Nele Hilgert

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann et al. · The American Journal of Human Genetics · 2005 · 551 citations · Full text

Genetic Disorder, Genetics, Audiology +9

A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 Gene

Guy Van Camp, Rikkert L. Snoeckx, Nele Hilgert et al. · The American Journal of Human Genetics · 2006 · 181 citations · Full text

Stickler Syndrome Is, Autoimmune Disease, Mendelian Disorder +10

Mutation analysis of <i>TMC1 </i>identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

Nele Hilgert, Fatemeh Alasti, Nele Dieltjens et al. · Clinical Genetics · 2008 · 64 citations · Full text

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9

Insaf Bel Hadj Ali, Melissa Thys, N. Beltaïef et al. · Human Genetics · 2008 · 60 citations

Genetic Disorder, Genetics, New Locus +6

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Nele Hilgert, Matthew J. Huentelman, Ashley Q. Thorburn et al. · European Journal of Human Genetics · 2008 · 53 citations · Full text

Genetic Analysis, Allelic Variant, Phenotypic Variation +8