The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Jessica X. Chong, Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith, Tanya M. Harrell, Margaret J. McMillin, Wojciech Wiszniewski, Tomasz Gambin, Zeynep H. Coban Akdemir, Kimberly Doheny, Alan F. Scott, Dimitri Avramopoulos, Aravinda Chakravarti, Julie Hoover-Fong, Debra Mathews, P. Dane Witmer, Hua Ling, Kurt HetrickLee Watkins, Karynne E. Patterson, Frederic Reinier, Elizabeth Blue, Donna Muzny, Martin Kircher, Kaya Bilguvar, Francesc López-Giráldez, V. Reid Sutton, Holly K. Tabor, Suzanne M. Leal, Murat Gunel, 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

Research output: Contribution to journal › Review article › peer-review

468 Scopus citations

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Medicine & Life Sciences