Mieke Wesdorp

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra et al. · European Journal of Human Genetics · 2016 · 143 citations · Full text

Bioinformatics, Engineering, Gene Panel +13

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

Celia Zazo Seco, Luciana Serrão de Castro, Josephine W. van Nierop et al. · The American Journal of Human Genetics · 2015 · 73 citations · Full text

Encoding Kit Ligand, Allelic Variant, Mendelian Disorder +10

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

Mieke Wesdorp, Silvia Murillo‐Cuesta, Theo Peters et al. · The American Journal of Human Genetics · 2018 · 48 citations · Full text

Developmental Biology, Molecular Physiology, Molecular Neuroscience +11

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

Mieke Wesdorp, Pia A. M. de Koning Gans, Margit Schraders et al. · Human Genetics · 2018 · 36 citations · Full text

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

Isabelle Schrauwen, Hanne Valgaeren, Laura Tomás‐Roca et al. · Genetics in Medicine · 2018 · 23 citations · Full text

Bone Disease, Developmental Biology, Distinct Bone Disorders +10