The PREGCARE Study: Personalized Recurrence Risk Assessment Following the Birth of a Child with a Pathogenic De Novo Mutation
Marie Bernkopf, Ummi B. Abdullah, Stephen J. Bush,Katherine Wood, Sahar Ghaffari,Eleni Giannoulatou, Nils Koelling, Geoffrey J. Maher, Loïc M. Thibault,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 openalex（2022）
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Pathogenicity Prediction,Exome Sequencing
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