The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
- Wright, Caroline F.
- Campbell, Patrick
- Eberhardt, Ruth Y.
- Aitken, Stuart
- Perrett, Daniel
- Brent, Simon
- Danecek, Petr
- Gardner, Eugene J.
- Chundru, V. Kartik
- Lindsay, Sarah J.
- Andrews, Katrina
- Hampstead, Juliet
- Kaplanis, Joanna
- Samocha, Kaitlin E.
- Middleton, Anna
- Foreman, Julia
- Hobson, Rachel J.
- Parker, Michael J.
- Martin, Hilary C.
- FitzPatrick, David R.
- Hurles, Matthew E.
- Firth, Helen V.
2023
Details
- Autor(en) / Beteiligte
- Wright, Caroline F.
- Campbell, Patrick
- Eberhardt, Ruth Y.
- Aitken, Stuart
- Perrett, Daniel
- Brent, Simon
- Danecek, Petr
- Gardner, Eugene J.
- Chundru, V. Kartik
- Lindsay, Sarah J.
- Andrews, Katrina
- Hampstead, Juliet
- Kaplanis, Joanna
- Samocha, Kaitlin E.
- Middleton, Anna
- Foreman, Julia
- Hobson, Rachel J.
- Parker, Michael J.
- Martin, Hilary C.
- FitzPatrick, David R.
- Hurles, Matthew E.
- Firth, Helen V.
- Titel
- Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
- Ist Teil von
- The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
- Ort / Verlag
- United States: Massachusetts Medical Society
- Erscheinungsjahr
- 2023
- Link zum Volltext
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- The DDD study recruited more than 13,500 families with probands with severe, probably monogenic disorders in the United Kingdom and Ireland and obtained a genetic diagnosis in approximately 41% of probands.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0028-4793eISSN: 1533-4406DOI: 10.1056/NEJMoa2209046Titel-ID: cdi_proquest_miscellaneous_2800627359
- Format
- –
- Schlagworte
- Algorithms, Child, Child Behavior Disorders - diagnosis, Child Behavior Disorders - genetics, Congenital Abnormalities - diagnosis, Congenital Abnormalities - genetics, Developmental disabilities, Diabetes mellitus, Diagnosis, Disease, Exome, Facies, Genes, Genetic Association Studies, Genetic counseling, Genetic Diseases, Inborn - diagnosis, Genetic Diseases, Inborn - genetics, Genetic testing, Genetics, Genetics General, Genomics, Genotype & phenotype, Growth Disorders - diagnosis, Growth Disorders - genetics, Humans, Intrauterine exposure, Ireland - epidemiology, Medical diagnosis, Neurodevelopmental Disorders - diagnosis, Neurodevelopmental Disorders - genetics, Offspring, Oligonucleotide Array Sequence Analysis, Pediatrics, Pediatrics General, Public Health, Public Health General, Rare Diseases - diagnosis, Rare Diseases - epidemiology, Rare Diseases - genetics, Research ethics, United Kingdom - epidemiology