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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) -
- Xénia Latypova
- Marie Vincent
- Alice Mollé
- Oluwadamilare A. Adebambo
- Cynthia Fourgeux
- Tahir N. Khan
- Alfonso Caro
- Mónica Roselló
- Carmen Orellana
- Dmitriy Niyazov
- Damien Lederer
- Marie Deprez
- Yline Capri
- Peter Kannu
- Anne-Claude Tabet
- Jonathan C. Levy
- Emmelien Aten
- Nicolette S. den Hollander
- Miranda Splitt
- Jagdeep S. Walia
- LaDonna Immken
- Pawel Stankiewicz
- Kirsty McWalter
- Sharon F. Suchy
- Raymond J. Louie
- Shannon Bell
- Roger E. Stevenson
- Justine Rousseau
- Catherine Willem
- Christelle Retière
- Xiang-Jiao Yang
- Philippe M. Campeau
- Francisco Martínez
- Jill A. Rosenfeld
- Cédric Le Caignec
- Sébastien Küry
- Sandra Mercier
- Kamran Moradkhani
- Solène Conrad
- Thomas Besnard
- Benjamin Cogné
- Nicholas Katsanis
- Stéphane Bézieau
- Jeremie Poschmann
- Erica E. Davis
- Bertrand Isidor
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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) -
- Michael M. Khayat
- Jianhong Hu
- Yunyun Jiang
- He Li
- Varuna Chander
- Moez Dawood
- Adam W. Hansen
- Shoudong Li
- Jennifer Friedman
- Laura A. Cross
- Emilia K. Bijlsma
- Claudia A. L. Ruivenkamp
- Francis H Sansbury
- Jeffrey W. Innis
- Jessica Omark O’Shea
- Qingchang Meng
- Jill A. Rosenfeld
- Kirsty McWalter
- Michael F. Wangler
- James R. Lupski
- Jennifer E. Posey
- David R. Murdock
- Richard A. Gibbs
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Citations (0) - 2021 Genome Medicine
- Ilaria Mannucci
- Nghi D. P. Dang
- Hannes Huber
- Jaclyn B. Murry
- Jeff Abramson
- Thorsten Althoff
- Siddharth Banka
- Gareth Baynam
- David Bearden
- Ana Beleza-Meireles
- Paul J. Benke
- Siren Berland
- Tatjana Bierhals
- Frédéric Bilan
- Laurence A. Bindoff
- Geir Julius Braathen
- Øyvind L. Busk
- Jirat Chenbhanich
- Jonas Denecke
- Luis F. Escobar
- Caroline Estes
- Julie Fleischer
- Daniel Groepper
- Charlotte A. Haaxma
- Maja Hempel
- Yolanda Holler-Managan
- Gunnar Houge
- Adam Jackson
- Laura Kellogg
- Boris Keren
- Catherine Kiraly-Borri
- Cornelia Kraus
- Christian Kubisch
- Gwenael Le Guyader
- Ulf W. Ljungblad
- Leslie Manace Brenman
- Julian A. Martinez-Agosto
- Matthew Might
- David T. Miller
- Kelly Q. Minks
- Billur Moghaddam
- Caroline Nava
- Stanley F. Nelson
- John M. Parant
- Trine Prescott
- Farrah Rajabi
- Hanitra Randrianaivo
- Simone F Reiter
- Janneke H. M. Schuurs-Hoeijmakers
- Perry B. Shieh
- Anne Slavotinek
- Sarah F. Smithson
- Alexander P. A. Stegmann
- Kinga K. Tomczak
- Kristian Tveten
- Jun Wang
- Jordan H. Whitlock
- Christiane Zweier
- Kirsty McWalter
- Jane Juusola
- Fabiola Quintero-Rivera
- Utz Fischer
- Nan Cher Yeo
- Hans Jürgen Kreienkamp
- Davor Lessel
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Citations (3) - 2021 Annals of Neurology
- Egidio Spinelli
- Kyle R. Christensen
- Emily Bryant
- Amy L. Schneider
- Jennifer Rakotomamonjy
- Alison M. Muir
- Jessica Giannelli
- Rebecca O. Littlejohn
- Elizabeth Roeder
- Berkley Schmidt
- William G. Wilson
- Elysa J. Marco
- Kazuhiro Iwama
- Satoko Kumada
- Tiziana Pisano
- Carmen Barba
- Annalisa Vetro
- Eva H. Brilstra
- Richard H. van Jaarsveld
- Naomichi Matsumoto
- Hadassa Goldberg-Stern
- Patrick W. Carney
- P. Ian Andrews
- Christelle Moufawad El Achkar
- Samuel F. Berkovic
- Lance H. Rodan
- Kirsty McWalter
- Renzo Guerrini
- Ingrid Eileen Scheffer
- Heather C. Mefford
- Simone Mandelstam
- Linda Laux
- John Millichap
- Alicia Guemez-Gamboa
- Angus C. Nairn
- Carvill Gl
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- 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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- Bradley S. Bowles
- Alejandro Ferrer
- Carla Nishimura
- Filippo Vairo
- Tristan Rey
- Bruno Leheup
- Jennifer A. Sullivan
- Kelly Schoch
- Nicholas Stong
- Emanuele Agolini
- Dario Cocciadiferro
- Abigail Williams
- Alex Cummings
- Sara Loddo
- Silvia Genovese
- Chelsea Roadhouse
- Kirsty McWalter
- Ingrid M. Wentzensen
- Chumei Li
- Dusica Babovic-Vuksanovic
- Brendan C. Lanpher
- Maria Lisa Dentici
- Arun Ankala
- J. Austin Hamm
- Bruno Dallapiccola
- Francesca Clementina Radio
- Vandana Shashi
- Bénédicte Gérard
- Agnès Bloch-Zupan
- Richard J. H. Smith
- Eric W. Klee
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Citations (1) -
- Silvia Kalantari
- Colleen Carlston
- Norah Alsaleh
- Ghada M.H. Abdel-Salam
- Fowzan S. Alkuraya
- Mitsuhiro Kato
- Naomichi Matsumoto
- Satoko Miyatake
- Tatsuya Yamamoto
- Lucas Fares-Taie
- Jean-Michel Rozet
- Nicolas Chassaing
- Catherine Vincent-Delorme
- Anjeung Kang Bellin
- Kirsty McWalter
- Caleb Bupp
- Emily Palen
- Monisa D. Wagner
- Marcello Niceta
- Claudia Cesario
- Roberta Milone
- Julie D. Kaplan
- Erin Wadman
- William B. Dobyns
- Isabel Filges
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