Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mut...
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
About this item
Full title
Author / Creator
Bernkopf, Marie , Abdullah, Ummi B. , Bush, Stephen J. , Wood, Katherine A. , Ghaffari, Sahar , Giannoulatou, Eleni , Koelling, Nils , Maher, Geoffrey J. , Thibaut, Loïc M. , Williams, Jonathan , Blair, Edward M. , Kelly, Fiona Blanco , Bloss, Angela , Burkitt-Wright, Emma , Canham, Natalie , Deng, Alexander T. , Dixit, Abhijit , Eason, Jacqueline , Elmslie, Frances , Gardham, Alice , Hay, Eleanor , Holder, Muriel , Homfray, Tessa , Hurst, Jane A. , Johnson, Diana , Jones, Wendy D. , Kini, Usha , Kivuva, Emma , Kumar, Ajith , Lees, Melissa M. , Leitch, Harry G. , Morton, Jenny E. V. , Németh, Andrea H. , Ramachandrappa, Shwetha , Saunders, Katherine , Shears, Deborah J. , Side, Lucy , Splitt, Miranda , Stewart, Alison , Stewart, Helen , Suri, Mohnish , Clouston, Penny , Davies, Robert W. , Wilkie, Andrew O. M. and Goriely, Anne
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
Following the diagnosis of a paediatric disorder caused by an apparently de novo mutation, a recurrence risk of 1–2% is frequently quoted due to the possibility of parental germline mosaicism; but for any specific couple, this figure is usually incorrect. We present a systematic approach to providing individualized recurrence risk. By combining loc...
Alternative Titles
Full title
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Authors, Artists and Contributors
Author / Creator
Abdullah, Ummi B.
Bush, Stephen J.
Wood, Katherine A.
Ghaffari, Sahar
Giannoulatou, Eleni
Koelling, Nils
Maher, Geoffrey J.
Thibaut, Loïc M.
Williams, Jonathan
Blair, Edward M.
Kelly, Fiona Blanco
Bloss, Angela
Burkitt-Wright, Emma
Canham, Natalie
Deng, Alexander T.
Dixit, Abhijit
Eason, Jacqueline
Elmslie, Frances
Gardham, Alice
Hay, Eleanor
Holder, Muriel
Homfray, Tessa
Hurst, Jane A.
Johnson, Diana
Jones, Wendy D.
Kini, Usha
Kivuva, Emma
Kumar, Ajith
Lees, Melissa M.
Leitch, Harry G.
Morton, Jenny E. V.
Németh, Andrea H.
Ramachandrappa, Shwetha
Saunders, Katherine
Shears, Deborah J.
Side, Lucy
Splitt, Miranda
Stewart, Alison
Stewart, Helen
Suri, Mohnish
Clouston, Penny
Davies, Robert W.
Wilkie, Andrew O. M.
Goriely, Anne
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_092225fc6615446f96c5855f1911ddee
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_092225fc6615446f96c5855f1911ddee
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-023-36606-w
