Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome

Further delineation of Malan syndrome

(2018) Manuela Priolo et al.   HUMAN MUTATION

Multiple transmissions of de novo mutations in families

(2018) Hákon Jónsson et al.   NATURE GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Germline Stem Cell Competition, Mutation Hot Spots, Genetic Disorders, and Older Fathers

(2016) Norman Arnheim et al.   Annual Review of Genomics and Human Genetics

Mosaicism in health and disease — clones picking up speed

(2016) Lars A. Forsberg et al.   NATURE REVIEWS GENETICS

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

(2015) Julia Lauer Zillhardt et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Timing, rates and spectra of human germline mutation

(2015) Raheleh Rahbari et al.   NATURE GENETICS

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome

(2010) Valérie Malan et al.   AMERICAN JOURNAL OF HUMAN GENETICS