The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

doi:10.1038/gim.0b013e318232a005

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The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2012

Gahl William A, Markello Thomas C, Toro Camilo, Fajardo Karin Fuentes, Sincan Murat, Gill Fred, Carlson-Donohoe Hannah, Gropman Andrea, Pierson Tyler Mark, Golas Gretchen, Wolfe Lynne, Groden Catherine, Godfrey Rena, Nehrebecky Michele, Wahl Colleen, Landis Dennis M D, Yang Sandra, Madeo Anne, Mullikin James C, Boerkoel Cornelius F, Tifft Cynthia J, Adams David

Abstract excerpt

PURPOSE: This report describes the National Institutes of Health Undiagnosed Diseases Program, details the Program's application of genomic technology to establish diagnoses, and details the Program's success rate during its first 2 years. METHODS: Each accepted study participant was extensively phenotyped. A subset of participants and selected family members (29 patients and 78 unaffected family members) was...

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PMID: 22237431
DOI: 10.1038/gim.0b013e318232a005
PMCID: PMC4098846

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