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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

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.

The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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Título:
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
Autor: 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.
Assuntos: 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
É parte de: The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: 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.
Editor: United States: Massachusetts Medical Society
Idioma: Inglês

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland

United States: Massachusetts Medical Society

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