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- 2021 bioRxiv
- Marjolein J.A. Weerts
- Kristina Lanko
- Francisco J. Guzmán-Vega
- Adam Jackson
- Reshmi Ramakrishnan
- Kelly J. Cardona-Londoño
- Karla A. Peña-Guerra
- Yolande van Bever
- Barbara W. van Paassen
- Anneke Kievit
- Marjon van Slegtenhorst
- Nicholas M. Allen
- Caroline M. Kehoe
- Hannah K. Robinson
- Lewis Pang
- Selina H Banu
- Mashaya Zaman
- Stephanie Efthymiou
- Henry Houlden
- Irma Järvelä
- Leena Lauronen
- Tuomo Määttä
- Isabelle Schrauwen
- Suzanne M. Leal
- Claudia A. L. Ruivenkamp
- Daniela Q.C.M. Barge-Schaapveld
- Cacha M. P. C. D. Peeters-Scholte
- Hamid Galehdari
- Neda Mazaheri
- Sanjay M. Sisodiya
- Victoria Harrison
- Angela Sun
- Jenny Thies
- Luis Alberto Pedroza
- Yana Lara-Taranchenko
- Ivan K. Chinn
- James R. Lupski
- Alexandra Garza-Flores
- Jefferey McGlothlin
- Lin Yang
- Shaoping Huang
- Xiaodong Wang
- Tamison Jewett
- Gretchen E. Rosso
- Xi Lin
- Shehla Mohammed
- J. Lawrence Merritt
- Ghayda M. Mirzaa
- Andrew E. Timms
- Joshua Scheck
- Mariet W. Elting
- Abeltje M Polstra
- Lauren Schenck
- Maura R.Z. Ruzhnikov
- Annalisa Vetro
- Martino Montomoli
- Renzo Guerrini
- Daniel C. Koboldt
- Theresa Mihalic Mosher
- Matthew Pastore
- Kim L. McBride
- Jing Peng
- Zou Pan
- Marjolein H. Willemsen
- Susanne Koning
- Peter D. Turnpenny
- Bert B.A. de Vries
- Christian Gilissen
- Rolph Pfundt
- Melissa Lees
- Stephen R. Braddock
- Kara C. Klemp
- Fleur Vansenne
- Marielle E. van Gijn
- Catherine Quindipan
- Matthew A. Deardorff
- J. Austin Hamm
- Abbey M. Putnam
- Rebecca Baud
- Laurence E. Walsh
- Sally Ann Lynch
- Julia Baptista
- Richard Person
- Kristin G. Monaghan
- Amy Crunk
- Jennifer Keller-Ramey
- Adi Reich
- Houda Zghal Elloumi
- Marielle Alders
- Jennifer Kerkhof
- Haley McConkey
- Sadegheh Haghshenas
- Reza Maroofian
- Bekim Sadikovic
- Siddharth Banka
- Stefan T. Arold
- Tahsin Stefan Barakat
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Citations (1) - 2021 Genetics in Medicine
- Halie J May
- Jaehoon Jeong
- Anya Revah Politi
- Julie S. Cohen
- Anna Chassevent
- Julia Baptista
- Evan H. Baugh
- Louise Bier
- Armand Bottani
- Maria Teresa Carminho A Rodrigues
- Charles Conlon
- Joel Victor Fluss
- Michel Guipponi
- Chong Ae Kim
- Naomichi Matsumoto
- Richard Person
- Michelle Primiano
- Julia Rankin
- Marwan Shinawi
- Constance Smith-Hicks
- Aida Telegrafi
- Samantha Toy
- Yuri Uchiyama
- Vimla Aggarwal
- David Goldstein
- Katherine W. Roche
- Kwame Anyane-Yeboa
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Citations (1) - 2021 medRxiv
- Angela Peron
- Felice DArco
- Kimberly A. Aldinger
- Constance Smith-Hicks
- Christiane Zweier
- Gyri Aasland Gradek
- Kimberley Bradbury
- Andrea Accogli
- Erica F. Andersen
- Ping-Yee Billie Au
- Roberta Battini
- Daniah Beleford
- Lynne M. Bird
- Arjan Bouman
- Ange-Line Bruel
- Øyvind L. Busk
- Philippe M. Campeau
- Valeria Capra
- Colleen Carlston
- Jenny Carmichael
- Anna Chassevent
- Jill Clayton-Smith
- Michael J. Bamshad
- Dawn L. Earl
- Laurence Faivre
- Christophe Philippe
- Patrick Ferrerira
- Luitgard Graul-Neumann
- Mary J. Green
- Darrah N. Haffner
- Parthiv Haldipur
- Suhair Hanna
- Gunnar Houge
- Jane A. Hurst
- Cornelia Kraus
- Birgit Elisabeth Kristiansen
- James Lespinasse
- Karen J. Low
- Sally Ann Lynch
- Sofia Maia
- Rong Mao
- Ruta Marcinkute
- Catherine Ward Melver
- Kimberly McDonald
- Tara Montgomery
- Manuela Morleo
- Constance Motter
- Amanda Openshaw
- Janice C. Palumbos
- Aditi Shah Parikh
- Richard Person
- Megha Desai
- Juliette Piard
- Rolph Pfundt
- Marcello Scala
- Margaux Serey-Gaut
- Anne Slavotinek
- Mohnish Suri
- Claire E. Turner
- Tatiana Tvrdik
- Karin Weiss
- Ingrid M. Wentzensen
- Marcella Zollino
- Telethon Undiagnosed Disease Program
- Bert B.A. de Vries
- François Guillemot
- William B. Dobyns
- David Viskochil
- Cristina Dias
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Citations (0) - 2021 Human Genetics
- Ilaria Parenti
- Daphné Lehalle
- Caroline Nava
- Erin Torti
- Elsa Leitão
- Richard Person
- Takeshi Mizuguchi
- Naomichi Matsumoto
- Mitsuhiro Kato
- Kazuyuki Nakamura
- Stella A. de Man
- Heidi Cope
- Vandana Shashi
- Jennifer Friedman
- Pascal Joset
- Katharina Steindl
- Anita Rauch
- Irena Muffels
- Peter M. van Hasselt
- Florence Petit
- Thomas Smol
- Gwenaël Le Guyader
- Frédéric Bilan
- Arthur Sorlin
- Antonio Vitobello
- Christophe Philippe
- Ingrid M.B.H. van de Laar
- Marjon van Slegtenhorst
- Philippe M. Campeau
- Ping-Yee Billie Au
- Mitsuko Nakashima
- Hirotomo Saitsu
- Tatsuya Yamamoto
- Yumiko Nomura
- Raymond J. Louie
- Michael J. Lyons
- Amy Dobson
- Astrid S. Plomp
- Mahdi M. Motazacker
- Frank J. Kaiser
- Andrew T. Timberlake
- Sabine A. Fuchs
- Christel Depienne
- Cyril Mignot
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Citations (2) - 2021 Nature Genetics
- Margot A. Cousin
- Blake A. Creighton
- Keith A. Breau
- Rebecca C. Spillmann
- Erin Torti
- Sruthi Dontu
- Swarnendu Tripathi
- Deepa Ajit
- Reginald James Edwards
- Simone Afriyie
- Julia C Bay
- Kathryn M. Harper
- Alvaro A. Beltran
- Lorena J. Munoz
- Liset Falcon Rodriguez
- Michael C. Stankewich
- Richard Person
- Yue Si
- Elizabeth A. Normand
- Amy Blevins
- Alison S. May
- Louise Bier
- Vimla Aggarwal
- Grazia M.S. Mancini
- Marjon van Slegtenhorst
- Kirsten Cremer
- Jessica Becker
- Hartmut Engels
- Stefan Aretz
- Jennifer MacKenzie
- Eva H. Brilstra
- Koen L.I. van Gassen
- Richard H. van Jaarsveld
- Renske Oegema
- Gretchen M. Parsons
- Paul R. Mark
- Ingo Helbig
- Sarah E. McKeown
- Robert Stratton
- Benjamin Cogné
- Bertrand Isidor
- Pilar Cacheiro
- Damian Smedley
- Helen V. Firth
- Tatjana Bierhals
- Katja Kloth
- Deike Weiss
- Cecilia Fairley
- Joseph T.C. Shieh
- Amy Kritzer
- Parul Jayakar
- Evangeline Kurtz-Nelson
- Raphael A. Bernier
- Tianyun Wang
- Evan E. Eichler
- Ingrid M.B.H. van de Laar
- Allyn McConkie Rosell
- Marie T. McDonald
- Jennifer L. Kemppainen
- Brendan C. Lanpher
- Laura Schultz-Rogers
- Lauren Gunderson
- Pavel N. Pichurin
- Grace Yoon
- Michael Zech
- Robert Jech
- Juliane Winkelmann
- Adriana S. Beltran
- Michael T. Zimmermann
- Brenda Temple
- Sheryl S. Moy
- Eric W. Klee
- Queenie K.-G. Tan
- Damaris N. Lorenzo
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Citations (4) -
- Dmitrijs Rots
- Eric Chater-Diehl
- Alexander J. M. Dingemans
- Sarah J. Goodman
- Michelle T. Siu
- Cheryl Cytrynbaum
- Sanaa Choufani
- Ny Hoang
- Susan Walker
- Zain Awamleh
- Joshua Charkow
- Stephen Meyn
- Rolph Pfundt
- Tuula Rinne
- Thatjana Gardeitchik
- Bert B.A. de Vries
- A. Chantal Deden
- Erika Leenders
- Michael P. Kwint
- Constance T. R. M. Stumpel
- Servi J. C. Stevens
- Jeroen R Vermeulen
- Jeske V.T. van Harssel
- Daniëlle G.M. Bosch
- Koen L.I. van Gassen
- Ellen van Binsbergen
- Christa de Geus
- Hein Brackel
- Maja Hempel
- Davor Lessel
- Jonas Denecke
- Anne Slavotinek
- Jonathan B. Strober
- Amy Crunk
- Leandra Folk
- Ingrid M. Wentzensen
- Hui Yang
- Fanggeng Zou
- Francisca Millan
- Richard Person
- Yili Xie
- Shuxi Liu
- Lilian Bomme Ousager
- Martin R. Larsen
- Laura Schultz-Rogers
- Eva Morava
- Eric W. Klee
- Ian R. Berry
- Jennifer Campbell
- Kristin Lindstrom
- Brianna Pruniski
- Ann M. Neumeyer
- Jessica A. Radley
- Chanika Phornphutkul
- Berkley Schmidt
- William G. Wilson
- Katrin Õunap
- Karit Reinson
- Sander Pajusalu
- Arie van Haeringen
- Claudia A. L. Ruivenkamp
- Roos Cuperus
- Fernando Santos-Simarro
- María Palomares-Bralo
- Marta Pacio Miguez
- Alyssa Ritter
- Elizabeth J. Bhoj
- Elin Tønne
- Kristian Tveten
- Gerarda Cappuccio
- Nicola Brunetti-Pierri
- Leah J. Rowe
- Jason Bunn
- Margarita Saenz
- Konrad Platzer
- Mareike Mertens
- Oana Caluseriu
- Małgorzata J.M. Nowaczyk
- Ronald D. Cohn
- Peter Kannu
- Ebba Alkhunaizi
- David Chitayat
- Stephen W. Scherer
- Han G. Brunner
- Lisenka E.L.M. Vissers
- Tjitske Kleefstra
- David A. Koolen
- Rosanna Weksberg
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Citations (1) - 2021 Genetics in Medicine
- Felix Marbach
- Georgi Stoyanov
- Florian Erger
- Constantine A. Stratakis
- Nikolaos Settas
- Edra London
- Jill A. Rosenfeld
- Erin Torti
- Chad R. Haldeman-Englert
- Evgenia Sklirou
- Elena Kessler
- Sophia Ceulemans
- Stanley F. Nelson
- Julian A. Martinez-Agosto
- Christina G.S. Palmer
- Rebecca Signer
- Marisa V. Andrews
- Dorothy K. Grange
- Rebecca Willaert
- Richard Person
- Aida Telegrafi
- Aaron Sievers
- Magdalena Laugsch
- Susanne Theiß
- YuZhu Cheng
- Olivier Lichtarge
- Panagiotis Katsonis
- Amber Stocco
- Christian P. Schaaf
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Citations (1) - 2021 Genetics in Medicine
- Daniel G. Calame
- Somayeh Bakhtiari
- Rachel Logan
- Zeynep Coban Akdemir
- Haowei Du
- Tadahiro Mitani
- Jawid M. Fatih
- Jill V. Hunter
- Isabella Herman
- Davut Pehlivan
- Shalini N. Jhangiani
- Richard Person
- Rhonda E. Schnur
- Sheng Chih Jin
- Kaya Bilguvar
- Jennifer E. Posey
- Sookyong Koh
- Saghar Ghasemi Firouzabadi
- Elham Alehabib
- Abbas Tafakhori
- Sahra Esmkhani
- Richard A. Gibbs
- Mahmoud M Noureldeen
- Maha S. Zaki
- Dana Marafi
- Hossein Darvish
- Michael C. Kruer
- James R. Lupski
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Citations (0) -
- Elodie Richard
- Somayeh Bakhtiari
- Ashley P.L. Marsh
- Rauan Kaiyrzhanov
- Matias Wagner
- Sheetal Shetty
- Alex M. Pagnozzi
- Sandra M Nordlie
- Brandon S. Guida
- Patricia Cornejo
- Helen Magee
- James Liu
- Bethany Y Norton
- Richard Webster
- Lisa Worgan
- Hakon Hakonarson
- Jiankang Li
- Yiran Guo
- Mahim Jain
- Alyssa Blesson
- Lance H. Rodan
- Mary-Alice Abbott
- Anne M. Comi
- Julie S. Cohen
- Bader Alhaddad
- Thomas Meitinger
- Dominic Lenz
- Andreas Ziegler
- Urania Kotzaeridou
- Theresa Brunet
- Anna Chassevent
- Constance Smith-Hicks
- Joseph Ekstein
- Tzvi Weiden
- Andreas Hahn
- Nazira Zharkinbekova
- Peter D. Turnpenny
- Arianna Tucci
- Melissa Yelton
- Rita Horvath
- Serdal Güngör
- Semra Hiz
- Yavuz Oktay
- Hanns Lochmüller
- Marcella Zollino
- Manuela Morleo
- Giuseppe Marangi
- Vincenzo Nigro
- Annalaura Torella
- Michele Pinelli
- Simona Amenta
- Ralf A. Husain
- Benita Grossmann
- Marion Rapp
- Claudia Steen
- Iris Marquardt
- Mona Grimmel
- Ute Grasshoff
- G. Christoph Korenke
- Marta Owczarek-Lipska
- John Neidhardt
- Francesca Clementina Radio
- Cecilia Mancini
- Dianela Judith Claps Sepulveda
- Kirsty McWalter
- Amber Begtrup
- Amy Crunk
- Maria J. Guillen Sacoto
- Richard Person
- Rhonda E. Schnur
- Maria Margherita Mancardi
- Florian Kreuder
- Pasquale Striano
- Federico Zara
- Wendy K. Chung
- Warren A. Marks
- Clare L. van Eyk
- Dani L. Webber
- Mark A. Corbett
- Kelly Harper
- Jesia G. Berry
- Alastair H. MacLennan
- Jozef Gecz
- Marco Tartaglia
- Vincenzo Salpietro
- John Christodoulou
- Jan Kaslin
- Sergio Padilla-Lopez
- Kaya Bilguvar
- Alexander Münchau
- Zubair M. Ahmed
- Robert B. Hufnagel
- Michael C Fahey
- Reza Maroofian
- Henry Houlden
- Heinrich Sticht
- Shrikant Mane
- Aboulfazl Rad
- Barbara Vona
- Sheng Chih Jin
- Tobias B. Haack
- Christine Makowski
- Yoel Hirsch
- Saima Riazuddin
- Michael C. Kruer
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Citations (0) - 2021 Brain
- Yousra El Ghaleb
- Pauline E. Schneeberger
- Monica L. Fernández-Quintero
- Stefanie M. Geisler
- Simone Pelizzari
- Abeltje M. Polstra
- Johanna M. van Hagen
- Jonas Denecke
- Marta Campiglio
- Klaus R. Liedl
- Cathy A. Stevens
- Richard Person
- Stefan Rentas
- Eric D. Marsh
- Laura K. Conlin
- Petronel Tuluc
- Kerstin Kutsche
- Bernhard E. Flucher
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