Penetrance, variable expressivity and monogenic neurodevelopmental disorders-Reference-Cited by-同舟云学术

Penetrance, variable expressivity and monogenic neurodevelopmental disorders

Published:2024-06 Issue: Volume:69 Page:104932
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

de Masfrand Servane,Cogné Benjamin,Nizon Mathilde,Deb Wallid,Goldenberg Alice,Lecoquierre François,Nicolas Gaël,Bournez Marie,Vitobello Antonio,Mau-Them Frédéric Tran,le Guyader Gwenaël,Bilan Frédéric,Bauer Peter,Zweier Christiane,Piard Juliette,Pasquier Laurent,Bézieau Stéphane,Gerard Bénédicte,Faivre Laurence,Saugier-Veber Pascale,Piton Amélie,Isidor Bertrand

Publisher

Elsevier BV

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1. Substantial role of rare inherited variation in individuals with developmental disorders;2024-08-29

2. Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database;2024-06-13