The New England journal of medicine, 2018-11, Vol.379 (22), p.2131-2139
- 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
2018
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
- Link zum Volltext
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa1714458Titel-ID: cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6481166
- Format
- –
- Schlagworte
- Adult, Animals, Child, Diagnosis, Diagnosis, Differential, Drosophila, Exome, Female, Genetic counseling, Genetic disorders, Genetic screening, Genetic Testing - economics, Genomes, Health care, Health Care Costs - statistics & numerical data, Humans, Male, Medical diagnosis, Metabolomics, Models, Animal, National Institutes of Health (U.S.), Patients, Rare Diseases - diagnosis, Rare Diseases - genetics, Sequence Analysis, DNA, Syndrome, Teams, United States