Large-scale discovery of novel genetic causes of developmental disorders
Large-scale discovery of novel genetic causes of developmental disorders
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Full title
Author / Creator
van Kogelenberg, M , Goudie, D , Gray, E , Harrison, L , Hawkins, R , Henderson, A , Holder, S , Irving, M , Bayzetinova, T , Jones, D , Kini, U , Kinning, E , Kirby, G , Kirk, C , Kumar, D , Lachlan, K , Lees, M , Lim, D , Coomber, E L , Lowther, G , Lynch, S A , Maher, E , Mansour, S , Maye, U , McCann, E , McMullan, D J , McNerlan, S , Metcalfe, K , Mohammed, S , Jones, P , Moore, D , Morton, J , Mugalaasi, H , Newbury-Ecob, R , Ogilvie, C , Park, S , Parker, M J , Patel, C , Porteous, D , Mason, L E , Ragge, N , Rankin, J , Raymond, L , Rosser, E , Miller, R , Sarkar, A , Scott, C , Scott, R , Selby, A , Shannon, N , Simpkin, D , Singzon, R , Skitt, Z , Rajan, D , Splitt, M , Stewart, F , Swaminathan, G J , Tatton-Brown, K , Temple, I K , Torokwa, A , Turner, C , Turnpenny, P , Tysoe, C , Vandersteen, A , Walker, D , Ahmed, M , Widaa, S , Williams, N , Wragg, C , Yau, M , FitzPatrick, D R , Anjum, U , Balasubramanian, M , Banerjee, R , Baralle, D , Baty, D , Bennett, C , Berg, J , Bevan, A P , Bourdon, L , Brady, A , Burton, J , Chandler, K , Cooper, N , Cross, G , D'Alessandro, M , Dabir, T , Davidson, R , Davies, S , Dean, J , Deshpande, C , Donnelly, C , Douglas, A , Eason, J , Edkins, S , Foulds, N , Fryer, A , Gardiner, C , Pereira, S L Gomes , Goodship, J , The Deciphering Developmental Disorders Study and Deciphering Developmental Disorders Study
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Up to half of children with severe developmental disorders of probable genetic origin remain without a genetic diagnosis; here, in a systematic and nationwide study of 1,133 children with severe, undiagnosed developmental disorders, and their parents, exome sequencing and array-based detection of chromosomal rearrangements reveals novel genes causi...
Alternative Titles
Full title
Large-scale discovery of novel genetic causes of developmental disorders
Authors, Artists and Contributors
Author / Creator
Goudie, D
Gray, E
Harrison, L
Hawkins, R
Henderson, A
Holder, S
Irving, M
Bayzetinova, T
Jones, D
Kini, U
Kinning, E
Kirby, G
Kirk, C
Kumar, D
Lachlan, K
Lees, M
Lim, D
Coomber, E L
Lowther, G
Lynch, S A
Maher, E
Mansour, S
Maye, U
McCann, E
McMullan, D J
McNerlan, S
Metcalfe, K
Mohammed, S
Jones, P
Moore, D
Morton, J
Mugalaasi, H
Newbury-Ecob, R
Ogilvie, C
Park, S
Parker, M J
Patel, C
Porteous, D
Mason, L E
Ragge, N
Rankin, J
Raymond, L
Rosser, E
Miller, R
Sarkar, A
Scott, C
Scott, R
Selby, A
Shannon, N
Simpkin, D
Singzon, R
Skitt, Z
Rajan, D
Splitt, M
Stewart, F
Swaminathan, G J
Tatton-Brown, K
Temple, I K
Torokwa, A
Turner, C
Turnpenny, P
Tysoe, C
Vandersteen, A
Walker, D
Ahmed, M
Widaa, S
Williams, N
Wragg, C
Yau, M
FitzPatrick, D R
Anjum, U
Balasubramanian, M
Banerjee, R
Baralle, D
Baty, D
Bennett, C
Berg, J
Bevan, A P
Bourdon, L
Brady, A
Burton, J
Chandler, K
Cooper, N
Cross, G
D'Alessandro, M
Dabir, T
Davidson, R
Davies, S
Dean, J
Deshpande, C
Donnelly, C
Douglas, A
Eason, J
Edkins, S
Foulds, N
Fryer, A
Gardiner, C
Pereira, S L Gomes
Goodship, J
The Deciphering Developmental Disorders Study
Deciphering Developmental Disorders Study
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5955210
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5955210
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/nature14135
