebbels
- Benjamin Djoudalbaye
- Christopher P. Austin
- Judit Kumuthini
- John Forman
- Petra Kaufmann
- James Chipeta
- Désirée Gavhed
- Annika Larsson
- Maja Stojiljkovic
- Ann Nordgren
- Emilio J. A. Roldán
- Domenica Taruscio
- Durhane Wong-Rieger
- Kristen Nowak
- Gemma A. Bilkey
- Simon Easteal
- Sarah Bowdin
- Juergen K. V. Reichardt
- Sergi Beltran
- Kenjiro Kosaki
- Clara van Karnebeek
- Mengchun Gong
- Zhang Shuyang
- Ruty Mehrian-Shai
- David R. Adams
- Ratna D. Puri
- Feng Zhang
- Nicholas Pachter
- Maximilian Muenke
- Christoffer Nellåker
- William A. Gahl
- Helene Cederroth
- Stephanie Broley
- Maryke Schoonen
- Kym M. Boycott
- Manuel Posada
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Citations (9) -
- Yaffa R. Rubinstein
- Peter N. Robinson
- William A. Gahl
- Paul Avillach
- Gareth Baynam
- Helene Cederroth
- Rebecca M. Goodwin
- Stephen C. Groft
- Mats G. Hansson
- Nomi L. Harris
- Vojtech Huser
- Deborah Mascalzoni
- Julie A. McMurry
- Matthew Might
- Christoffer Nellåker
- Barend Mons
- Dina N. Paltoo
- Jonathan Pevsner
- Manuel Posada
- Alison P Rockett-Frase
- Marco Roos
- Tamar B. Rubinstein
- Domenica Taruscio
- Esther van Enckevort
- Melissa A Haendel
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Citations (9) - 2019 Genetics in Medicine
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Citations (10) -
- Christoffer Nellåker
- Fowzan S. Alkuraya
- Gareth Baynam
- Raphael Bernier
- Francois P. Bernier
- Vanessa Boulanger
- Michael Brudno
- Han G. Brunner
- Jill Clayton-Smith
- Benjamin Cogné
- Hugh Dawkins
- Bert B.A. deVries
- Sofia Douzgou
- Tracy Dudding-Byth
- Evan E. Eichler
- Michael Ferlaino
- Karen Fieggen
- Helen V. Firth
- David Fitzpatrick
- Dylan Gration
- Tudor Groza
- Melissa Haendel
- Nina Hallowell
- Ada Hamosh
- Jayne Y. Hehir-Kwa
- Marc-Phillip Hitz
- Mark Hughes
- Usha Kini
- Tjitske Kleefstra
- R. Frank Kooy
- Peter Krawitz
- Sébastien Küry
- Melissa Lees
- Gholson J. Lyon
- Stanislas Lyonnet
- Julien L. Marcadier
- Stephen Meyn
- Veronika Moslerová
- Juan M. Politei
- Cathryn Poulton
- F Lucy Raymond
- Margot R.F. Reijnders
- Peter N. Robinson
- Corrado Romano
- Catherine M. Rose
- David C. G. Sainsbury
- Lyn Schofield
- Vernon R. Sutton
- Marek Turnovec
- Anke Van Dijck
- Hilde Van Esch
- Andrew O.M. Wilkie
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Citations (7) -
- Benjamin Cogné
- Sophie Ehresmann
- Eliane Beauregard-Lacroix
- Justine Rousseau
- Thomas Besnard
- Thomas Garcia
- Slavé Petrovski
- Shiri Avni
- Kirsty McWalter
- Patrick R. Blackburn
- Stephan J. Sanders
- Kévin Uguen
- Jacqueline Harris
- Julie S. Cohen
- Moira Blyth
- Anna Lehman
- Jonathan N. Berg
- Mindy H. Li
- Usha Kini
- Shelagh Joss
- Charlotte von der Lippe
- Christopher T. Gordon
- Jennifer B. Humberson
- Laurie Robak
- Daryl A. Scott
- Vernon R. Sutton
- Cara M. Skraban
- Jennifer J. Johnston
- Annapurna Poduri
- Magnus Nordenskjöld
- Vandana Shashi
- Erica H. Gerkes
- Ernie M.H.F. Bongers
- Christian Gilissen
- Yuri A. Zarate
- Malin Kvarnung
- Kevin P. Lally
- Peggy Kulch
- Brina Daniels
- Andrés Hernández-García
- Nicholas Stong
- Julie McGaughran
- Kyle Retterer
- Kristian Tveten
- Jennifer A. Sullivan
- Madeleine R. Geisheker
- Asbjørg Stray-Pedersen
- Jennifer Tarpinian
- Eric W. Klee
- Julie C. Sapp
- Jacob Zyskind
- Øystein Lunde Holla
- Emma Bedoukian
- Francesca Filippini
- Anne Guimier
- Arnaud Picard
- Øyvind Løvold Busk
- Jaya Punetha
- Rolph Pfundt
- Anna Lindstrand
- Ann Nordgren
- Fayth M. Kalb
- Megha Desai
- Ashley Harmon Ebanks
- Shalini N. Jhangiani
- Tammie Dewan
- Zeynep Coban Akdemir
- Aida Telegrafi
- Elaine H. Zackai
- Amber Begtrup
- Xiaofei Song
- Annick Toutain
- Ingrid M. Wentzensen
- Sylvie Odent
- Dominique Bonneau
- Xénia Latypova
- Wallid Deb
- Sylvia Redon
- Frédéric Bilan
- Marine Legendre
- Caitlin Troyer
- Kerri Whitlock
- Oana Caluseriu
- Marine I. Murphree
- Pavel N. Pichurin
- Katherine Agre
- Ralitza H. Gavrilova
- Tuula Rinne
- Meredith Park
- Catherine Shain
- Erin L. Heinzen
- Rui Xiao
- Jeanne Amiel
- Stanislas Lyonnet
- Bertrand Isidor
- Leslie G. Biesecker
- Daniel H. Lowenstein
- Jennifer E. Posey
- Anne-Sophie Denommé-Pichon
- Claude Férec
- Xiang-Jiao Yang
- Jill A. Rosenfeld
- Brigitte Gilbert-Dussardier
- Séverine Audebert-Bellanger
- Richard Redon
- Holly A.F. Stessman
- Christoffer Nellåker
- Yaping Yang
- James R. Lupski
- David B. Goldstein
- Evan E. Eichler
- Francois V. Bolduc
- Stéphane Bézieau
- Sébastien Küry
- Philippe M. Campeau
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