Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

Por van Nierop, Josephine W.I., Snabel, Rebecca R., Langereis, Margreet, Pennings, Ronald J.E., Admiraal, Ronald J.C., Mylanus, Emmanuel A.M., Kunst, Henricus P.M.
Publicado no Audiol Neurootol (2016)

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

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

Por Li, Yun, Pohl, Esther, Boulouiz, Redouane, Schraders, Margit, Nürnberg, Gudrun, Charif, Majida, Admiraal, Ronald J.C., von Ameln, Simon, Baessmann, Ingelore, Kandil, Mostafa, Veltman, Joris A., Nürnberg, Peter, Kubisch, Christian, Barakat, Abdelhamid, Kremer, Hannie, Wollnik, Bernd
Publicado em 2010

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

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Por Seco, Celia Zazo, Oonk, Anne MM, Domínguez-Ruiz, María, Draaisma, Jos MT, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus PM, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald JE, Kremer, Hannie, Admiraal, Ronald JC, Schraders, Margit
Publicado no Eur J Hum Genet (2015)

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Por Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.
Publicado em 2011

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

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Por Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S., Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C., Neely, Harold R., Latoche, Joseph R., Smith, Richard J. H., Northup, John K., Kremer, Hannie, Holt, Jeffrey R., Noben-Trauth, Konrad
Publicado em 2011

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

Definition of a Critical Region on Chromosome 18 for Congenital Aural Atresia by ArrayCGH

Por Veltman, Joris A., Jonkers, Yvonne, Nuijten, Inge, Janssen, Irene, van der Vliet, Walter, Huys, Erik, Vermeesch, Joris, Van Buggenhout, Griet, Fryns, Jean-Pierre, Admiraal, Ronald, Terhal, Paulien, Lacombe, Didier, van Kessel, Ad Geurts, Smeets, Dominique, Schoenmakers, Eric F. P. M., van Ravenswaaij-Arts, Conny M.
Publicado em 2003

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

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Por Seco, Celia Zazo, Giese, Arnaud P, Shafique, Sobia, Schraders, Margit, Oonk, Anne M M, Grossheim, Mike, Oostrik, Jaap, Strom, Tim, Hegde, Rashmi, van Wijk, Erwin, Frolenkov, Gregory I, Azam, Maleeha, Yntema, Helger G, Free, Rolien H, Riazuddin, Saima, Verheij, Joke B G M, Admiraal, Ronald J, Qamar, Raheel, Ahmed, Zubair M, Kremer, Hannie
Publicado no Eur J Hum Genet (2016)

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Por Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J., Sezgin, Orhan, Beynon, Andy J., Strom, Tim M., Pennings, Ronald J.E., Seco, Celia Zazo, Oonk, Anne M.M., Kunst, Henricus P.M., Domínguez-Ruiz, María, García-Arumi, Ana M., del Campo, Miguel, Villamar, Manuela, Hoefsloot, Lies H., Moreno, Felipe, Admiraal, Ronald J.C., del Castillo, Ignacio, Kremer, Hannie
Publicado em 2012

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

Por 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
Publicado no Am J Hum Genet (2015)

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Por Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Publicado no Eur J Hum Genet (2017)