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- Magdalena Koczkowska
- Tom Callens
- Alicia Gomes
- Angela Sharp
- Yunjia Chen
- Alesha D. Hicks
- Arthur S. Aylsworth
- Amedeo A. Azizi
- Donald Basel
- Gary Bellus
- Lynne M. Bird
- Maria A. Blazo
- Leah W. Burke
- Ashley Cannon
- Felicity Collins
- Colette DeFilippo
- Ellen Denayer
- Maria Cristina Digilio
- Shelley K. Dills
- Laura Dosa
- Robert Greenwood
- Cristin Griffis
- Punita Gupta
- Rachel K. Hachen
- Concepción Hernández-Chico
- Sandra Janssens
- Kristi J. Jones
- Justin T. Jordan
- Peter Kannu
- Bruce R. Korf
- Andrea M. Lewis
- Robert Listernick
- Fortunato Lonardo
- Maurice J. Mahoney
- Mayra Martinez Ojeda
- Marie McDonald
- Carey McDougall
- Nancy J. Mendelsohn
- David T. Miller
- Mari Mori
- Rianne Oostenbrink
- Sébastien Perreault
- Mary Ella M Pierpont
- Carmelo Piscopo
- Dinel A. Pond
- Linda M. Randolph
- Katherine A. Rauen
- Surya P. Rednam
- S. Lane Rutledge
- Veronica Saletti
- G. Bradley Schaefer
- Elizabeth K. Schorry
- Daryl A. Scott
- Andrea Shugar
- Elizabeth Siqveland
- Lois J. Starr
- Ashraf Syed
- Pamela L. Trapane
- Nicole J. Ullrich
- Emily G. Wakefield
- Laurence E. Walsh
- Michael F. Wangler
- Elaine H. Zackai
- Kathleen Claes
- Katharina Wimmer
- Rick van Minkelen
- Alessandro De Luca
- Yolanda Martin
- Eric Legius
- Ludwine Messiaen
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Citations (0) - 2019 Genetics in Medicine
- Magdalena Koczkowska
- Tom Callens
- Alicia Gomes
- Angela Sharp
- Yunjia Chen
- Alesha D. Hicks
- Arthur S. Aylsworth
- Amedeo A. Azizi
- Donald Basel
- Gary Bellus
- Lynne M. Bird
- Maria A. Blazo
- Leah W. Burke
- Ashley Cannon
- Felicity Collins
- Colette DeFilippo
- Ellen Denayer
- Maria Cristina Digilio
- Shelley K. Dills
- Laura Dosa
- Robert S. Greenwood
- Cristin Griffis
- Punita Gupta
- Rachel K. Hachen
- Concepción Hernández-Chico
- Sandra Janssens
- Kristi J. Jones
- Justin T. Jordan
- Peter Kannu
- Bruce R. Korf
- Andrea M. Lewis
- Robert Listernick
- Fortunato Lonardo
- Maurice J. Mahoney
- Mayra Martinez Ojeda
- Marie McDonald
- Carey McDougall
- Nancy J. Mendelsohn
- David T. Miller
- Mari Mori
- Rianne Oostenbrink
- Sébastien Perreault
- Mary Ella M Pierpont
- Carmelo Piscopo
- Dinel Pond
- Linda M. Randolph
- Katherine A. Rauen
- Surya P. Rednam
- S. Lane Rutledge
- Veronica Saletti
- G. Bradley Schaefer
- Elizabeth K. Schorry
- Daryl A. Scott
- Andrea Shugar
- Elizabeth Siqveland
- Lois J. Starr
- Ashraf Syed
- Pamela Trapane
- Nicole J. Ullrich
- Emily Wakefield
- Laurence E. Walsh
- Michael F. Wangler
- Elaine H. Zackai
- Kathleen Claes
- Katharina Wimmer
- Rick van Minkelen
- Alessandro De Luca
- Yolanda Martín
- Eric Legius
- Ludwine Messiaen
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Citations (35) - 2019 Human Mutation
- Magdalena Koczkowska
- Tom Callens
- Yunjia Chen
- Alicia Gomes
- Alesha D. Hicks
- Angela Sharp
- Eric Johns
- Kim Armfield Uhas
- Linlea Armstrong
- Katherine A. Bosanko
- Dusica Babovic-Vuksanovic
- Laura D. Baker
- Donald Basel
- Mario Bengala
- James T. Bennett
- Chelsea Chambers
- Lola K. Clarkson
- Maurizio Clementi
- Fanny Cortés
- Mitch Cunningham
- M. Daniela D'Agostino
- Martin B. Delatycki
- Maria Cristina Digilio
- Laura Dosa
- Silvia Esposito
- Stephanie Fox
- Mary-Louise Freckmann
- Christine Fauth
- Teresa Giugliano
- Sandra Giustini
- Allison L. Goetsch
- Yael Goldberg
- Robert Greenwood
- Cristin Griffis
- Karen W. Gripp
- Punita Gupta
- Eric Haan
- Rachel K. Hachen
- Tamara L. Haygarth
- Concepción Hernández-Chico
- Katelyn D. Hodge
- Robert J. Hopkin
- Louanne Hudgins
- Sandra Janssens
- Kory Keller
- Geraldine Kelly-Mancuso
- Aaina Kochhar
- Bruce R. Korf
- Andrea M. Lewis
- Jan Liebelt
- Angie W. Lichty
- Robert Listernick
- Michael J. Lyons
- Isabelle Maystadt
- Mayra Martinez Ojeda
- Carey McDougall
- Lesley K. McGregor
- Daniela Melis
- Nancy J. Mendelsohn
- Małgorzata J.M. Nowaczyk
- June Ortenberg
- Karin Panzer
- John G. Pappas
- Mary Ella M Pierpont
- Giulio Piluso
- Valentina Pinna
- Eniko K. Pivnick
- Dinel A. Pond
- Cynthia M. Powell
- Caleb Rogers
- Noa Ruhrman-Shahar
- S. Lane Rutledge
- Veronica Saletti
- Sarah A. Sandaradura
- Claudia Santoro
- Ulrich A. Schatz
- Allison Schreiber
- Daryl A. Scott
- Elizabeth A. Sellars
- Ruth Sheffer
- Elizabeth Siqveland
- John M. Slopis
- Rosemarie Smith
- Alberto Spalice
- David W. Stockton
- Haley Streff
- Amy Theos
- Gail E. Tomlinson
- Grace Tran
- Pamela L. Trapane
- Eva Trevisson
- Nicole J. Ullrich
- Jenneke van den Ende
- Samantha A. Schrier Vergano
- Stephanie E. Wallace
- Michael F. Wangler
- David D. Weaver
- Kaleb Yohay
- Elaine H. Zackai
- Jonathan Zonana
- Vickie Zurcher
- Kathleen Claes
- Marica Eoli
- Yolanda Martin
- Katharina Wimmer
- Alessandro De Luca
- Eric Legius
- Ludwine Messiaen
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Citations (34) - 2018 Genetics in Medicine
- Magdalena Koczkowska
- Tom Callens
- Alicia Gomes
- Angela Sharp
- Yunjia Chen
- Alesha D. Hicks
- Arthur S. Aylsworth
- Amedeo A. Azizi
- Donald Basel
- Gary Bellus
- Lynne M. Bird
- Maria A. Blazo
- Leah W. Burke
- Ashley Cannon
- Felicity Collins
- Colette DeFilippo
- Ellen Denayer
- Maria Cristina Digilio
- Shelley K. Dills
- Laura Dosa
- Robert S. Greenwood
- Cristin Griffis
- Punita Gupta
- Rachel K. Hachen
- Concepción Hernández-Chico
- Sandra Janssens
- Kristi J. Jones
- Justin T. Jordan
- Peter Kannu
- Bruce R. Korf
- Andrea M. Lewis
- Robert Listernick
- Fortunato Lonardo
- Maurice J. Mahoney
- Mayra Martinez Ojeda
- Marie McDonald
- Carey McDougall
- Nancy J. Mendelsohn
- David T. Miller
- Mari Mori
- Rianne Oostenbrink
- Sébastien Perreault
- Mary Ella M Pierpont
- Carmelo Piscopo
- Dinel Pond
- Linda M. Randolph
- Katherine A. Rauen
- Surya P. Rednam
- S. Lane Rutledge
- Veronica Saletti
- G. Bradley Schaefer
- Elizabeth K. Schorry
- Daryl A. Scott
- Andrea Shugar
- Elizabeth Siqveland
- Lois J. Starr
- Ashraf Syed
- Pamela Trapane
- Nicole J. Ullrich
- Emily Wakefield
- Laurence E. Walsh
- Michael F. Wangler
- Elaine H. Zackai
- Kathleen Claes
- Katharina Wimmer
- Rick van Minkelen
- Alessandro De Luca
- Yolanda Martín
- Eric Legius
- Ludwine Messiaen
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Citations (0) - 2014 Genetics in Medicine
- Douglas R. Stewart
- Hilde Brems
- Alicia G. Gomes
- Sarah L. Ruppert
- Tom Callens
- Jennifer Williams
- Kathleen Claes
- Michael B. Bober
- Rachel K. Hachen
- Leonard B. Kaban
- Hua Li
- Angela E. Lin
- Marie McDonald
- Serge Melancon
- June Ortenberg
- Heather B. Radtke
- Ignace Samson
- Robert A. Saul
- Joseph Shen
- Elizabeth Siqveland
- Tomi L. Toler
- Merel van Maarle
- Margaret R. Wallace
- Misti Williams
- Eric Legius
- Ludwine Messiaen
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Citations (18) - 2009 JAMA
- Ludwine Messiaen
- Suxia Yao
- Hilde Brems
- Tom Callens
- Achara Sathienkijkanchai
- Ellen Denayer
- Emily Spencer
- Pamela Arn
- Dusica Babovic-Vuksanovic
- Carolyn Bay
- Gary B. Bobele
- Bruce H. Cohen
- Luis F. Escobar
- Deborah L. Eunpu
- Theresa A. Grebe
- Robert M. Greenstein
- Rachel K. Hachen
- Mira Irons
- David Kronn
- Edmond G. Lemire
- Kathleen A. Leppig
- Cynthia Lim
- Marie McDonald
- Vinodh Narayanan
- Amy Pearn
- Robert Pedersen
- Berkley R. Powell
- Lawrence R. Shapiro
- David L. Skidmore
- David Tegay
- Heidi Thiese
- Elaine H. Zackai
- Raymon Vijzelaar
- Koji Taniguchi
- Toranoshin Ayada
- Fuyuki Okamoto
- Akihiko Yoshimura
- Annabel Parret
- Bruce R. Korf
- Eric Legius
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Citations (139) -
- Ludwine Messiaen
- Suxia Yao
- Hilde Brems
- T Callens
- Ellen Denayer
- Pamela Arn
- Dusica Babovic-Vuksanovic
- Carolyn Bay
- Luis F. Escobar
- Robert M. Greenstein
- Rachel K. Hachen
- Mira Irons
- Edmond G. Lemire
- Kathleen A. Leppig
- Marie McDonald
- Narayanan
- Lawrence R. Shapiro
- David Tegay
- Elaine H. Zackai
- Koji Taniguchi
- Toranoshin Ayada
- Akihiko Yoshimura
- Annabel Parret
- Bruce R. Korf
- Eric Legius
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