Genomic diagnosis for children with intellectual disability and/or developmental delay
Genomic diagnosis for children with intellectual disability and/or developmental delay
About this item
Full title
Author / Creator
Bowling, Kevin M. , Thompson, Michelle L. , Amaral, Michelle D. , Finnila, Candice R. , Hiatt, Susan M. , Engel, Krysta L. , Cochran, J. Nicholas , Brothers, Kyle B. , East, Kelly M. , Gray, David E. , Kelley, Whitley V. , Lamb, Neil E. , Lose, Edward J. , Rich, Carla A. , Simmons, Shirley , Whittle, Jana S. , Weaver, Benjamin T. , Nesmith, Amy S. , Myers, Richard M. , Barsh, Gregory S. , Bebin, E. Martina and Cooper, Gregory M.
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
Developmental disabilities have diverse genetic causes that must be identified to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 of which were sequenced as proband-parent trios.
Whole-exome sequences (WES) were generated for 365 individuals (127 affected) and whole-genome sequences (WGS) were generated...
Alternative Titles
Full title
Genomic diagnosis for children with intellectual disability and/or developmental delay
Authors, Artists and Contributors
Author / Creator
Thompson, Michelle L.
Amaral, Michelle D.
Finnila, Candice R.
Hiatt, Susan M.
Engel, Krysta L.
Cochran, J. Nicholas
Brothers, Kyle B.
East, Kelly M.
Gray, David E.
Kelley, Whitley V.
Lamb, Neil E.
Lose, Edward J.
Rich, Carla A.
Simmons, Shirley
Whittle, Jana S.
Weaver, Benjamin T.
Nesmith, Amy S.
Myers, Richard M.
Barsh, Gregory S.
Bebin, E. Martina
Cooper, Gregory M.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_895f744bb3324791b83b71e276793d82
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_895f744bb3324791b83b71e276793d82
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-017-0433-1
