Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Published in American journal of human genetics (13.05.2011)
Published in American journal of human genetics (13.05.2011)
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Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L.M., Strom, Tim M., van Wijk, Erwin, Kunst, Henricus P.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Admiraal, Ronald J.C., Kremer, Hannie
Published in American journal of human genetics (09.04.2010)
Published in American journal of human genetics (09.04.2010)
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AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening
Taylor, Kyle R., DeLuca, Adam P., Shearer, A. Eliot, Hildebrand, Michael S., Black-Ziegelbein, E. Ann, Anand, V. Nikhil, Sloan, Christina M., Eppsteiner, Robert W., Scheetz, Todd E., Huygen, Patrick L. M., Smith, Richard J. H., Braun, Terry A., Casavant, Thomas L.
Published in Human mutation (01.04.2013)
Published in Human mutation (01.04.2013)
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie
Published in American journal of human genetics (12.02.2010)
Published in American journal of human genetics (12.02.2010)
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A novel mutation in COCH-implications for genotype-phenotype correlations in DFNA9 hearing loss
Hildebrand, Michael S, Gandolfo, Luke, Shearer, A Eliot, Webster, Jennifer A, Jensen, Maren, Kimberling, William J, Stephan, Dietrich, Huygen, Patrick L M, Smith, Richard J H, Bahlo, Melanie
Published in The Laryngoscope (01.12.2010)
Published in The Laryngoscope (01.12.2010)
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Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1
de Heer, Anne-Martine R., Collin, Rob W.J., Huygen, Patrick L.M., Schraders, Margit, Oostrik, Jaap, Rouwette, Myrthe, Kunst, Henricus P.M., Kremer, Hannie, Cremers, Cor W.R.J.
Published in Audiology & neurotology (01.01.2011)
Published in Audiology & neurotology (01.01.2011)
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HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice
Azaiez, Hela, Decker, Amanda R, Booth, Kevin T, Simpson, Allen C, Shearer, A Eliot, Huygen, Patrick L M, Bu, Fengxiao, Hildebrand, Michael S, Ranum, Paul T, Shibata, Seiji B, Turner, Ann, Zhang, Yuzhou, Kimberling, William J, Cornell, Robert A, Smith, Richard J H
Published in PLoS genetics (01.03.2015)
Published in PLoS genetics (01.03.2015)
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Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis
Robijn, Sybren M M, Smits, Jeroen J, Sezer, Kadriye, Huygen, Patrick L M, Beynon, Andy J, van Wijk, Erwin, Kremer, Hannie, de Vrieze, Erik, Lanting, Cornelis P, Pennings, Ronald J E
Published in Biomolecules (Basel, Switzerland) (27.01.2022)
Published in Biomolecules (Basel, Switzerland) (27.01.2022)
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Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.
Published in Journal of the Association for Research in Otolaryngology (01.12.2011)
Published in Journal of the Association for Research in Otolaryngology (01.12.2011)
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Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study
Fransen, Erik, Topsakal, Vedat, Hendrickx, Jan-Jaap, Van Laer, Lut, Huyghe, Jeroen R., Van Eyken, Els, Lemkens, Nele, Hannula, Samuli, Mäki-Torkko, Elina, Jensen, Mona, Demeester, Kelly, Tropitzsch, Anke, Bonaconsa, Amanda, Mazzoli, Manuela, Espeso, Angeles, Verbruggen, Katia, Huyghe, Joke, Huygen, Patrick L. M., Kunst, Sylvia, Manninen, Minna, Diaz-Lacava, Amalia, Steffens, Michael, Wienker, Thomas F., Pyykkö, Ilmari, Cremers, Cor W. R. J., Kremer, Hannie, Dhooge, Ingeborg, Stephens, Dafydd, Orzan, Eva, Pfister, Markus, Bille, Michael, Parving, Agnete, Sorri, Martti, Van de Heyning, Paul, Van Camp, Guy
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
Published in Journal of the Association for Research in Otolaryngology (01.09.2008)
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Nijmegen Results with Application of a Bone-Anchored Hearing Aid in Children: Simplified Surgical Technique
de Wolf, Maarten J. F., Hol, Myrthe K. S., Huygen, Patrick L. M., Mylanus, Emmanuel A. M., Cremers, W. R. J.
Published in Annals of otology, rhinology & laryngology (01.11.2008)
Published in Annals of otology, rhinology & laryngology (01.11.2008)
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A contemporary review of AudioGene audioprofiling: a machine-based candidate gene prediction tool for autosomal dominant nonsyndromic hearing loss
Hildebrand, Michael S, DeLuca, Adam P, Taylor, Kyle R, Hoskinson, David P, Hur, In Ae, Tack, Dylan, McMordie, Sarah J, Huygen, Patrick L M, Casavant, Thomas L, Smith, Richard J H
Published in The Laryngoscope (01.11.2009)
Published in The Laryngoscope (01.11.2009)
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Mutations in TMC1 are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population
Hildebrand, Michael S., Kahrizi, Kimia, Bromhead, Catherine J., Shearer, A. Eliot, Webster, Jennifer A., Khodaei, Hossein, Abtahi, Rezvan, Bazazzadegan, Niloofar, Babanejad, Mojgan, Nikzat, Nooshin, Kimberling, William J., Stephan, Dietrich, Huygen, Patrick L. M., Bahlo, Melanie, Smith, Richard J. H., Najmabadi, Hossein
Published in Annals of otology, rhinology & laryngology (01.12.2010)
Published in Annals of otology, rhinology & laryngology (01.12.2010)
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Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction
Robertson, Nahid G., Cremers, Cor W.R.J., Huygen, Patrick L.M., Ikezono, Tetsuo, Krastins, Bryan, Kremer, Hannie, Kuo, Sharon F., Liberman, M. Charles, Merchant, Saumil N., Miller, Constance E., Nadol, Joseph B., Sarracino, David A., Verhagen, Wim I.M., Morton, Cynthia C.
Published in Human molecular genetics (01.04.2006)
Published in Human molecular genetics (01.04.2006)
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Journal Article
Phenotype of the first otosclerosis family linked to OTSC10
Weegerink, Nicole J D, Schrauwen, Isabelle, Huygen, Patrick L M, Pennings, Ronald J E, Cremers, Cor W R J, Van Camp, Guy, Kunst, Henricus P M
Published in The Laryngoscope (01.04.2011)
Published in The Laryngoscope (01.04.2011)
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Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family
de Heer, Anne-Martine R., Schraders, Margit, Jaap, Oostrik, Hoefsloot, Lies, Huygen, Patrick L. M., Cremers, W. R. J.
Published in Annals of otology, rhinology & laryngology (01.04.2011)
Published in Annals of otology, rhinology & laryngology (01.04.2011)
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