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

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

Phenotypic Characterization of DFNA24 : Prelingual Progressive Sensorineural Hearing Impairment

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

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

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

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus

Por Hildebrand, Michael S., Tack, Dylan, McMordie, Sarah J., DeLuca, Adam, Hur, In Ae, Nishimura, Carla, Huygen, Patrick, Casavant, Thomas L., Smith, Richard J.H.
Publicado em 2008

TBC1D24 Mutation Causes Autosomal Dominant Non-Syndromic Hearing Loss

Por Azaiez, Hela, Booth, Kevin T., Bu, Fengxiao, Huygen, Patrick, Shibata, Seiji, Shearer, A. Eliot, Kolbe, Diana, Meyer, Nicole, Black-Ziegelbein, E. Ann, Smith, Richard J.H.
Publicado no Hum Mutat (2014)

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

Por 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
Publicado em 2010

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

Por 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.
Publicado em 2009

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

Por 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
Publicado em 2010

Using the Phenome and Genome to Improve Genetic Diagnosis for Deafness

Por Eppsteiner, Robert W., Shearer, A. Eliot, Hildebrand, Michael S., Taylor, Kyle R., DeLuca, Adam P., Scherer, Steve, Huygen, Patrick, Scheetz, Todd E., Braun, Terry A., Casavant, Thomas L., Smith, Richard J. H.
Publicado em 2012

Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding

Por Collin, Rob W.J., Chellappa, Ramesh, Pauw, Robert-Jan, Vriend, Gert, Oostrik, Jaap, van Drunen, Wendy, Huygen, Patrick L., Admiraal, Ronald, Hoefsloot, Lies H., Cremers, Frans P.M., Xiang, Mengqing, Cremers, Cor W.R.J., Kremer, Hannie
Publicado em 2008

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

Por 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
Publicado em 2011

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

Por 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.
Publicado em 2009

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

Por 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.
Publicado no PLoS Genet (2015)

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

Por 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.
Publicado em 2011

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

Por 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.
Publicado em 2013

Similar phenotypes caused by mutations in OTOG and OTOGL

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2010

Audioprofile Surfaces: the 21(st) Century Audiogram

Por 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.
Publicado no Ann Otol Rhinol Laryngol (2015)

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

Por 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.
Publicado em 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...

Por 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
Publicado em 2008