Isabelle Schrauwen

Delineating the <i>GRIN1</i> phenotypic spectrum

Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig et al. · Neurology · 2016 · 202 citations · Full text

Variants in triggering receptor expressed on myeloid cells 2 are associated with both behavioral variant frontotemporal lobar degeneration and Alzheimer's disease

Margarita Giraldo, Francisco Lopera, Ashley L. Siniard et al. · Neurobiology of Aging · 2013 · 144 citations · Full text

Alzheimer's Disease, Genetics, Degenerative Disease +6

A Mutation in CABP2 , Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment

Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki et al. · The American Journal of Human Genetics · 2012 · 134 citations · Full text

Autosomal-recessive Hearing Impairment, Developmental Biology, Health Sciences +14

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer et al. · Human Mutation · 2016 · 108 citations

Cnv Analysis, Syndromic Hearing Loss, Genetics +21

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

Erik Fransén, Sarah Bonneux, Jason J. Corneveaux et al. · European Journal of Human Genetics · 2014 · 102 citations · Full text

Genome-wide Association Study, Polygenic Character, Genetics +13