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

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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction von Ragancokova, Daniela, Rocca, Elena, Oonk, Anne Mm, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald Je, Wende, Hagen, Garratt, Alistair N

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Visual Prognosis in USH2A -Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa von Pierrache, Laurence H.M., MD, Hartel, Bas P., MD, van Wijk, Erwin, PhD, Meester-Smoor, Magda A., PhD, Cremers, Frans P.M., PhD, de Baere, Elfride, MD, PhD, de Zaeytijd, Julie, MD, van Schooneveld, Mary J., MD, PhD, Cremers, Cor W.R.J., MD, PhD, Dagnelie, Gislin, PhD, Hoyng, Carel B., MD, PhD, Bergen, Arthur A., PhD, Leroy, Bart P., MD, PhD, Pennings, Ronald J.E., MD, PhD, van den Born, L. Ingeborgh, MD, PhD, Klaver, Caroline C.W., MD, PhD

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

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TSHZ1-dependent gene regulation is essential for olfactory bulb development and olfaction von Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J E, Wende, Hagen, Garratt, Alistair N

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A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa von Hartel, Bas P., Löfgren, Maria, Huygen, Patrick L.M., Guchelaar, Iris, Lo-A-Njoe Kort, Nicole, Sadeghi, Andre M., van Wijk, Erwin, Tranebjærg, Lisbeth, Kremer, Hannie, Kimberling, William J., Cremers, Cor W.R.J., Möller, Claes, Pennings, Ronald J.E.

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

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Comment on “Usherʼs Syndrome: Evaluation of the Vestibular System with Cervical and Ocular Vestibular Evoked Myogenic Potentials and the Video Head Impulse Test” von Hartel, Bas P, Pennings, Ronald J.E, van Wijk, Erwin

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

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Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a von Hendricks, Jessie M., Metz, Juriaan R., Velde, Hedwig M., Weeda, Jack, Hartgers, Franca, Yzer, Suzanne, Hoyng, Carel B., Pennings, Ronald J.E., Collin, Rob W.J., Boss, Myrthe H.M., de Vrieze, Erik, van Wijk, Erwin

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Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease von Cryns, Kim, Sivakumaran, Theru A., Van den Ouweland, Jody M.W., Pennings, Ronald J.E., Cremers, Cor W.R.J., Flothmann, Kris, Young, Terry-Lynn, Smith, Richard J.H., Lesperance, Marci M., Camp, Guy Van

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Cervical dystonia after ear surgery von van Gaalen, Judith, Pennings, Ronald J.E, Beynon, Andy J, Münchau, Alexander, Bloem, Bastiaan R, van de Warrenburg, Bart P.C

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Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants von 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.

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USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II von Pennings, Ronald J.E., te Brinke, Heleen, Weston, Michael D., Claassen, Annemarie, Orten, Dana J., Weekamp, Henriëtte, van Aarem, Annelies, Huygen, Patrick L.M., Deutman, August F., Hoefsloot, Lies H., Cremers, Frans P.M., Cremers, Cor W.R.J., Kimberling, William J., Kremer, Hannie

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Efficacy of diagnostic upper-node procedures during laryngectomy for glottic carcinoma von Pennings, Ronald J.E., M.D., Ph.D, Marres, Henri A.M., M.D., Ph.D, den Heeten, Annemarie, M.D, van den Hoogen, Frank J.A., M.D., Ph.D

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

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Corrigendum von Rohde, Elvira, Oonk, Anne M.M, Rocca, Elena, Garratt, Alistair N, Bednarsch, Jan, Feenstra, Ilse, Wende, Hagen, Pennings, Ronald J.E, Ragancokova, Daniela, Schulz, Herbert

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Corrigendum von Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M.M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J.E, Wende, Hagen, Garratt, Alistair N

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Corrigendum von Ragancokova, Daniela, Rocca, Elena, Oonk, Anne M.M, Schulz, Herbert, Rohde, Elvira, Bednarsch, Jan, Feenstra, Ilse, Pennings, Ronald J.E, Wende, Hagen, Garratt, Alistair N

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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease−associated genes von de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Ferenc Kovács, Árpád, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R., Vissers, Lisenka E.L.M., van den Born, L. Ingeborgh, Gilissen, Christian, Cremers, Frans P.M., Hoischen, Alexander, Neveling, Kornelia, Roosing, Susanne

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