Stephanie Lucia

Stephanie Lucia

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Stephanie Lucia

Stephanie Lucia

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An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.

Authors:
Alireza Haghighi Joel B Krier Agnes Toth-Petroczy Christopher A Cassa Natasha Y Frank Nikkola Carmichael Elizabeth Fieg Andrew Bjonnes Anwoy Mohanty Lauren C Briere Sharyn Lincoln Stephanie Lucia Vandana A Gupta Onuralp Söylemez Sheila Sutti Kameron Kooshesh Haiyan Qiu Christopher J Fay Victoria Perroni Jamie Valerius Meredith Hanna Alexander Frank Jodie Ouahed Scott B Snapper Angeliki Pantazi Sameer S Chopra Ignaty Leshchiner Nathan O Stitziel Anna Feldweg Michael Mannstadt Joseph Loscalzo David A Sweetser Eric Liao Joan M Stoler Catherine B Nowak Pedro A Sanchez-Lara Ophir D Klein Hazel Perry Nikolaos A Patsopoulos Soumya Raychaudhuri Wolfram Goessling Robert C Green Christine E Seidman Calum A MacRae Shamil R Sunyaev Richard L Maas Dana Vuzman

NPJ Genom Med 2018 13;3:21. Epub 2018 Aug 13.

1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA 02115 USA.

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http://dx.doi.org/10.1038/s41525-018-0060-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089983PMC
August 2018