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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 Nature Genetics
- Margot A. Cousin
- Blake A. Creighton
- Keith A. Breau
- Rebecca C. Spillmann
- Erin Torti
- Sruthi Dontu
- Swarnendu Tripathi
- Deepa Ajit
- Reginald James Edwards
- Simone Afriyie
- Julia C Bay
- Kathryn M. Harper
- Alvaro A. Beltran
- Lorena J. Munoz
- Liset Falcon Rodriguez
- Michael C. Stankewich
- Richard Person
- Yue Si
- Elizabeth A. Normand
- Amy Blevins
- Alison S. May
- Louise Bier
- Vimla Aggarwal
- Grazia M.S. Mancini
- Marjon van Slegtenhorst
- Kirsten Cremer
- Jessica Becker
- Hartmut Engels
- Stefan Aretz
- Jennifer MacKenzie
- Eva H. Brilstra
- Koen L.I. van Gassen
- Richard H. van Jaarsveld
- Renske Oegema
- Gretchen M. Parsons
- Paul R. Mark
- Ingo Helbig
- Sarah E. McKeown
- Robert Stratton
- Benjamin Cogné
- Bertrand Isidor
- Pilar Cacheiro
- Damian Smedley
- Helen V. Firth
- Tatjana Bierhals
- Katja Kloth
- Deike Weiss
- Cecilia Fairley
- Joseph T.C. Shieh
- Amy Kritzer
- Parul Jayakar
- Evangeline Kurtz-Nelson
- Raphael A. Bernier
- Tianyun Wang
- Evan E. Eichler
- Ingrid M.B.H. van de Laar
- Allyn McConkie Rosell
- Marie T. McDonald
- Jennifer L. Kemppainen
- Brendan C. Lanpher
- Laura Schultz-Rogers
- Lauren Gunderson
- Pavel N. Pichurin
- Grace Yoon
- Michael Zech
- Robert Jech
- Juliane Winkelmann
- Adriana S. Beltran
- Michael T. Zimmermann
- Brenda Temple
- Sheryl S. Moy
- Eric W. Klee
- Queenie K.-G. Tan
- Damaris N. Lorenzo
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Citations (4) - 2021 Pediatrics
- Michael Pugliese
- Kylie Tingley
- Andrea Chow
- Nicole Pallone
- Maureen Smith
- Pranesh Chakraborty
- Michael T. Geraghty
- Julie K. Irwin
- John J. Mitchell
- Sylvia Stockler
- Stuart G. Nicholls
- Martin Offringa
- Alvi Rahman
- Laure A. Tessier
- Nancy J. Butcher
- Ryan Iverson
- Monica Lamoureux
- Tammy Clifford
- Brian Hutton
- Karen Paik
- Jessica Tao
- Becky Skidmore
- Doug Coyle
- Kathleen Duddy
- Sarah Dyack
- Cheryl R. Greenberg
- Shailly Jain Ghai
- Natalya Karp
- Lawrence Korngut
- Jonathan B. Kronick
- Alex MacKenzie
- Jennifer MacKenzie
- Bruno Maranda
- Murray A. Potter
- Chitra Prasad
- Andreas Schulze
- Rebecca Sparkes
- Monica Taljaard
- Yannis Trakadis
- Jagdeep Walia
- Beth K. Potter
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Citations (3) -
- Michael Pugliese
- Kylie Tingley
- Andrea Chow
- Nicole Pallone
- Maureen Smith
- Alvi Rahman
- Pranesh Chakraborty
- Michael T. Geraghty
- Julie Irwin
- Laure Tessier
- Stuart G. Nicholls
- Martin Offringa
- Nancy J. Butcher
- Ryan Iverson
- Tammy Clifford
- Sylvia Stockler
- Brian Hutton
- Karen Paik
- Jessica Tao
- Becky Skidmore
- Doug Coyle
- Kathleen Duddy
- Sarah Dyack
- Cheryl R. Greenberg
- Shailly Jain-Ghai
- Natalya Karp
- Lawrence Korngut
- Jonathan B. Kronick
- Alex MacKenzie
- Jennifer MacKenzie
- Bruno Maranda
- John J. Mitchell
- Murray Potter
- Chitra Prasad
- Andreas Schulze
- Rebecca Sparkes
- Monica Taljaard
- Yannis Trakadis
- Jagdeep S. Walia
- Beth K. Potter
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Citations (8) - 2020 Nature
- Panfeng Tao
- Jinqiao Sun
- Zheming Wu
- Shihao Wang
- Jun Wang
- Wanjin Li
- Heling Pan
- Renkui Bai
- Jiahui Zhang
- Ying Wang
- Pui Y. Lee
- Wenjing Ying
- Qinhua Zhou
- Jia Hou
- Wenjie Wang
- Bijun Sun
- Mi Yang
- Danru Liu
- Ran Fang
- Huan Han
- Zhaohui Yang
- Xin Huang
- Haibo Li
- Natalie Deuitch
- Yuan Zhang
- Dilan Dissanayake
- Katrina Haude
- Kirsty McWalter
- Chelsea Roadhouse
- Jennifer MacKenzie
- Ronald M. Laxer
- Ivona Aksentijevich
- Xiaomin Yu
- Xiaochuan Wang
- Junying Yuan
- Qing Zhou
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Citations (67) -
- Kylie Tingley
- Monica Lamoureux
- Michael Pugliese
- Michael T. Geraghty
- Jonathan B. Kronick
- Beth K. Potter
- Doug Coyle
- Kumanan Wilson
- Michael Kowalski
- Valerie Austin
- Catherine Brunel-Guitton
- Daniela Buhas
- Alicia K.J. Chan
- Sarah Dyack
- Annette Feigenbaum
- Alette Giezen
- Sharan Goobie
- Cheryl R. Greenberg
- Shailly Jain-Ghai
- Michal Inbar Feigenberg
- Natalya Karp
- Mariya Kozenko
- Erica Langley
- Matthew A. Lines
- Julian Little
- Jennifer MacKenzie
- Bruno Maranda
- Saadet Mercimek-Andrews
- Connie M. Mohan
- Aizeddin A. Mhanni
- Grant A. Mitchell
- John J. Mitchell
- Laura Nagy
- Melanie Napier
- Amy Pender
- Murray Potter
- Chitra Prasad
- Suzanne Ratko
- Ramona Salvarinova
- Andreas Schulze
- Komudi Siriwardena
- Neal Sondheimer
- Rebecca Sparkes
- Sylvia Stockler-Ipsiroglu
- Yannis Trakadis
- Lesley Turner
- Clara D.M. van Karnebeek
- Hilary Vallance
- Anthony Vandersteen
- Jagdeep S. Walia
- Ashley Wilson
- Brenda Wilson
- Andrea C. Yu
- Nataliya Yuskiv
- Pranesh Chakraborty
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