Publications by authors named "Patrick Huygen"

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AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss.
Ryan K Thorpe, W Daniel Walls, Rae Corrigan, Amanda Schaefer, Kai Wang, Patrick Huygen

Hum Genet· April 2022

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Genotype-Phenotype Correlations of Pathogenic 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

Biomolecules· January 2022

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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

Otol Neurotol· April 2021

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Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants.
Matias Morín, Lucía Borreguero, Kevin T Booth, María Lachgar, Patrick Huygen

Sci Rep· April 2020

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Hearing Results of Surgery for Acquired Atresia of the External Auditory Canal.
Joost J A Stultiens, Patrick L M Huygen, Anne M M Oonk, Emmanuel A M Mylanus, Henricus P M Kunst

Otol Neurotol· June 2019

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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

Genet Med· April 2019

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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

Ear Hear· September 2016

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Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
Eline van Beelen, Anne M M Oonk, Joop M Leijendeckers, Elisabeth H Hoefsloot, Ronald J E Pennings, Patrick L M Huygen

Ear Hear· September 2016

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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.
Bas P Hartel, Maria Löfgren, Patrick L M Huygen, Iris Guchelaar, Nicole Lo-A-Njoe Kort

Hear Res· September 2016

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Audioprofile Surfaces: The 21st Century Audiogram.
Kyle R Taylor, Kevin T Booth, Hela Azaiez, Christina M Sloan, Diana L Kolbe, Patrick L M Huygen

Ann Otol Rhinol Laryngol· May 2016

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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, Matías Morín, Shalini Jhangiani, Patrick L M Huygen

Am J Hum Genet· November 2015

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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

PLoS Genet· March 2015

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Similar phenotypes caused by mutations in OTOG and OTOGL.
Anne M M Oonk, Joop M Leijendeckers, Patrick L M Huygen, Margit Schraders, Miguel del Campo

Ear Hear· February 2015

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Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy.
Anne M M Oonk, Merel S Ekker, Patrick L M Huygen, Henricus P M Kunst, Hannie Kremer

Ann Otol Rhinol Laryngol· December 2014

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Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment.
Eva J J Verver, Kim Freriks, Theo C J Sas, Patrick L M Huygen, Ronald J E Pennings

Otol Neurotol· October 2014

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TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.
Hela Azaiez, Kevin T Booth, Fengxiao Bu, Patrick Huygen, Seiji B Shibata

Hum Mutat· July 2014

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Familial aggregation of pure tone hearing thresholds in an aging European population.
Jan-Jaap Hendrickx, Jeroen R Huyghe, Vedat Topsakal, Kelly Demeester, Thomas F Wienker, Patrick L M Huygen

Otol Neurotol· July 2013

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AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Kyle R Taylor, Adam P Deluca, A Eliot Shearer, Michael S Hildebrand, E Ann Black-Ziegelbein, Patrick L M Huygen

Hum Mutat· April 2013

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Using the phenome and genome to improve genetic diagnosis for deafness.
Robert W Eppsteiner, A Eliot Shearer, Michael S Hildebrand, Kyle R Taylor, Adam P Deluca, Patrick Huygen

Otolaryngol Head Neck Surg· November 2012

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Clinical follow-up and histopathology of the temporal bones in Nathalie syndrome.
Anne-Martine R de Heer, Saumil N Merchant, Janneke A E Kammeraad, Johannes R M Cruysberg, Patrick L M Huygen

Audiol Neurootol· October 2012

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Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
Nicole J D Weegerink, Margit Schraders, Jaap Oostrik, Patrick L M Huygen, Tim M Strom

J Assoc Res Otolaryngol· December 2011

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Optokinetic response in patients with vestibular areflexia.
Patrick L M Huygen, Wim I M Verhagen

J Vestib Res· December 2011

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Phenotype analysis of an Australian DFNA9 family with the 1109N COCH mutation.
Robert J Pauw, Patrick L M Huygen, Gordon M Colditz, Cor W R J Cremers

Ann Otol Rhinol Laryngol· June 2011

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Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.
Margit Schraders, Stefan A Haas, Nicole J D Weegerink, Jaap Oostrik, Hao Hu, Patrick L M Huygen

Am J Hum Genet· May 2011

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Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
Anne-Martine R de Heer, Margit Schraders, Jaap Oostrik, Lies Hoefsloot, Patrick L M Huygen

Ann Otol Rhinol Laryngol· April 2011

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