Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A
Reurink, Janine, Oostrik, Jaap, Aben, Marco, Ramos, Mariana Guimarães, van Berkel, Emma, Ołdak, Monika, van Wijk, Erwin, Kremer, Hannie, Roosing, Susanne, Cremers, Frans P. M.
Published in International journal of molecular sciences (01.11.2022)
Published in International journal of molecular sciences (01.11.2022)
Get full text
Journal Article
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
SCHRAUWEN, Isabelle, HELFMANN, Sarah, DHEEDENE, Annelies, CLAES, Charlotte, FRANSEN, Erik, HASHEMZADEH CHALESHTORI, Morteza, COUCKE, Paul, LEE, Amy, MOSER, Tobias, VAN CAMP, Guy, INAGAKI, Akira, PREDOEHL, Friederike, AMIN TABATABAIEFAR, Mohammad, MAGDALENA PICHER, Maria, SOMMEN, Manou, ZAZO SECO, Celia, OOSTRIK, Jaap, KREMER, Hannie
Published in American journal of human genetics (05.10.2012)
Published in American journal of human genetics (05.10.2012)
Get full text
Journal Article
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
Shafique, Sobia, Siddiqi, Saima, Schraders, Margit, Oostrik, Jaap, Ayub, Humaira, Bilal, Ammad, Ajmal, Muhammad, Seco, Celia Zazo, Strom, Tim M, Mansoor, Atika, Mazhar, Kehkashan, Shah, Syed Tahir A, Hussain, Alamdar, Azam, Maleeha, Kremer, Hannie, Qamar, Raheel
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
Get full text
Journal Article
Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss
YARIZ, Kemal O, DUMAN, Duygu, OOSTRIK, Jaap, DIAZ-HORTA, Oscar, YOUNG, Juan I, TOKGOZ-YILMAZ, Suna, KONUKSEVEN, Ozlem, SHAHIN, Hashem, HETTERSCHIJT, Lisette, KANAAN, Moien, OONK, Anne M. M, EDWARDS, Yvonne J. K, CELIA ZAZO SECO, HUAWEI LI, ATALAY, Semra, BLANTON, Susan, DESMIDT, Alexandra A, LIU, Xue-Zhong, PENNINGS, Ronald J. E, ZHONGMIN LU, CHEN, Zheng-Yi, KREMER, Hannie, TEKIN, Mustafa, DALLMAN, Julia, MINGQIAN HUANG, PETERS, TheoA, SIRMACI, Asli, NA LU, SCHRADERS, Margit, SKROMNE, Isaac
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
Get full text
Journal Article
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
Get full text
Journal Article
AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9
de Vrieze, Erik, Cañas Martín, Jorge, Peijnenborg, Jolien, Martens, Aniek, Oostrik, Jaap, van den Heuvel, Simone, Neveling, Kornelia, Pennings, Ronald, Kremer, Hannie, van Wijk, Erwin
Published in Molecular therapy. Nucleic acids (04.06.2021)
Published in Molecular therapy. Nucleic acids (04.06.2021)
Get full text
Journal Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases
Reurink, Janine, Dockery, Adrian, Oziębło, Dominika, Farrar, G. Jane, Ołdak, Monika, ten Brink, Jacoline B., Bergen, Arthur A., Rinne, Tuula, Yntema, Helger G., Pennings, Ronald J. E., van den Born, L. Ingeborgh, Aben, Marco, Oostrik, Jaap, Venselaar, Hanka, Plomp, Astrid S., Khan, M. Imran, van Wijk, Erwin, Cremers, Frans P. M., Roosing, Susanne, Kremer, Hannie
Published in International journal of molecular sciences (15.06.2021)
Published in International journal of molecular sciences (15.06.2021)
Get full text
Journal Article
Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie
Published in Human genetics (01.04.2022)
Published in Human genetics (01.04.2022)
Get full text
Journal Article
Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment
SCHRADERS, Margit, RUIZ-PALMERO, Laura, OONK, Anne M. M, KUNST, Henricus P. M, DOMINGUEZ-RUIZ, Maria, GARCIA-ARUMI, Ana M, DEL CAMPO, Miguel, VILLAMAR, Manuela, HOEFSLOOT, Lies H, MORENO, Felipe, ADMIRAAL, Ronald J. C, DEL CASTILLO, Ignacio, KALAY, Ersan, KREMER, Hannie, OOSTRIK, Jaap, DEL CASTILLO, Francisco J, SEZGIN, Orhan, BEYNON, Andy J, STROM, Tim M, PENNINGS, Ronald J. E, CELIA ZAZO SECO
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
Get full text
Journal Article
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family
Siddiqi, Saima, Ismail, Muhammad, Oostrik, Jaap, Munawar, Saba, Mansoor, Atika, Kremer, Hannie, Qamar, Raheel, Schraders, Margit
Published in Journal of human genetics (01.12.2014)
Published in Journal of human genetics (01.12.2014)
Get full text
Journal Article
Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5
Seco, Celia Zazo, Oonk, Anne M M, Domínguez-Ruiz, María, Draaisma, Jos M T, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus P M, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald J E, Kremer, Hannie, Admiraal, Ronald J C, Schraders, Margit
Published in European journal of human genetics : EJHG (01.02.2015)
Published in European journal of human genetics : EJHG (01.02.2015)
Get full text
Journal Article
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
Velde, Hedwig M, Huizenga, Xanne J J, Yntema, Helger G, Haer-Wigman, Lonneke, Beynon, Andy J, Oostrik, Jaap, Pegge, Sjoert A H, Kremer, Hannie, Lanting, Cris P, Pennings, Ronald J E
Published in Genes (10.02.2023)
Published in Genes (10.02.2023)
Get full text
Journal Article
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)
Get full text
Journal Article
Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome
Siddiqi, Saima, Siddiq, Saadat, Mansoor, Atika, Oostrik, Jaap, Ahmad, Nafees, Kazmi, Syed Ali Raza, Kremer, Hannie, Qamar, Raheel, Schraders, Margit
Published in Journal of human genetics (01.12.2013)
Published in Journal of human genetics (01.12.2013)
Get full text
Journal Article
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment
Nyegaard, Mette, Rendtorff, Nanna D, Nielsen, Morten S, Corydon, Thomas J, Demontis, Ditte, Starnawska, Anna, Hedemand, Anne, Buniello, Annalisa, Niola, Francesco, Overgaard, Michael T, Leal, Suzanne M, Ahmad, Wasim, Wikman, Friedrik P, Petersen, Kirsten B, Crüger, Dorthe G, Oostrik, Jaap, Kremer, Hannie, Tommerup, Niels, Frödin, Morten, Steel, Karen P, Tranebjærg, Lisbeth, Børglum, Anders D
Published in PLoS genetics (01.07.2015)
Published in PLoS genetics (01.07.2015)
Get full text
Journal Article
Mutations of ESRRB Encoding Estrogen-Related Receptor Beta Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB35
Collin, Rob W.J., Kalay, Ersan, Tariq, Muhammad, Peters, Theo, van der Zwaag, Bert, Venselaar, Hanka, Oostrik, Jaap, Lee, Kwanghyuk, Ahmed, Zubair M., Çaylan, Refik, Li, Yun, Spierenburg, Henk A., Eyupoglu, Erol, Heister, Angelien, Riazuddin, Saima, Bahat, Elif, Ansar, Muhammad, Arslan, Selcuk, Wollnik, Bernd, Brunner, Han G., Cremers, Cor W.R.J., Karaguzel, Ahmet, Ahmad, Wasim, Cremers, Frans P.M., Vriend, Gert, Friedman, Thomas B., Riazuddin, Sheikh, Leal, Suzanne M., Kremer, Hannie
Published in American journal of human genetics (01.01.2008)
Published in American journal of human genetics (01.01.2008)
Get full text
Journal Article
A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy
Zazo Seco, Celia, Castells-Nobau, Anna, Joo, Seol-Hee, Schraders, Margit, Foo, Jia Nee, van der Voet, Monique, Velan, S Sendhil, Nijhof, Bonnie, Oostrik, Jaap, de Vrieze, Erik, Katana, Radoslaw, Mansoor, Atika, Huynen, Martijn, Szklarczyk, Radek, Oti, Martin, Tranebjærg, Lisbeth, van Wijk, Erwin, Scheffer-de Gooyert, Jolanda M, Siddique, Saadat, Baets, Jonathan, de Jonghe, Peter, Kazmi, Syed Ali Raza, Sadananthan, Suresh Anand, van de Warrenburg, Bart P, Khor, Chiea Chuen, Göpfert, Martin C, Qamar, Raheel, Schenck, Annette, Kremer, Hannie, Siddiqi, Saima
Published in Disease models & mechanisms (01.02.2017)
Published in Disease models & mechanisms (01.02.2017)
Get full text
Journal Article
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)
Get full text
Journal Article
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)
Get full text
Journal Article
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Velde, Hedwig M., Reurink, Janine, Held, Sebastian, Li, Catherina H. Z., Yzer, Suzanne, Oostrik, Jaap, Weeda, Jack, Haer-Wigman, Lonneke, Yntema, Helger G., Roosing, Susanne, Pauleikhoff, Laurenz, Lange, Clemens, Whelan, Laura, Dockery, Adrian, Zhu, Julia, Keegan, David J., Farrar, G. Jane, Kremer, Hannie, Lanting, Cornelis P., Damme, Markus, Pennings, Ronald J. E.
Published in Human genetics (01.11.2022)
Published in Human genetics (01.11.2022)
Get full text
Journal Article