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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Crossref DOI link: https://doi.org/10.1038/gim.2017.128

Published: 2018-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Pena, Loren D M

,

Jiang, Yong-Hui

Schoch, Kelly

Spillmann, Rebecca C

Walley, Nicole

Stong, Nicholas

Rapisardo Horn, Sarah

Sullivan, Jennifer A

McConkie-Rosell, Allyn

Kansagra, Sujay

Smith, Edward C

El-Dairi, Mays

Bellet, Jane

Keels, Martha Ann

Jasien, Joan

Kranz, Peter G

Noel, Richard

Nagaraj, Shashi K

Lark, Robert K

Wechsler, Daniel S G

del Gaudio, Daniela

Leung, Marco L

Hendon, Laura G

Parker, Collette C

Jones, Kelly L

Goldstein, David B

Shashi, Vandana
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Article History

Received: 16 May 2017

Accepted: 16 June 2017

First Online: 14 September 2017

Competing interests

: D.B.G. is a founder of and holds equity in Pairnomix and Praxis, serves as a consultant to AstraZeneca, and has research supported by Janssen, Gilead, Biogen, AstraZeneca, and UCB. The other authors declare no conflict of interest.