Patrick L. M. Huygen - Department of Otorhinolaryngology, Head and Neck Surgery, Radboud University Nijmegen Medical Centre

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Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

Sybren M. M. Robijn,Jeroen J. Smits, Kadriye Sezer,Patrick L. M. Huygen,Andy J. Beynon,Erwin van Wijk,Hannie Kremer,Erik de Vrieze,Cornelis P. Lanting,Ronald J. E. Pennings

BIOMOLECULESno. 2 (2022)

引用8浏览0WOS引用

AudioGene: Refining the Natural History of KCNQ4, GSDME, WFS1, and COCH-associated Hearing Loss

Thorpe Ryan K.,Walls W. Daniel,Corrigan Rae,Schaefer Amanda,Wang Kai,Huygen Patrick,Casavant Thomas L.,Smith Richard J. H.

Human Geneticsno. 3-4 (2022): 877-887

引用8浏览0WOS引用

Identification and Molecular Modelling of a Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)

Mirjam W. J. Luijendijk,Erwin van Wijk,Anne M. L. C. Bischoff,Elmar Krieger,Patrick L. M. Huygen,Ronald J. E. Pennings,Han G. Brunner,Cor W. R. J. Cremers,Frans P. M. Cremers,Hannie Kremer

PLoS ONE（2021）

引用51浏览0WOS引用

Insights into the Pathophysiology of DFNA10 Hearing Loss Associated with Novel EYA4 Variants

Matias Morín, Lucía Borreguero,Kevin T Booth,María Lachgar,Patrick Huygen,Manuela Villamar,Fernando Mayo,Luis Carlos Barrio,Luciana Santos Serrão de Castro, Carmelo Morales,Ignacio del Castillo,Beatriz Arellano,Dolores Tellería,Richard J. H. Smith,Hela Azaiez,M. A. Moreno Pelayo

Scientific reports（2020）

引用18浏览0WOSNATURE引用

A Novel COCH Mutation Affects the Vwfa2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

Jeroen J. Smits,Eline van Beelen,Nicole J. D. Weegerink,Jaap Oostrik,Patrick L. M. Huygen,Andy J. Beynon,Cornelis P. Lanting,Henricus P. M. Kunst,Margit Schraders,Hannie Kremer,Erik de Vrieze,Ronald J. E. Pennings

Otology & Neurotology（2020）

引用3浏览0WOS引用

Splice-altering Variant in COL11A1 As a Cause of Nonsyndromic Hearing Loss DFNA37

Kevin T. Booth,James W. Askew,Zohreh Talebizadeh,Patrick L. M. Huygen,James Eudy, Judith Kenyon,Denise Hoover,Michael S. Hildebrand,Katherine R. Smith,Melanie Bahlo,William J. Kimberling,Richard J. H. Smith,Hela Azaiez,Shelley D. Smith

Genetics in Medicine (2018): 948-954

引用41浏览0WOS引用

A Combination of Two Truncating Mutations in Ush2a Causes More Severe and Progressive Hearing Impairment in Usher Syndrome Type Iia

Bas P. Hartel, Maria Lofgren,Patrick L. M. Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort,Andre M. Sadeghi,Erwin Van Wijki,Lisbeth Tranebjaerg,Hannie Kremer,William J. Kimberling,Cor W. R. J. Cremers,Claes Moller,Ronald J. E. Pennings

HEARING RESEARCH（2016）

引用50浏览0WOS引用

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients with MYH9-Related Disease

Eva J. J. Verver,Vedat Topsakal,Henricus P. M. Kunst,Patrick L. M. Huygen,Paula G. Heller,Nuria Pujol-Moix,Anna Savoia,Marco Benazzo,Tiziana Fierro,Wilko Grolman,Paolo Gresele,Alessandro Pecci

Ear and Hearing（2015）

引用34浏览0WOS引用

HOMER2, a Stereociliary Scaffolding Protein, is Essential for Normal Hearing in Humans and Mice

Hela Azaiez,Amanda R. Decker,Kevin T. Booth,Allen C. Simpson,A. Eliot Shearer,Patrick L. M. Huygen,Fengxiao Bu,Michael S. Hildebrand,Paul T. Ranum,Seiji B. Shibata, Ann Turner,Yuzhou Zhang,William J. Kimberling,Robert A. Cornell,Richard J. H. Smith

PLoS Genetics（2015）

引用48浏览0WOS引用

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