The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
Jessica X. Chong
,
Kati J. Buckingham
,
Shalini N. Jhangiani
,
Jessica X. Chong
,
Kati J. Buckingham
,
Shalini N. Jhangiani
,
Corinne D. Boehm
,
Nara Sobreira
,
Joshua D. Smith
,
Tanya M. Harrell
,
Margaret J. McMillin
,
Wojciech Wiszniewski
,
Tomasz Gambin
,
Zeynep H. Coban Akdemir
,
Kimberly F. Doheny
,
Alan F. Scott
,
Dimitri Avramopoulos
,
Aravinda Chakravarti
,
Julie Hoover‐Fong
,
Debra Mathews
,
P. Dane Witmer
,
Hua Ling
,
Kurt N. Hetrick
,
Lee Watkins
,
Karynne Patterson
,
Frédéric Reinier
,
Elizabeth Blue
,
Donna M. Muzny
,
Martin Kircher
,
Kaya Bilgüvar
,
Francesc López‐Giráldez
,
V. Reid Sutton
,
Holly K. Tabor
,
Suzanne M. Leal
,
Murat Günel
,
Shrikant Mane
,
Richard A. Gibbs
,
Eric Boerwinkle
,
Ada Hamosh
,
Jay Shendure
,
James R. Lupski
,
Richard P. Lifton
,
David Valle
,
Deborah A. Nickerson
,
Michael J. Bamshad
2015
The American Journal of Human Genetics
673 citations