P.L.M. Huygen

Radboud University Nijmegen — Netherlands

Neuroscience · Life Sciences

47h-index8.1kcitations291works0.02yr avg
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Research Topics

Hearing, Cochlea, Tinnitus, Genetics(134), Vestibular and auditory disorders(105), Hearing Loss and Rehabilitation(44), Ear Surgery and Otitis Media(41), Neuroscience of respiration and sleep(19)

Publications290 total

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Biomolecules·2022· 10 citedOpen Access
A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype
Otology & Neurotology·2020· 3 cited
Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants
Scientific Reports·2020· 84 citedOpen Access
Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal
Otology & Neurotology·2019· 2 cited
Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37
Genetics in Medicine·2018· 53 citedOpen Access
A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa
Hearing Research·2016· 63 cited
Audioprofile Surfaces
Annals of Otology Rhinology & Laryngology·2015· 9 citedOpen Access
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
The American Journal of Human Genetics·2015· 73 citedOpen Access
Features of autosomal recessive non‐syndromic hearing impairment: a review to serve as a reference
Clinical Otolaryngology·2015· 11 cited
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment
Ear and Hearing·2015· 25 cited
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease
Ear and Hearing·2015· 36 cited
Computer Simulation of Eye Movements for Teaching and Training in Ocular Motor Pathology
Advances in oto-rhino-laryngology·2015· 1 cited
Familial Head Movement Dependent Oscillopsia
Advances in oto-rhino-laryngology·2015
Vestibular Hyperreactivity in Patients with Multiple Sclerosis
Advances in oto-rhino-laryngology·2015· 24 cited
Vestibular and Ocular Motor Manifestations of Cerebellopontine Angle Tumours
Advances in oto-rhino-laryngology·2015· 4 cited
HOMER2, a Stereociliary Scaffolding Protein, Is Essential for Normal Hearing in Humans and Mice
PLoS Genetics·2015· 62 citedOpen Access
Details from a Distance? A Dutch pipeline for event detection
Computational Linguistics in the Netherlands·2015
Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment
Otology & Neurotology·2014· 18 cited
Intrafamilial Variable Hearing Loss in <i>TRPV4</i> Induced Spinal Muscular Atrophy
Annals of Otology Rhinology & Laryngology·2014· 10 cited
Contents
Human Mutation·2014Open Access
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Frequent Co-authors

Cor W. R. J. Cremers(30), Hannie Kremer(19), Guy Van Camp(13), Lies H. Hoefsloot(10), R.J.C. Admiraal(10), Richard J. Smith(8), Ronald J. E. Pennings(8), Paul Van de Heyning(7), Erik Fransén(6), Jaap Oostrik(6), Henricus P. M. Kunst(6), Frans P.M. Cremers(6), William J. Kimberling(6), Eva Orzan(5), Markus Pfister(5), Agnete Parving(5), W. I. M. Verhagen(5), Margit Schraders(5), Vedat Topsakal(4), Jan Hendrickx(4)