학술논문
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation
Document Type
article
Author
Marie Bernkopf; Ummi B. Abdullah; Stephen J. Bush; Katherine A. Wood; Sahar Ghaffari; Eleni Giannoulatou; Nils Koelling; Geoffrey J. Maher; Loïc M. Thibaut; Jonathan Williams; Edward M. Blair; Fiona Blanco Kelly; Angela Bloss; Emma Burkitt-Wright; Natalie Canham; Alexander T. Deng; Abhijit Dixit; Jacqueline Eason; Frances Elmslie; Alice Gardham; Eleanor Hay; Muriel Holder; Tessa Homfray; Jane A. Hurst; Diana Johnson; Wendy D. Jones; Usha Kini; Emma Kivuva; Ajith Kumar; Melissa M. Lees; Harry G. Leitch; Jenny E. V. Morton; Andrea H. Németh; Shwetha Ramachandrappa; Katherine Saunders; Deborah J. Shears; Lucy Side; Miranda Splitt; Alison Stewart; Helen Stewart; Mohnish Suri; Penny Clouston; Robert W. Davies; Andrew O. M. Wilkie; Anne Goriely
Source
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
Subject
Language
English
ISSN
2041-1723
Abstract
PREGCARE is a new strategy for families who had a child with a pathogenic de novo mutation, that efficiently identifies couples at higher recurrence risk due to parental mosaicism, while reassuring many others that their recurrence risk is negligible.