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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 Annals of Neurology
- Anne Schänzer
- Melanie Achleitner
- Dietrich Trümbach
- Laurence Hubert
- Arnold Munnich
- Barbara Ahlemeyer
- Maha M. AlAbdulrahim
- Philipp A. Greif
- Sebastian Vosberg
- Blake Hummer
- René G. Feichtinger
- Johannes A. Mayr
- Saskia B. Wortmann
- Heidi Aichner
- Sabine Rudnik-Schöneborn
- Anna Ruiz
- Elisabeth Gabau
- Jacobo Perez Sanchez
- Sian Ellard
- Tessa Homfray
- Karen Stals
- Wolfgang Wurst
- Bernd A. Neubauer
- Till Acker
- Stefan K. Bohlander
- Cedric S. Asensio
- Claude Besmond
- Fowzan S. Alkuraya
- Moenaldeen D. AlSayed
- Andreas Hahn
- Axel Weber
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- Anne Gregor
- Tanja Meerbrei
- Thorsten Gerstner
- Annick Toutain
- Sally Ann Lynch
- Karen Stals
- Caroline Maxton
- Johannes R. Lemke
- John A. Bernat
- Hannah Bombei
- Nicola Foulds
- David Hunt
- Alma Kuechler
- Jasmin Beygo
- Petra Stöbe
- Arjan Bouman
- María Palomares-Bralo
- Fernando Santos-Simarro
- Sixto García-Miñaur
- Marta Pacio Miguez
- Bernt Popp
- Georgia Vasileiou
- Moritz Hebebrand
- André Reis
- Sarah Schuhmann
- Mandy Krumbiegel
- Natasha J. Brown
- Peter Sparber
- Lyusya Melikyan
- Liudmila Bessonova
- Tatiana Cherevatova
- Artem Sharkov
- N. V. Shcherbakova
- Tabib Dabir
- Usha Kini
- Eva M.C. Schwaibold
- Tobias B. Haack
- Marta Bertoli
- Sabine Hoffjan
- Ruth Falb
- Marwan Shinawi
- Heinrich Sticht
- Christiane Zweier
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Citations (2) - 2021 Genetics in Medicine
- Camille Tremblay-Laganière
- Reza Maroofian
- Thi-Tuyet-Mai Nguyen
- Ehsan Ghayoor Karimiani
- Salman Kirmani
- Fizza Akbar
- Shahnaz Ibrahim
- Bushra Afroze
- Mohammad Doosti
- Farah Ashrafzadeh
- Meisam Babaei
- Stephanie Efthymiou
- Marilena Christoforou
- Tipu Sultan
- Roger L. Ladda
- Heather M. McLaughlin
- Rebecca Truty
- Sonal Mahida
- Julie S. Cohen
- Kristin W. Barañano
- Fatima Y. Ismail
- Millan S. Patel
- Anna Lehman
- Andrew C. Edmondson
- Amanda Nagy
- Melissa A. Walker
- Saadet Mercimek-Andrews
- Yuta Maki
- Rani Sachdev
- Rebecca Macintosh
- Elizabeth E. Palmer
- Grazia M.S. Mancini
- Tahsin Stefan Barakat
- Robert Steinfeld
- Christina T. Rüsch
- Georg M. Stettner
- Matias Wagner
- Saskia B. Wortmann
- Usha Kini
- Angela F. Brady
- Karen Stals
- Naila Ismayilova
- Sian Ellard
- Danilo Bernardo
- Kimberly Nugent
- Scott D. McLean
- Stylianos E. Antonarakis
- Henry Houlden
- Taroh Kinoshita
- Philippe M. Campeau
- Yoshiko Murakami
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Citations (1) - 2021 Genome MedicineShow All
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Citations (5) - 2021 Genetics in Medicine
- Guy Helman
- Marisa I. Mendes
- Francesco Nicita
- Lama Darbelli
- Omar Sherbini
- Travis Moore
- Alexa Derksen
- Amy Pizzino
- Rosalba Carrozzo
- Alessandra Torraco
- Michela Catteruccia
- Chiara Aiello
- Paola Goffrini
- Sonia Figuccia
- Desirée E.C. Smith
- Kinga Hadzsiev
- Andreas Hahn
- Saskia Biskup
- Ines Brösse
- Urania Kotzaeridou
- Darja Gauck
- Theresa A. Grebe
- Frances Elmslie
- Karen Stals
- Rajat Gupta
- Enrico Bertini
- Isabelle Thiffault
- Ryan J. Taft
- Raphael Schiffmann
- Ulrich Brandl
- Tobias B. Haack
- Gajja S. Salomons
- Cas Simons
- Geneviève Bernard
- Marjo S. van der Knaap
- Adeline Vanderver
- Ralf A. Husain
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- Adam C Gunning
- Klaudia Strucinska
- Mikel Muñoz Oreja
- Andrew Parrish
- Richard Caswell
- Karen Stals
- Romina Durigon
- Karina Durlacher-Betzer
- Mitchell H. Cunningham
- Christopher M. Grochowski
- Julia Baptista
- Carolyn Tysoe
- Emma L. Baple
- Nayana Lahiri
- Tessa Homfray
- Ingrid Scurr
- Catherine Armstrong
- John Dean
- Uxoa Fernandez Pelayo
- Aleck W.E. Jones
- Robert W. Taylor
- Vinod K. Misra
- Wan Hee Yoon
- Caroline F. Wright
- James R. Lupski
- Antonella Spinazzola
- Tamar Harel
- Ian Holt
- Sian Ellard
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