Details

Autor(en) / Beteiligte

• Splinter, Kimberly
• Adams, David R
• Bacino, Carlos A
• Bellen, Hugo J
• Bernstein, Jonathan A
• Cheatle-Jarvela, Alys M
• Eng, Christine M
• Esteves, Cecilia
• Gahl, William A
• Hamid, Rizwan
• Jacob, Howard J
• Kikani, Bijal
• Koeller, David M
• Kohane, Isaac S
• Lee, Brendan H
• Loscalzo, Joseph
• Luo, Xi
• McCray, Alexa T
• Metz, Thomas O
• Mulvihill, John J
• Nelson, Stanley F
• Palmer, Christina G.S
• Phillips, John A
• Pick, Leslie
• Postlethwait, John H
• Reuter, Chloe
• Shashi, Vandana
• Sweetser, David A
• Tifft, Cynthia J
• Walley, Nicole M
• Wangler, Michael F
• Westerfield, Monte
• Wheeler, Matthew T
• Wise, Anastasia L
• Worthey, Elizabeth A
• Yamamoto, Shinya
• Ashley, Euan A

Titel

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Ist Teil von

• The New England journal of medicine, 2018-11, Vol.379 (22), p.2131-2139

Ort / Verlag

United States: Massachusetts Medical Society

Erscheinungsjahr

2018

Quelle

MEDLINE

Beschreibungen/Notizen

• The Undiagnosed Diseases Network, an NIH-funded network of seven U.S. sites, accepted 601 patients for evaluation over a 20-month period. Of the 382 patients who had a complete evaluation, 132 (35%) received a diagnosis; 15 of the diagnoses (11%) were made by clinical review alone and 98 (74%) by exome or genome sequencing.