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- 2021 BMC Medicine
- Eden Haverfield
- Edward D. Esplin
- Sienna Aguilar
- Kathryn E. Hatchell
- Kelly E. Ormond
- Andrea Hanson-Kahn
- Paldeep S. Atwal
- Sarah K. Macklin-Mantia
- Stephanie L. Hines
- Caron W.-M. Sak
- Steven Tucker
- Steven B. Bleyl
- Peter J. Hulick
- Ora K. Gordon
- Lea Velsher
- Jessica Y. J. Gu
- Scott M. Weissman
- Teresa M. Kruisselbrink
- Christopher Abel
- Michele Kettles
- Anne Slavotinek
- Bryce A. Mendelsohn
- Robert C. Green
- Swaroop Aradhya
- Robert L. Nussbaum
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Citations (2) - 2020 Genetics in Medicine
- Dominic Lenz
- Desirée E.C. Smith
- Ellen Crushell
- Ralf A. Husain
- Gajja S. Salomons
- Bader Alhaddad
- Jonathan A. Bernstein
- Alyssa Bianzano
- Saskia Biskup
- Heiko Brennenstuhl
- Dominique Caldari
- Nicola Dikow
- Tobias B. Haack
- Andrea Hanson-Kahn
- Inga Harting
- Denise Horn
- Joanne Hughes
- Maya Huijberts
- Bertrand Isidor
- S. Kathemann
- Robert Kopajtich
- Urania Kotzaeridou
- Sébastien Küry
- Elke Lainka
- Lucia Laugwitz
- James R. Lupski
- Jennifer E. Posey
- Claire Reynolds
- Jill A. Rosenfeld
- Julian Schröter
- Fleur Vansenne
- Matias Wagner
- Claudia Weiß
- Bruce H. R. Wolffenbuttel
- Saskia B. Wortmann
- Stefan Kölker
- Georg F. Hoffmann
- Holger Prokisch
- Marisa I. S. Mendes
- Christian Staufner
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Citations (6) - 2019 Human Mutation
- Hadia Hijazi
- Fernanda S. Coelho
- Claudia Gonzaga-Jauregui
- Laura Bernardini
- Soe Mar
- Melanie A. Manning
- Andrea Hanson-Kahn
- S. Naidu
- Siddharth Srivastava
- Jennifer A. Lee
- Julie R. Jones
- Michael J. Friez
- Thomas Alberico
- Barbara Torres
- Ping Fang
- Sau Wai Cheung
- Xiaofei Song
- Angelique Davis-Williams
- Carly Jornlin
- Patricia A. Wight
- Pankaj Patyal
- Jennifer R. Taube
- Andrea Poretti
- Ken Inoue
- Feng Zhang
- Davut Pehlivan
- Claudia M.B. Carvalho
- Grace M. Hobson
- James R. Lupski
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