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

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

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

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

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

by Hogewind, Barend F.T., Pennings, Ronald J.E., Hol, Frans A., Kunst, Henricus P.M., Hoefsloot, Elisabeth H., Cruysberg, Johannes R.M., Cremers, Cor W.R.J.
Published 2010

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

by 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.
Published in Audiol Neurootol (2016)

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

by 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 2010

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

by Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.
Published in Am J Hum Genet (2015)

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

by 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
Published in Eur J Hum Genet (2015)

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

by 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 2011

Similar phenotypes caused by mutations in OTOG and OTOGL

by 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.
Published 2014

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

by Bespalova, Irina N., Van Camp, Guy, Bom, Steven J.H., Brown, David J., Cryns, Kim, DeWan, Andrew T., Erson, Ayse E., Flothmann, Kris, Kunst, Henricus P.M., Kurnool, Purnima, Sivakumaran, Theru A., Cremers, Cor W.R.J., Leal, Suzanne M., Burmeister, Margit, Lesperance, Marci M.
Published in Hum Mol Genet (2001)

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

by 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 2010

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors

by Hoekstra, Attje S., de Graaff, Marieke A., Briaire-de Bruijn, Inge H., Ras, Cor, Seifar, Reza Maleki, van Minderhout, Ivonne, Cornelisse, Cees J., Hogendoorn, Pancras C.W., Breuning, Martijn H., Suijker, Johnny, Korpershoek, Esther, Kunst, Henricus P.M., Frizzell, Norma, Devilee, Peter, Bayley, Jean-Pierre, Bovée, Judith V.M.G.
Published in Oncotarget (2015)

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

by Hoekstra, Attje S., Hensen, Erik F., Jordanova, Ekaterina S., Korpershoek, Esther, Anouk N.A., van der Horst-Schrivers, Cornelisse, Cees, Corssmit, Eleonora P.M., Hes, Frederik J., Jansen, Jeroen C., Kunst, Henricus P.M., Timmers, Henri J.L.M., Bateman, Adrian, Eccles, Diana, Bovée, Judith V.M.G., Devilee, Peter, Bayley, Jean-Pierre
Published in Oncotarget (2017)

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

by 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
Published 2012

Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers

by Rijken, Johannes A., van Hulsteijn, Leonie T., Dekkers, Olaf M., Niemeijer, Nicolasine D., Leemans, C. René, Eijkelenkamp, Karin, van der Horst-Schrivers, Anouk N.A., Kerstens, Michiel N., van Berkel, Anouk, Timmers, Henri J.L.M., Kunst, Henricus P.M., Bisschop, Peter H.L.T., Dreijerink, Koen M.A., van Dooren, Marieke F., Hes, Frederik J., Jansen, Jeroen C., Corssmit, Eleonora P.M., Hensen, Erik F.
Published in Cancers (Basel) (2019)

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

by Wesdorp, Mieke, Murillo-Cuesta, Silvia, Peters, Theo, Celaya, Adelaida M., Oonk, Anne, Schraders, Margit, Oostrik, Jaap, Gomez-Rosas, Elena, Beynon, Andy J., Hartel, Bas P., Okkersen, Kees, Koenen, Hans J.P.M., Weeda, Jack, Lelieveld, Stefan, Voermans, Nicol C., Joosten, Irma, Hoyng, Carel B., Lichtner, Peter, Kunst, Henricus P.M., Feenstra, Ilse, de Bruijn, Suzanne E., Admiraal, Ronald J.C., Yntema, Helger G., van Wijk, Erwin, del Castillo, Ignacio, Serra, Pau, Varela-Nieto, Isabel, Pennings, Ronald J.E., Kremer, Hannie
Published in Am J Hum Genet (2018)

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

by 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
Published in Am J Hum Genet (2015)

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

by 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
Published in Eur J Hum Genet (2017)