Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE):...
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
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Author / Creator
Lord, Jenny , McMullan, Dominic J , Eberhardt, Ruth Y , Rinck, Gabriele , Hamilton, Susan J , Quinlan-Jones, Elizabeth , Prigmore, Elena , Carey, Georgina K , Mellis, Rhiannon , Robart, Sarah , Berry, Ian R , Chandler, Kate E , Cilliers, Deirdre , Cresswell, Lara , Edwards, Sandra L , Gardiner, Carol , Henderson, Alex , Holden, Simon T , Homfray, Tessa , Lester, Tracy , Newbury-Ecob, Ruth , Prescott, Katrina , Quarrell, Oliver W , Ramsden, Simon C , Roberts, Eileen , Tapon, Dagmar , Tooley, Madeleine J , Vasudevan, Pradeep C , Weber, Astrid P , Wellesley, Diana G , Westwood, Paul , White, Helen , Parker, Michael , Williams, Denise , Jenkins, Lucy , Scott, Richard H , Kilby, Mark D , Chitty, Lyn S , Hurles, Matthew E , Maher, Eamonn R , Bateman, Mark , Best, Sunayna K , Campbell, Carolyn , Carey, Georgina , Chitty, Lyn S , Cilliers, Deirdre , Cohen, Kelly , Collingwood, Emma , Constantinou, Panayiotis , Cresswell, Lara , Delmege, Catherine , Edwards, Sandra L , Ellis, Richard , Evans, Jerry , Everett, Thomas , Pinto, Clare F , Forrester, Natalie , Fowler, Emma , Gardiner, Carol , Hamilton, Susan , Healey, Karen , Henderson, Alex , Holden, Simon T , Homfray, Tessa , Hudson, Rebecca , Hurles, Matthew E , Jenkins, Lucy , Keelagher, Rebecca , Kilby, Mark D , Lester, Tracey , Lewis, Rebecca , Lord, Jenny , Maher, Eamonn R , Marton, Tamas , McMullan, Dominic J , Mehta, Sarju , Mellis, Rhiannon , Newbury-Ecob, Ruth , Park, Soo-Mi , Parker, Michael , Prescott, Katrina , Prigmore, Elena , Quarrell, Oliver W , Quinlan-Jones, Elizabeth , Ramsden, Simon C , Rinck, Gabriele , Robart, Sarah , Roberts, Eileen , Rowland, Jayne , Steer, James , Tapon, Dagmar , Taylor, Emma J , Tooley, Madeleine J , Vasudevan, Pradeep C , Weber, Astrid P , Wellesley, Diana G , Westwood, Paul , White, Helen , Williams, Denise , Wilson, Elizabeth and Prenatal Assessment of Genomes and Exomes Consortium
Publisher
England: Elsevier Ltd
Journal title
Language
English
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Publication information
Publisher
England: Elsevier Ltd
Subjects
More information
Scope and Contents
Contents
Fetal structural anomalies, which are detected by ultrasonography, have a range of genetic causes, including chromosomal aneuploidy, copy number variations (CNVs; which are detectable by chromosomal microarrays), and pathogenic sequence variants in developmental genes. Testing for aneuploidy and CNVs is routine during the investigation of fetal str...
Alternative Titles
Full title
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
Authors, Artists and Contributors
Author / Creator
McMullan, Dominic J
Eberhardt, Ruth Y
Rinck, Gabriele
Hamilton, Susan J
Quinlan-Jones, Elizabeth
Prigmore, Elena
Carey, Georgina K
Mellis, Rhiannon
Robart, Sarah
Berry, Ian R
Chandler, Kate E
Cilliers, Deirdre
Cresswell, Lara
Edwards, Sandra L
Gardiner, Carol
Henderson, Alex
Holden, Simon T
Homfray, Tessa
Lester, Tracy
Newbury-Ecob, Ruth
Prescott, Katrina
Quarrell, Oliver W
Ramsden, Simon C
Roberts, Eileen
Tapon, Dagmar
Tooley, Madeleine J
Vasudevan, Pradeep C
Weber, Astrid P
Wellesley, Diana G
Westwood, Paul
White, Helen
Parker, Michael
Williams, Denise
Jenkins, Lucy
Scott, Richard H
Kilby, Mark D
Chitty, Lyn S
Hurles, Matthew E
Maher, Eamonn R
Bateman, Mark
Best, Sunayna K
Campbell, Carolyn
Carey, Georgina
Chitty, Lyn S
Cilliers, Deirdre
Cohen, Kelly
Collingwood, Emma
Constantinou, Panayiotis
Cresswell, Lara
Delmege, Catherine
Edwards, Sandra L
Ellis, Richard
Evans, Jerry
Everett, Thomas
Pinto, Clare F
Forrester, Natalie
Fowler, Emma
Gardiner, Carol
Hamilton, Susan
Healey, Karen
Henderson, Alex
Holden, Simon T
Homfray, Tessa
Hudson, Rebecca
Hurles, Matthew E
Jenkins, Lucy
Keelagher, Rebecca
Kilby, Mark D
Lester, Tracey
Lewis, Rebecca
Lord, Jenny
Maher, Eamonn R
Marton, Tamas
McMullan, Dominic J
Mehta, Sarju
Mellis, Rhiannon
Newbury-Ecob, Ruth
Park, Soo-Mi
Parker, Michael
Prescott, Katrina
Prigmore, Elena
Quarrell, Oliver W
Quinlan-Jones, Elizabeth
Ramsden, Simon C
Rinck, Gabriele
Robart, Sarah
Roberts, Eileen
Rowland, Jayne
Steer, James
Tapon, Dagmar
Taylor, Emma J
Tooley, Madeleine J
Vasudevan, Pradeep C
Weber, Astrid P
Wellesley, Diana G
Westwood, Paul
White, Helen
Williams, Denise
Wilson, Elizabeth
Prenatal Assessment of Genomes and Exomes Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6386638
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6386638
Other Identifiers
ISSN
0140-6736
E-ISSN
1474-547X
DOI
10.1016/S0140-6736(18)31940-8
