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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 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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- 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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