Heinz Gabriel

Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations

Pauline Krug, Vincent Morinière, Sandrine Marlin et al. · Human Mutation · 2010 · 112 citations · Full text

Genetics, Six5 Genes, Genetic Epidemiology +17

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population

Heinz Gabriel, Petra Kupsch, J�rgen Sudendey et al. · Human Mutation · 2001 · 94 citations

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor et al. · The American Journal of Human Genetics · 2020 · 59 citations · Full text

Trio exome sequencing is highly relevant in prenatal diagnostics

Heinz Gabriel, Dirk Korinth, M Ritthaler et al. · Prenatal Diagnosis · 2021 · 57 citations · Full text