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

Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki, +15

The American Journal of Human Genetics

Autosomal-recessive Hearing ImpairmentDevelopmental BiologyHealth SciencesGenetic DisorderGenetics +12

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

Ilham Ratbi, Kim D. Falkenberg, Manou Sommen, +27

The American Journal of Human Genetics

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

Manou Sommen, Isabelle Schrauwen, Geert Vandeweyer, +17

Human Mutation

Cnv AnalysisSyndromic Hearing LossGeneticsMolecular BiologyPathology +19

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

Isabelle Schrauwen, Manou Sommen, Jason J. Corneveaux, +8

American Journal of Medical Genetics Part A

Osmotic stress inhibits leaf growth of <i>Arabidopsis thaliana</i> by enhancing ARF‐mediated auxin responses

Shweta Kalve, Bulelani L. Sizani, Marios Nektarios Markakis, +8

New Phytologist

Broadening the phenotype of <scp>LRP2</scp> mutations: a new mutation in <scp>LRP2</scp> causes a predominantly ocular phenotype suggestive of Stickler syndrome

Isabelle Schrauwen, Manou Sommen, Charlotte Claes, +4

Clinical Genetics

Ocular DiseaseGeneticsPathologyDisease Gene IdentificationGenomics +14

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, +27

Genetics in Medicine

Bone DiseaseDevelopmental BiologyDistinct Bone DisordersBone Morphogenic ProteinCraniofacial Disorder +8

Genetic Association Analysis in a Clinically and Histologically Confirmed Otosclerosis Population Confirms Association With the TGFB1 Gene but Suggests an Association of the RELN Gene With a Clinically Indistinguishable Otosclerosis-Like Phenotype

Manou Sommen, Guy Van Camp, Balázs Liktor, +5

Otology & Neurotology

Resequencing of candidate genes for Keratoconus reveals a role for Ehlers–Danlos Syndrome genes

Erik Fransén, Hanne Valgaeren, Katleen Janssens, +10

European Journal of Human Genetics

Candidate GenesEhlers–danlos Syndrome GenesGenetic DisorderGeneticsGene Characterization +7

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children

An Boudewyns, Jenneke van den Ende, Manou Sommen, +4

Otology & Neurotology