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Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing
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Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

Chen, Tingfang ; Rohacek, Alex M. ; Caporizzo, Matthew ; Nankali, Amir ; Smits, Jeroen J. ; Oostrik, Jaap ; Lanting, Cornelis P. ; Kücük, Erdi ; Gilissen, Christian ; van de Kamp, Jiddeke M. ; Pennings, Ronald J.E. ; Rakowiecki, Staci M. ; Kaestner, Klaus H. ; Ohlemiller, Kevin K. ; Oghalai, John S. ; Kremer, Hannie ; Prosser, Benjamin L. ; Epstein, Douglas J.

Developmental cell, 2021-05, Vol.56 (10), p.1526-1540.e7 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment
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Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Wesdorp, Mieke ; van de Kamp, Jiddeke M. ; Hensen, Erik F. ; Schraders, Margit ; Oostrik, Jaap ; Yntema, Helger G. ; Feenstra, Ilse ; Admiraal, Ronald J.C. ; Kunst, Henricus P.M. ; Tekin, Mustafa ; Kanaan, Moien ; Kremer, Hannie ; Pennings, Ronald J.E.

Hearing research, 2017-04, Vol.347, p.56-62 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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3
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2
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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

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

American journal of human genetics, 2015-11, Vol.97 (5), p.647-660 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38
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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

Genes, 2023-02, Vol.14 (2), p.457 [Periódico revisado por pares]

Switzerland: MDPI AG

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5
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment
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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

American journal of human genetics, 2012-10, Vol.91 (4), p.636-645 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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6
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant
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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

Human genetics, 2022-04, Vol.141 (3-4), p.465-484 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse
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MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

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. ; van Dooren, M.F. ; de Gier, H.H.W. ; Hoefsloot, E.H. ; van der Schroeff, M.P. ; Kant, S.G. ; Rotteveel, L.J.C. ; Frints, S.G.M. ; Hof, J.R. ; Stokroos, R.J. ; Vanhoutte, E.K. ; Admiraal, R.J.C. ; Feenstra, I. ; Kremer, H. ; Kunst, H.P.M. ; Pennings, R.J.E. ; Yntema, H.G. ; van Essen, A.J. ; Free, R.H. ; Klein-Wassink, J.S. ; Admiraal, Ronald J.C. ; Yntema, Helger G. ; van Wijk, Erwin ; del Castillo, Ignacio ; Serra, Pau ; Varela-Nieto, Isabel ; Pennings, Ronald J.E. ; Kremer, Hannie

American journal of human genetics, 2018-07, Vol.103 (1), p.74-88 [Periódico revisado por pares]

United States: Elsevier Inc

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8
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss
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A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

de Bruijn, Suzanne E ; Smits, Jeroen J ; Liu, Chang ; Lanting, Cornelis P ; Beynon, Andy J ; Blankevoort, Joëlle ; Oostrik, Jaap ; Koole, Wouter ; de Vrieze, Erik ; Cremers, Cor W R J ; Cremers, Frans P M ; Roosing, Susanne ; Yntema, Helger G ; Kunst, Henricus P M ; Zhao, Bo ; Pennings, Ronald J E ; Kremer, Hannie

Journal of medical genetics, 2021-02, Vol.58 (2), p.96-104 [Periódico revisado por pares]

England: BMJ Publishing Group LTD

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9
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families
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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 Palau, Francesc

PloS one, 2014-06, Vol.9 (6), p.e100146 [Periódico revisado por pares]

United States: Public Library of Science

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10
Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1
Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1
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Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

de Heer, Anne-Martine R. ; Collin, Rob W.J. ; Huygen, Patrick L.M. ; Schraders, Margit ; Oostrik, Jaap ; Rouwette, Myrthe ; Kunst, Henricus P.M. ; Kremer, Hannie ; Cremers, Cor W.R.J.

Audiology & neurotology, 2011-01, Vol.16 (2), p.93-105 [Periódico revisado por pares]

Basel, Switzerland: Karger

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