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- Francesca Clementina Radio
- Kaifang Pang
- Andrea Ciolfi
- Michael A. Levy
- Andrés Hernández-García
- Lucia Pedace
- Francesca Pantaleoni
- Zhandong Liu
- Elke de Boer
- Adam Jackson
- Alessandro Bruselles
- Haley McConkey
- Emilia Stellacci
- Stefania Lo Cicero
- Marialetizia Motta
- Rosalba Carrozzo
- Maria Lisa Dentici
- Kirsty McWalter
- Megha Desai
- Kristin G. Monaghan
- Aida Telegrafi
- Christophe Philippe
- Antonio Vitobello
- Margaret Au
- Katheryn Grand
- Pedro A. Sanchez-Lara
- Joanne Baez
- Kristin Lindstrom
- Peggy Kulch
- Jessica Sebastian
- Suneeta Madan-Khetarpal
- Chelsea Roadhouse
- Jennifer MacKenzie
- Berrin Monteleone
- Carol J. Saunders
- July K. Jean Cuevas
- Laura A. Cross
- Dihong Zhou
- Taila Hartley
- Sarah L. Sawyer
- Fabíola Paoli Monteiro
- Tania Vertemati Secches
- Fernando Kok
- Laura Schultz-Rogers
- Erica L. Macke
- Eva Morava
- Eric W. Klee
- Jennifer L. Kemppainen
- Maria Iascone
- Angelo Selicorni
- Romano Tenconi
- David J. Amor
- Lynn Pais
- Lyndon Gallacher
- Peter D. Turnpenny
- Karen Stals
- Sian Ellard
- Sara Cabet
- Gaetan Lesca
- Joset Pascal
- Katharina Steindl
- Sarit Ravid
- Karin Weiss
- Alison M.R. Castle
- Melissa T. Carter
- Louisa Kalsner
- Bert B.A. de Vries
- Bregje W.M. van Bon
- Marijke R. Wevers
- Rolph Pfundt
- Alexander P. A. Stegmann
- Bronwyn Kerr
- Helen Kingston
- Kate Chandler
- Willow Sheehan
- Abdallah F. Elias
- Deepali N. Shinde
- Meghan C. Towne
- Nathaniel H. Robin
- Dana H Goodloe
- Adeline Vanderver
- Omar Sherbini
- Krista Bluske
- R. Tanner Hagelstrom
- Caterina Zanus
- Flavio Faletra
- Luciana Musante
- Evangeline C. Kurtz-Nelson
- Rachel K. Earl
- Britt-Marie Anderlid
- Gilles Morin
- Marjon van Slegtenhorst
- Karin E. M. Diderich
- Alice S. Brooks
- Joost Gribnau
- Ruben Boers
- Teresa Robert Finestra
- Lauren Carter
- Anita Rauch
- Paolo Gasparini
- Kym M. Boycott
- Tahsin Stefan Barakat
- John M. Graham
- Laurence Faivre
- Siddharth Banka
- Tianyun Wang
- Evan E. Eichler
- Manuela Priolo
- Bruno Dallapiccola
- Lisenka E.L.M. Vissers
- Bekim Sadikovic
- Daryl A. Scott
- Jimmy Lloyd Holder
- Marco Tartaglia
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Citations (13) - 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 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 Human Mutation
- Geeske M. van Woerden
- Melanie Bos
- Charlotte de Konink
- Ben Distel
- Rossella Avagliano Trezza
- Natasha Shur
- Kristin W. Barañano
- Sonal Mahida
- Anna Chassevent
- Allison Schreiber
- Angelika Erwin
- Karen W. Gripp
- Fatima Rehman
- Saskia Brulleman
- Róisín McCormack
- Gwynna de Geus
- Louisa Kalsner
- Arthur Sorlin
- Ange Line Bruel
- David A. Koolen
- Melissa K. Gabriel
- Mari Rossi
- David Fitzpatrick
- Andrew O.M. Wilkie
- Eduardo Calpena
- David Johnson
- Alice S. Brooks
- Marjon van Slegtenhorst
- Julie Fleischer
- Daniel Groepper
- Kristin Lindstrom
- A. Micheil Innes
- Allison Goodwin
- Jennifer B. Humberson
- Amanda Noyes
- Katherine G. Langley
- Aida Telegrafi
- Amy Blevins
- Jessica Hoffman
- Maria J. Guillen Sacoto
- Jane Juusola
- Kristin G. Monaghan
- Sumit Punj
- Marleen Simon
- Rolph Pfundt
- Ype Elgersma
- Tjitske Kleefstra
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Citations (3) -
- William Burns
- Lynne M. Bird
- Delphine Héron
- Boris Keren
- Divya Ramachandra
- Isabelle Thiffault
- Florencia Del Viso
- Shivarajan Manickavasagam Amudhavalli
- Kendra Engleman
- Ilaria Parenti
- Frank J. Kaiser
- Jolanta Wierzba
- Korbinian M. Riedhammer
- Susanne Liptay
- Neda Zadeh
- Joseph Porrmann
- Andrea Fischer
- Sophie Gößwein
- Heather M. McLaughlin
- Aida Telegrafi
- Katherine G. Langley
- Richard Steet
- Raymond J. Louie
- Michael J. Lyons
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Citations (1) -
- Davor Lessel
- Daniela M. Zeitler
- Margot R.F. Reijnders
- Andriy Kazantsev
- Fatemeh Hassani Nia
- Alexander Bartholomäus
- Victoria Martens
- Astrid Bruckmann
- Veronika Graus
- Allyn McConkie Rosell
- Marie McDonald
- Bernarda Lozić
- Ee Shien Tan
- Erica H. Gerkes
- Jessika Johannsen
- Jonas Denecke
- Aida Telegrafi
- Evelien Zonneveld-Huijssoon
- Henny H. Lemmink
- Breana Cham
- Tanja Kovacevic
- Linda Ramsdell
- Kimberly Foss
- Diana Le Duc
- Diana Mitter
- Steffen Syrbe
- Andreas Merkenschlager
- Margje Sinnema
- Bianca Panis
- Joanna Lazier
- Matthew Osmond
- Taila Hartley
- Jérémie Mortreux
- Tiffany Busa
- Chantal Missirian
- Pankaj Prasun
- Sabine Lüttgen
- Ilaria Mannucci
- Ivana Lessel
- Claudia Schob
- Stefan Kindler
- John G. Pappas
- Rachel Rabin
- Marjolein H. Willemsen
- Thatjana Gardeitchik
- Katharina Löhner
- Patrick Rump
- Kerith-Rae Dias
- Carey-Anne Evans
- Peter Ian Andrews
- Tony Roscioli
- Han G. Brunner
- Chieko Chijiwa
- M. E. Suzanne Lewis
- Rami Abou Jamra
- David A. Dyment
- Kym M. Boycott
- Alexander P. A. Stegmann
- Christian Kubisch
- Ene-Choo Tan
- Ghayda M. Mirzaa
- Kirsty McWalter
- Tjitske Kleefstra
- Rolph Pfundt
- Zoya Ignatova
- Gunter Meister
- Hans Jürgen Kreienkamp
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Citations (8) - 2020 Lancet Neurology
- Michael Zech
- Robert Jech
- Sylvia Boesch
- Matej Skorvanek
- Sandrina Weber
- Matias Wagner
- Chen Zhao
- Angela Jochim
- Ján Necpál
- Yasemin Dincer
- Katharina Vill
- Felix Distelmaier
- Malgorzata Stoklosa
- Martin Krenn
- Stephan Grunwald
- Tobias Bock-Bierbaum
- Anna Fečíková
- Petra Havránková
- Jan Roth
- Iva Prihodova
- Miriam Adamovicová
- Olga Ulmanová
- Karel Bechyne
- Pavlína Danhofer
- Branislav Veselý
- Vladimír Haň
- Petra Pavelekova
- Zuzana Gdovinova
- Tobias Mantel
- Tobias Meindl
- Alexandra Sitzberger
- Sebastian Schröder
- Astrid Blaschek
- Timo Roser
- Michaela V Bonfert
- Edda Haberlandt
- Barbara Plecko
- Birgit Leineweber
- Steffen Berweck
- Thomas Herberhold
- Berthold Langguth
- Jana Švantnerová
- Michal Minár
- Gonzalo Alonso Ramos-Rivera
- Monica H. Wojcik
- Sander Pajusalu
- Katrin Õunap
- Ulrich A. Schatz
- Laura Pölsler
- Ivan Milenkovic
- Franco Laccone
- Veronika Pilshofer
- Roberto Colombo
- Steffi Patzer
- Arcangela Iuso
- Julia Vera
- M. Troncoso
- Fang Fang
- Holger Prokisch
- Friederike Wilbert
- Matthias Eckenweiler
- Elisabeth Graf
- Dominik S. Westphal
- Korbinian M. Riedhammer
- Theresa Brunet
- Bader Alhaddad
- Riccardo Berutti
- Tim M. Strom
- Martin Hecht
- Matthias Baumann
- Marc E. Wolf
- Aida Telegrafi
- Richard Person
- Francisca Millan Zamora
- Lindsay B. Henderson
- David Weise
- Thomas Musacchio
- Jens Volkmann
- Anna Szuto
- Jessica Becker
- Kirsten Cremer
- Thomas Sycha
- Fritz Zimprich
- V. Kraus
- Christine Makowski
- Pedro Gonzalez-Alegre
- Tanya M. Bardakjian
- Laurie J. Ozelius
- Annalisa Vetro
- Renzo Guerrini
- Esther Maier
- Ingo Borggraefe
- Alice Kuster
- Saskia B. Wortmann
- Annette Hackenberg
- Robert Steinfeld
- Birgit Assmann
- Christian Staufner
- Thomas Opladen
- Evžen Růžička
- Ronald D. Cohn
- David A. Dyment
- Wendy K. Chung
- Hartmut Engels
- Andres Ceballos-Baumann
- Rafał Płoski
- Oliver Daumke
- Bernhard Haslinger
- Volker Mall
- Konrad Oexle
- Juliane Winkelmann
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Citations (33) -
- Holger Hengel
- Célia Bosso-Lefèvre
- George Grady
- Emmanuelle Szenker-Ravi
- Hankun Li
- Sarah B. Pierce
- Elise Lebigot
- Thong Teck Tan
- Michelle Eio
- Gunaseelan Narayanan
- Kagistia Hana Utami
- Monica Yau
- Nader Handal
- Werner Deigendesch
- Reinhard Keimer
- Hiyam M. Marzouqa
- Meral Gunay-Aygun
- Michael Muriello
- Helene Verhelst
- Sarah Weckhuysen
- Sonal Mahida
- Sakkubai Naidu
- Terrence Thomas
- Jiin Ying Lim
- Ee Shien Tan
- Damien Haye
- Michèl A.A.P. Willemsen
- Renske Oegema
- Wendy G. Mitchell
- Tyler Mark Pierson
- Marisa V. Andrews
- Marcia C. Willing
- Lance H. Rodan
- Tahsin Stefan Barakat
- Marjon van Slegtenhorst
- Ralitza H. Gavrilova
- Diego Martinelli
- Tal Gilboa
- Abdullah M. Tamim
- Mais O. Hashem
- Moeenaldeen D. AlSayed
- Maha M. Abdulrahim
- Mohammed Al-Owain
- Ali Awaji
- Adel A.H. Mahmoud
- Eissa Faqeih
- Ali Al Asmari
- Sulwan M. Algain
- Lamyaa A. Jad
- Hesham M. Aldhalaan
- Ingo Helbig
- David A. Koolen
- Angelika Riess
- I. Kraegeloh-Mann
- Peter Bauer
- Suleyman Gulsuner
- Hannah Stamberger
- Alvin Yu Jin Ng
- Sha Tang
- Sumanty Tohari
- Boris Keren
- Laura E. Schultz-Rogers
- Eric W. Klee
- Sabina Barresi
- Marco Tartaglia
- Hagar Mor-Shaked
- Sateesh Maddirevula
- Amber Begtrup
- Aida Telegrafi
- Rolph Pfundt
- Rebecca Schüle
- Brian Ciruna
- Carine Bonnard
- Mahmoud A. Pouladi
- James C. Stewart
- Adam Claridge-Chang
- Dirk J. Lefeber
- Fowzan S. Alkuraya
- Ajay S. Mathuru
- Byrappa Venkatesh
- Joseph J. Barycki
- Melanie A. Simpson
- Saumya S. Jamuar
- Ludger Schöls
- Bruno Reversade
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Citations (18) - 2020 medRxiv
- Felix Marbach
- Georgi Stoyanov
- Florian Erger
- 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
- Olivier Lichtarge
- Panagiotis Katsonis
- Amber Stocco
- Christian P. Schaaf
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Citations (1) -
- Yu-Ri Lee
- Kamal Khan
- Kim Armfield Uhas
- Sujata Srikanth
- Nicola Thompson
- Mercedes Pardo
- Lu Yu
- Joy Norris
- Yunhui Peng
- Karen W. Gripp
- Kirk Aleck
- Chumei Li
- Ed Spence
- Tae-Ik Choi
- Soo Jeong Kwon
- Hee Moon Park
- Daseuli Yu
- Won Do Heo
- Marie R. Mooney
- Shahid Mahmood Baig
- Ingrid M. Wentzensen
- Aida Telegrafi
- Kirsty McWalter
- Trevor Moreland
- Chelsea Roadhouse
- Keri Ramsey
- Michael J. Lyons
- Cindy Skinner
- Emil Alexov
- Nicholas Katsanis
- Roger E. Stevenson
- Jyoti S. Choudhary
- David J. Adams
- Cheol-Hee Kim
- Erica E. Davis
- Charles E. Schwartz
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