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- Justyna A. Karolak
- Marie Vincent
- Gail H. Deutsch
- Tomasz Gambin
- Benjamin Cogné
- Olivier Pichon
- Francesco Vetrini
- Heather C. Mefford
- Jennifer N. Dines
- Katie Golden-Grant
- Katrina M. Dipple
- Amanda S. Freed
- Kathleen A. Leppig
- Megan K. Dishop
- David Mowat
- Bruce Bennetts
- Andrew J. Gifford
- Ma Weber
- Anna F. Lee
- Cornelius F. Boerkoel
- Tina M. Bartell
- Catherine Ward Melver
- Thomas Besnard
- Florence Petit
- Iben Bache
- Zeynep Tümer
- Marie Denis-Musquer
- Madeleine Joubert
- Jelena Martinovic
- Claire Bénéteau
- Arnaud Molin
- Dominique Carles
- Gwenaelle Andre
- Eric Bieth
- Nicolas Chassaing
- Louise Devisme
- Lara Chalabreysse
- Laurent Pasquier
- Véronique Secq
- Massimiliano Don
- Maria Orsaria
- Chantal Missirian
- Jérémie Mortreux
- Damien Sanlaville
- Linda Pons
- Sébastien Küry
- Stéphane Bézieau
- Jean-Michel Liet
- Nicolas Joram
- Tiphaine Bihouée
- Daryl A. Scott
- Chester W. Brown
- Fernando Scaglia
- Anne Chun-Hui Tsai
- Dorothy K. Grange
- John A. Phillips rd
- Jean P. Pfotenhauer
- Shalini N. Jhangiani
- Claudia Gonzaga-Jauregui
- Wendy K. Chung
- Galen M. Schauer
- Mark Lipson
- Catherine L. Mercer
- Arie van Haeringen
- Qian Liu
- Edwina J. Popek
- Zeynep Coban Akdemir
- James R. Lupski
- Przemyslaw Szafranski
- Bertrand Isidor
- Cédric Le Caignec
- Pawel Stankiewicz
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Citations (50) - 2019 Genetics in Medicine
- Jennifer N. Dines
- Katie Golden-Grant
- Amy LaCroix
- Alison M. Muir
- Dianne Laboy Cintrón
- Kirsty McWalter
- Megan T. Cho
- Angela Sun
- J. Lawrence Merritt
- Jenny Thies
- Dmitriy Niyazov
- Barbara K. Burton
- Katherine H Kim
- Leah Fleming
- Rachel Westman
- Peter I. Karachunski
- Joline Dalton
- Alice Basinger
- Can Ficicioglu
- Ingo Helbig
- Manuela Pendziwiat
- Hiltrud Muhle
- Katherine L. Helbig
- Almuth Caliebe
- René Santer
- Kolja Becker
- Sharon Suchy
- Ganka Douglas
- Francisca Millan
- Amber Begtrup
- Kristin G. Monaghan
- Heather C. Mefford
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Citations (17) - 2018 bioRxiv
- Paul C. Marcogliese
- Vandana Shashi
- Rebecca C. Spillmann
- Nicholas Stong
- Jill A. Rosenfeld
- Mary Kay Koenig
- Julian A. Martinez-Agosto
- Matthew R. Herzog
- Ah Chen
- Patricia I. Dickson
- Henry J. Lin
- Moin Vera
- Noriko Salamon
- Damara Ortiz
- Elena Infante
- Wouter Steyaert
- Bart Dermaut
- Bruce Poppe
- Hyunglok Chung
- Zhongyuan Zuo
- Pei-Tseng Lee
- Oguz Kanca
- Fan Xia
- Yaping Yang
- Edward C. Smith
- Joan Jasien
- Sujay Kansagra
- Gail A. Spiridigliozzi
- Maysantoine A. El-Dairi
- Robert K. Lark
- K Riley
- Dwight D. Koeberl
- Katie Golden-Grant
- Shinya Yamamoto
- Michael F. Wangler
- Ghayda M. Mirzaa
- Dimitri Hemelsoet
- Brendan Lee
- Stanley F. Nelson
- David B. Goldstein
- Hugo J. Bellen
- Loren D.M. Pena
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Citations (2) -
- Paul C. Marcogliese
- Vandana Shashi
- Rebecca C. Spillmann
- Nicholas Stong
- Jill A. Rosenfeld
- Mary Kay Koenig
- Julian A. Martinez-Agosto
- Matthew Herzog
- Agnes H. Chen
- Patricia I. Dickson
- Henry J. Lin
- Moin U. Vera
- Noriko Salamon
- John M. Graham
- Damara Ortiz
- Elena Infante
- Wouter Steyaert
- Bart Dermaut
- Bruce Poppe
- Hyunglok Chung
- Zhongyuan Zuo
- Pei-Tseng Lee
- Oguz Kanca
- Fan Xia
- Yaping Yang
- Edward C. Smith
- Joan Jasien
- Sujay Kansagra
- Gail A. Spiridigliozzi
- Mays A. El-Dairi
- Robert K. Lark
- Kacie Riley
- Dwight D. Koeberl
- Katie Golden-Grant
- Steven Callens
- Paul Coucke
- Dimitri Hemelsoet
- Wim Terryn
- Rudy Van Coster
- David R. Adams
- Mercedes E. Alejandro
- Patrick Allard
- Mahshid S. Azamian
- Carlos A. Bacino
- Ashok Balasubramanyam
- Hayk Barseghyan
- Gabriel F. Batzli
- Alan H. Beggs
- Babak Behnam
- Anna Bican
- David P. Bick
- Camille L. Birch
- Devon Bonner
- Braden E. Boone
- Bret Bostwick
- Lauren C. Briere
- Donna M. Brown
- Matthew Brush
- Elizabeth A. Burke
- Lindsay C. Burrage
- Shan Chen
- Gary D. Clark
- Terra R. Coakley
- Joy D. Cogan
- Cynthia M. Cooper
- Heidi Cope
- William J. Craigen
- Precilla D'Souza
- Mariska Davids
- Jyoti G. Dayal
- Esteban C. Dell’Angelica
- Shweta U. Dhar
- Ani Dillon
- Katrina M. Dipple
- Laurel A. Donnell-Fink
- Naghmeh Dorrani
- Daniel C. Dorset
- Emilie D. Douine
- David D. Draper
- David J. Eckstein
- Lisa Emrick
- Christine M. Eng
- Ascia Eskin
- Cecilia Esteves
- Tyra Estwick
- Carlos R. Ferreira
- Brent L. Fogel
- Noah D. Friedman
- William A. Gahl
- Emily Glanton
- Rena Godfrey
- David B. Goldstein
- Sarah E. Gould
- Jean-Philippe Gourdine
- Catherine Groden
- Andrea Gropman
- Melissa Haendel
- Rizwan Hamid
- Neil A. Hanchard
- Lori H. Handley
- Matthew R. Herzog
- Ingrid A. Holm
- Jason Hom
- Ellen M. Howerton
- Yong Huang
- Howard J. Jacob
- Mahim Jain
- Yong-hui Jiang
- Jean M. Johnston
- Angela L. Jones
- Isaac S. Kohane
- Donna Krasnewich
- Elizabeth L. Krieg
- Joel B. Krier
- Seema R. Lalani
- C. Christopher Lau
- Jozef Lazar
- Brendan Lee
- Hane Lee
- Shawn Levy
- Richard Alan Lewis
- Sharyn Lincoln
- Allen Lipson
- 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
- Shruti Marwaha
- Thomas May
- Allyn McConkie Rosell
- Colleen E. McCormack
- Alexa T. McCray
- Matthew Might
- Paolo Moretti
- Marie Morimoto
- John J. Mulvihill
- Jennifer L. Murphy
- Donna M. Muzny
- Michele E. Nehrebecky
- Stan F. Nelson
- J. Scott Newberry
- John H. Newman
- Sarah K. Nicholas
- Donna Novacic
- Jordan S. Orange
- J. Carl Pallais
- Christina G.S. Palmer
- Jeanette C. Papp
- Neil H. Parker
- Loren D.M. Pena
- John A. Phillips
- Jennifer E. Posey
- John H. Postlethwait
- Lorraine Potocki
- Barbara N. Pusey
- Chloe M. Reuter
- Amy K. Robertson
- Lance H. Rodan
- Jacinda Sampson
- Susan L Samson
- Kelly Schoch
- Molly C. Schroeder
- Daryl A. Scott
- Prashant Sharma
- Rebecca Signer
- Edwin K. Silverman
- Janet S. Sinsheimer
- Kevin S. Smith
- Kimberly Splinter
- Joan M. Stoler
- Jennifer A. Sullivan
- David A. Sweetser
- Cynthia J. Tifft
- Camilo Toro
- Alyssa A. Tran
- Tiina K. Urv
- Zaheer M. Valivullah
- Eric Vilain
- Tiphanie P. Vogel
- Colleen Wahl
- Nicole M. Walley
- Christopher A. Walsh
- Patricia A. Ward
- Katrina M. Waters
- Monte Westerfield
- Anastasia L. Wise
- Lynne A. Wolfe
- Elizabeth A. Worthey
- Shinya Yamamoto
- Guoyun Yu
- Diane B. Zastrow
- Allison Zheng
- Michael F. Wangler
- Ghayda M. Mirzaa
- Brendan Lee
- Stanley F. Nelson
- Hugo J. Bellen
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