Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

von Plantinga, Rutger F., Cremers, Cor W.R.J., Huygen, Patrick L.M., Kunst, Henricus P.M., Bosman, Arjan J.
Veröffentlicht 2006

Phenotypic Characterization of DFNA24 : Prelingual Progressive Sensorineural Hearing Impairment

von Santos, Regie Lyn P., Häfner, Franziska M., Huygen, Patrick L.M., Linder, Thomas E., Schinzel, Albert A., Spillmann, Thomas, Leal, Suzanne M.
Veröffentlicht 2006

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

von Plantinga, Rutger F., de Brouwer, Arjan P.M., Huygen, Patrick L.M., Kunst, Henricus P.M., Kremer, Hannie, Cremers, Cor W.R.J.
Veröffentlicht 2006

A Novel Mutation in COCH – Implications for Genotype-Phenotype Correlations in DFNA9 Hearing Loss

von 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
Veröffentlicht 2010

AudioGene Audioprofiling: A Machine-based Candidate Gene Prediction Tool for Autosomal Dominant Non-syndromic Hearing Loss

von 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.
Veröffentlicht 2009

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

von 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
Veröffentlicht 2010

Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

von Booth, Kevin T., Askew, James W., Talebizadeh, Zohreh, Huygen, Patrick L. M., Eudy, James, Kenyon, Judith, Hoover, Denise, Hildebrand, Michael S., Smith, Katherine R., Bahlo, Melanie, Kimberling, William J., Smith, Richard J. H., Azaiez, Hela, Smith, Shelley D.
Veröffentlicht in Genet Med (2018)

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

von 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
Veröffentlicht 2011

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

von Hildebrand, Michael S., Tack, Dylan, DeLuca, Adam, Hur, In Ae, Rybroek, Jana Van M., McMordie, Sarah J., Muilenburg, Ann, Hoskinson, David, Van Camp, Guy, Pensak, Myles L., Storper, Ian S., Huygen, Patrick L.M., Casavant, Thomas L., Smith, Richard J.H.
Veröffentlicht 2009

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

von 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.
Veröffentlicht in PLoS Genet (2015)

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

von 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.
Veröffentlicht 2011

AudioGene: Predicting Hearing Loss Genotypes from Phenotypes to Guide Genetic Screening

von 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.
Veröffentlicht 2013

Similar phenotypes caused by mutations in OTOG and OTOGL

von Oonk, Anne M.M., Leijendeckers, Joop M., Huygen, Patrick L.M., Schraders, Margit, del Campo, Miguel, del Castillo, Ignacio, Tekin, Mustafa, Feenstra, Ilse, Beynon, Andy J., Kunst, Henricus P.M., Snik, Ad F.M., Kremer, Hannie, Admiraal, Ronald J.C., Pennings, Ronald J.E.
Veröffentlicht 2014

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

von 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
Veröffentlicht 2010

Audioprofile Surfaces: the 21(st) Century Audiogram

von Taylor, Kyle R., Booth, Kevin T., Azaiez, Hela, Sloan, Christina M., Kolbe, Diana L., Glanz, Emily N., Shearer, A. Eliot, DeLuca, Adam P., Anand, V. Nikhil, Hildebrand, Michael S., Simpson, Allen C., Eppsteiner, Robert W., Scheetz, Todd E., Braun, Terry A., Huygen, Patrick L. M., Smith, Richard J. H., Casavant, Thomas L.
Veröffentlicht in Ann Otol Rhinol Laryngol (2015)

DFNA8/12 Caused by TECTA Mutations is the Most Identified Subtype of Non-syndromic Autosomal Dominant Hearing Loss

von Hildebrand, Michael S., Morín, Matías, Meyer, Nicole C., Mayo, Fernando, Modamio-Hoybjor, Silvia, Mencía, Angeles, Olavarrieta, Leticia, Morales-Angulo, Carmelo, Nishimura, Carla J., Workman, Heather, DeLuca, Adam P., del Castillo, Ignacio, Taylor, Kyle R., Tompkins, Bruce, Goodman, Corey W., Schrauwen, Isabelle, Van Wesemael, Maarten, Lachlan, K., Shearer, A. Eliot, Braun, Terry A., Huygen, Patrick L.M., Kremer, Hannie, Van Camp, Guy, Moreno, Felipe, Casavant, Thomas L., Smith, Richard J.H., Moreno-Pelayo, Miguel A.
Veröffentlicht 2011

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-ba...

von 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
Veröffentlicht 2008

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

von Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie
Veröffentlicht in Am J Hum Genet (2015)

GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study

von Snoeckx, Rikkert L., Huygen, Patrick L. M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W. R. J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J. H., Van Camp, Guy
Veröffentlicht 2005