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- Jill A. Rosenfeld
- Rui Xiao
- Mir Reza Bekheirnia
- Farah Kanani
- Michael Parker
- Mary Kay Koenig
- Arie van Haeringen
- Claudia A. L. Ruivenkamp
- Joana Rosmaninho-Salgado
- Pedro M Almeida
- Joaquim Sá
- Jorge Pinto-Basto
- Emily Palen
- Kathryn F Oetjens
- Lindsay C. Burrage
- Fan Xia
- Pengfei Liu
- Christine M. Eng
- Yaping Yang
- Jennifer E. Posey
- Brendan Lee
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Citations (0) - 2021 Case Reports
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Citations (0) - 2020 Human Mutation
- Gemma L. Carvill
- Katherine L. Helbig
- Candace T. Myers
- Marcello Scala
- Robert Huether
- Sara Lewis
- Tyler N. Kruer
- Brandon S. Guida
- Somayeh Bakhtiari
- Joy Y. Sebe
- Sha Tang
- Heather Stickney
- Sehribani Ulusoy Oktay
- Ashwin A. Bhandiwad
- Keri Ramsey
- Vinodh Narayanan
- Timothy Feyma
- Luis O. Rohena
- Andrea Accogli
- Mariasavina Severino
- Georgina Hollingsworth
- Deepak Gill
- Christel Depienne
- Caroline Nava
- Lynette G. Sadleir
- Paul A. Caruso
- Angela E. Lin
- Floor E. Jansen
- Bobby P. C. Koeleman
- Eva H. Brilstra
- Marjolein H. Willemsen
- Tjitske Kleefstra
- Joaquim Sá
- Marie-Laure Mathieu
- Laurine Perrin
- Gaetan Lesca
- Pasquale Striano
- Giorgio Casari
- Ingrid E. Scheffer
- David W. Raible
- Evelyn Sattlegger
- Valeria Capra
- Sergio Padilla-Lopez
- Heather C. Mefford
- Michael C. Kruer
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Citations (7) - 2020 Genetics in Medicine
- Gerarda Cappuccio
- Camille Sayou
- Pauline Le Tanno
- Emilie Tisserant
- Ange-Line Bruel
- Sara El Kennani
- Joaquim Sá
- Karen J. Low
- Cristina Dias
- Marketa Havlovicova
- Miroslava Hancarova
- Evan E. Eichler
- Francoise Devillard
- Sébastien Moutton
- Julien Van-Gils
- Christèle Dubourg
- Sylvie Odent
- Bénédicte Gérard
- Amélie Piton
- Toshiyuki Yamamoto
- Nobuhiko Okamoto
- Helen V. Firth
- Kay Metcalfe
- Anna Moh
- Kimberly A. Chapman
- Erfan Aref-Eshghi
- Jennifer Kerkhof
- Annalaura Torella
- Vincenzo Nigro
- Laurence Perrin
- Juliette Piard
- Gwenael Le Guyader
- Thibaud Jouan
- Christel Thauvin-Robinet
- Yannis Duffourd
- Jaya K. George-Abraham
- Catherine A. Buchanan
- Denise Williams
- Usha Kini
- K S Wilson
- Sérgio B. Sousa
- Raoul C. M. Hennekam
- Bekim Sadikovic
- Julien Thevenon
- Jérôme Govin
- Antonio Vitobello
- Nicola Brunetti-Pierri
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Citations (13) -
- Brett V. Johnson
- Raman Kumar
- Sabrina Oishi
- Suzy Alexander
- Maria Kasherman
- Michelle C. Sanchez Vega
- Atma M. Ivancevic
- Alison Gardner
- Deepti Domingo
- Mark A. Corbett
- Euan Parnell
- Sehyoun Yoon
- Tracey Oh
- Matthew A. Lines
- Henrietta Lefroy
- Usha Kini
- Margot I. Van Allen
- Sabine Grønborg
- Sandra Mercier
- Sébastien Küry
- Stéphane Bézieau
- Laurent Pasquier
- Martine Raynaud
- Alexandra Afenjar
- Thierry Billette de Villemeur
- Boris Keren
- Julie Désir
- Lionel Van Maldergem
- Martina Marangoni
- Nicola Dikow
- David A. Koolen
- Peter M. VanHasselt
- Marjan M. Weiss
- Petra Zwijnenburg
- Joaquim Sá
- Claudia Falcao Reis
- Carlos López-Otín
- Olaya Santiago-Fernández
- Alberto Fernández-Jaén
- Anita Rauch
- Katharina Steindl
- Pascal Joset
- Amy Goldstein
- Suneeta Madan-Khetarpal
- Elena Infante
- Elaine H. Zackai
- Carey McDougall
- Vinodh Narayanan
- Keri Ramsey
- Saadet Mercimek-Andrews
- Loren Peña
- Vandana Shashi
- Kelly Schoch
- Jennifer A. Sullivan
- Maria T. Acosta
- David R. Adams
- Aaron Aday
- Mercedes E. Alejandro
- Patrick Allard
- Euan A. Ashley
- Mahshid S. Azamian
- Carlos A. Bacino
- Guney Bademci
- Eva Baker
- Ashok Balasubramanyam
- Dustin Baldridge
- Deborah Barbouth
- Gabriel F. Batzli
- Alan H. Beggs
- Hugo J. Bellen
- Jonathan A. Bernstein
- Gerard T. Berry
- Anna Bican
- David P. Bick
- Camille L. Birch
- Stephanie Bivona
- Carsten Bonnenmann
- Devon Bonner
- Braden E. Boone
- Bret L. Bostwick
- Lauren C. Briere
- Elly Brokamp
- Donna M. Brown
- Matthew Brush
- Elizabeth A. Burke
- Lindsay C. Burrage
- Manish J. Butte
- Olveen Carrasquillo
- Ta Chen Peter Chang
- Hsiao-Tuan Chao
- Gary D. Clark
- Terra R. Coakley
- Laurel A. Cobban
- Joy D. Cogan
- F. Sessions Cole
- Heather A. Colley
- Cynthia M. Cooper
- Heidi Cope
- William J. Craigen
- Precilla D’Souza
- Surendra Dasari
- Mariska Davids
- Jean M. Davidson
- Jyoti G. Dayal
- Esteban C. Dell’Angelica
- Shweta U. Dhar
- Naghmeh Dorrani
- Daniel C. Dorset
- Emilie D. Douine
- David D. Draper
- Annika M. Dries
- Laura Duncan
- David J. Eckstein
- Lisa T. Emrick
- Christine M. Eng
- Gregory M. Enns
- Cecilia Esteves
- Tyra Estwick
- Liliana Fernández
- Carlos R. Ferreira
- Elizabeth L. Fieg
- Paul G. Fisher
- Brent L. Fogel
- Irman Forghani
- Noah D. Friedman
- William A. Gahl
- Rena A. Godfrey
- Alica M. Goldman
- David Goldstein
- Jean-Philippe F. Gourdine
- Alana Grajewski
- Catherine Groden
- Andrea L. Gropman
- Melissa Haendel
- Rizwan Hamid
- Neil A. Hanchard
- Frances A. High
- Ingrid A. Holm
- Jason Hom
- Alden Y. Huang
- Yong Huang
- Rosario Isasi
- Fariha Jamal
- Yong-hui Jiang
- Jean M. Johnston
- Angela L. Jones
- Lefkothea P. Karaviti
- Emily G. Kelley
- David M. Koeller
- Isaac S. Kohane
- Jennefer N. Kohler
- Deborah Krakow
- Donna M. Krasnewich
- Susan Korrick
- Mary Koziura
- Joel B. Krier
- Jennifer E. Kyle
- Seema R. Lalani
- Byron L. Lam
- Brendan C Lanpher
- Ian R. Lanza
- C. Christopher Lau
- Jozef Lazar
- Kimberly H. LeBlanc
- Brendan Lee
- Hane Lee
- Roy C. Levitt
- Shawn Levy
- Richard A. Lewis
- Sharyn A. Lincoln
- Pengfei Liu
- Xue Zhong Liu
- Sandra K. Loo
- Joseph Loscalzo
- Richard L. Maas
- Ellen F. Macnamara
- Calum A. MacRae
- Valerie Maduro
- Marta M. Majcherska
- May Christine V. Malicdan
- Laura A. Mamounas
- Teri A. Manolio
- Thomas C. Markello
- Ronit Marom
- Martin G. Martin
- Julian A. Martinez-Agosto
- Shruti Marwaha
- Thomas May
- Jacob L. McCauley
- Allyn McConkie Rosell
- Colleen E. McCormack
- Alexa T. McCray
- Jason D. Merker
- Thomas O. Metz
- Matthew Might
- Eva Morava-Kozicz
- Paolo Moretti
- Marie Morimoto
- John J. Mulvihill
- David R. Murdock
- Avi Nath
- Stan F. Nelson
- J. Scott Newberry
- John H. Newman
- Sarah K. Nicholas
- Donna Novacic
- Devin Oglesbee
- James P. Orengo
- Stephen C. Pak
- J. Carl Pallais
- Christina G.S. Palmer
- Jeanette C. Papp
- Neil H. Parker
- John A. Phillips
- Jennifer E. Posey
- John H. Postlethwait
- Lorraine Potocki
- Barbara N. Pusey
- Genecee Renteri
- Chloe M. Reuter
- Lynette Rives
- Amy K. Robertson
- Lance H. Rodan
- Jill A. Rosenfeld
- Robb K. Rowley
- Ralph Sacco
- Jacinda B. Sampson
- Susan L. Samson
- Mario Saporta
- Judy Schaechter
- Tim Schedl
- Daryl A. Scott
- Lisa Shakachite
- Prashant Sharma
- Kathleen Shields
- Jimann Shin
- Rebecca Signer
- Catherine H. Sillari
- Edwin K. Silverman
- Janet S. Sinsheimer
- Kevin S. Smith
- Lilianna Solnica-Krezel
- Rebecca C. Spillmann
- Joan M. Stoler
- Nicholas Stong
- David A. Sweetser
- Cecelia P. Tamburro
- Queenie K.-G. Tan
- Mustafa Tekin
- Fred Telischi
- Willa Thorson
- Cynthia J. Tifft
- Camilo Toro
- Alyssa A. Tran
- Tiina K. Urv
- Tiphanie P. Vogel
- Daryl Waggott
- Colleen E. Wahl
- Nicole M. Walley
- Christopher A. Walsh
- Melissa Walker
- Jennifer A. Wambach
- Jijun Wan
- Lee-kai Wang
- Michael F. Wangler
- Patricia A. Ward
- Katrina M. Waters
- Bobbie-Jo M. Webb Robertson
- Daniel J. Wegner
- Monte Westerfield
- Matthew T. Wheeler
- Anastasia L. Wise
- Lynne A. Wolfe
- Jeremy D. Woods
- Elizabeth A. Worthey
- Shinya Yamamoto
- John Yang
- Amanda J. Yoon
- Guoyun Yu
- Diane B. Zastrow
- Chunli Zhao
- Stephan Züchner
- William Gahl
- Filippo Pinto e Vairo
- Pavel N. Pichurin
- Sarah Ewing
- Sarah S. Barnett
- Eric W. Klee
- M. Scott Perry
- Mary Kay Koenig
- Catherine E. Keegan
- Jane L. Schuette
- Stephanie B. Asher
- Yezmin Perilla-Young
- Laurie D. Smith
- Elizabeth J. Bhoj
- Paige Kaplan
- Dong Li
- Renske Oegema
- Ellen van Binsbergen
- Bert van der Zwaag
- Marie Falkenberg Smeland
- Ioana Cutcutache
- Matthew Page
- Martin Armstrong
- Angela E. Lin
- Marcie A. Steeves
- Nicolette S. den Hollander
- Mariëtte J.V. Hoffer
- Margot R.F. Reijnders
- Serwet Demirdas
- Daniel C. Koboldt
- Dennis Bartholomew
- Theresa Mihalic Mosher
- Scott E. Hickey
- Christine Shieh
- Pedro A. Sanchez-Lara
- John M. Graham
- Kamer Tezcan
- G. B. Schaefer
- Noelle R. Danylchuk
- Alexander Asamoah
- Kelly E. Jackson
- Naomi Yachelevich
- Margaret Au
- Luis A. Pérez Jurado
- Tjitske Kleefstra
- Peter Penzes
- Stephen A. Wood
- Thomas H. J. Burne
- Tyler Mark Pierson
- Michael Piper
- Jozef Gecz
- Lachlan A. Jolly
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Citations (20) -
- Fátima Lopes
- Fátima Torres
- Gabriela Soares
- Mafalda Barbosa
- João Rocha da Silva
- Frederico Duque
- Miguel Rocha
- Joaquim Sá
- Guiomar Oliveira
- Maria João Sá
- Teresa Temudo
- Susana Palma de Sousa
- Carla Marques
- Sofia Oliveira Lopes
- Catarina Gomes
- Gisela Barros
- Arminda Jorge
- Felisbela Rocha
- Cecília Martins
- Sandra Mesquita
- Susana Loureiro
- Elisa Cardoso
- Maria José Cálix
- Andreia Dias
- C. Martins
- Céu R. Mota
- Diana Antunes
- Juliette Dupont
- Sara Figueiredo
- Sónia Figueiroa
- Susana Gama de Sousa
- Sara Cruz
- Adriana Sampaio
- Paul P. Eijk
- Marjan M. Weiss
- Bauke Ylstra
- Paula Rendeiro
- Purificação Tavares
- M. Reis-Lima
- Jorge Pinto-Basto
- Ana Maria Fortuna
- Patrícia Maciel
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- Marta P. Soares
- Márcia Rodrigues
- Juliette Dupont
- Ana Medeira
- João Freixo
- Sofia Nunes
- Isabel Cordeiro
- André M. Travessa
- Gabriela Soares
- Ana Maria Fortuna
- Fabiana Ramos
- Joaquim Sá
- Susana Rocha
- Cristina Figueiredo
- Carla Mendonça
- Fernando Tapadinhas
- Rosário Silveira-Santos
- Sónia Custódio
- Ana Barreta
- Silvia Serafim
- Hildeberto Correia
- Mariana Val
- Isabel M. Carreira
- Paula Rendeiro
- Ana Sousa
- Ana Berta Sousa
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