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

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L1 retrotransposition can occur early in human embryonic development von van den Hurk, José A.J.M., Meij, Iwan C., del Carmen Seleme, Maria, Kano, Hiroki, Nikopoulos, Konstantinos, Hoefsloot, Lies H., Sistermans, Erik A., de Wijs, Ilse J., Mukhopadhyay, Arijit, Plomp, Astrid S., de Jong, Paulus T.V.M., Kazazian, Haig H., Cremers, Frans P.M.

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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP von Nikopoulos, Konstantinos, Venselaar, Hanka, Collin, Rob W.J, Riveiro-Alvarez, Rosa, Boonstra, F. Nienke, Hooymans, Johanna M.M, Mukhopadhyay, Arijit, Shears, Deborah, van Bers, Marleen, de Wijs, Ilse J, van Essen, Anthonie J, Sijmons, Rolf H, Tilanus, Mauk A.D, van Nouhuys, C. Erik, Ayuso, Carmen, Hoefsloot, Lies H, Cremers, Frans P.M

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Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon von VAN DEN HURK, José A. J. M, VAN DE POL, Dorien J. R, ROPERS, Hans-Hilger, CREMERS, Frans P. M, WISSINGER, Bernd, VAN DRIEL, Marc A, HOEFSLOOT, Lies H, DE WIJS, Ilse J, VAN DEN BORN, L. Ingeborgh, HECKENLIVELY, John R, BRUNNER, Han G, ZRENNER, Eberhart

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CYP21 Gene Mutation Analysis in 198 Patients with 21-Hydroxylase Deficiency in The Netherlands: Six Novel Mutations and a Specific Cluster of Four Mutations von Stikkelbroeck, Nike M. M. L., Hoefsloot, Lies H., de Wijs, Ilse J., Otten, Barto J., Hermus, Ad R. M. M., Sistermans, Erik A.

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Clinical and Molecular Evaluation of Probands and Family Members with Familial Exudative Vitreoretinopathy von Boonstra, F. Nienke, van Nouhuys, C. Erik, Schuil, Jose, de Wijs, Ilse J, van der Donk, Kim P, Nikopoulos, Kostas, Mukhopadhyay, Arijit, Scheffer, Hans, Tilanus, Mauk A. D, Cremers, Frans P. M, Hoefsloot, Lies H

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The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice von van Huet, Ramon A C, Pierrache, Laurence H M, Meester-Smoor, Magda A, Klaver, Caroline C W, van den Born, L Ingeborgh, Hoyng, Carel B, de Wijs, Ilse J, Collin, Rob W J, Hoefsloot, Lies H, Klevering, B Jeroen

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Hearing impairment in Dutch patients with connexin 26 ( GJB2) and connexin 30 ( GJB6) mutations von Santos, Regie Lyn P., Aulchenko, Yurii S., Huygen, Patrick L.M., Donk, Kim P. van der, Wijs, Ilse J. de, Kemperman, Martijn H., Admiraal, Ronald J.C., Kremer, Hannie, Hoefsloot, Lies H., Cremers, Cor W.R.J.

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Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping von Siemiatkowska, Anna M, Arimadyo, Kentar, Moruz, Luminita M, Astuti, Galuh D N, de Castro-Miro, Marta, Zonneveld, Marijke N, Strom, Tim M, de Wijs, Ilse J, Hoefsloot, Lies H, Faradz, Sultana M H, Cremers, Frans P M, den Hollander, Anneke I, Collin, Rob W J

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Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man von Bongers, Ernie Mhf, de Wijs, Ilse J, Marcelis, Carlo, Hoefsloot, Lies H, Knoers, Nine Vam

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Identification of entire LMX1B gene deletions in nail patella syndrome : evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man von BONGERS, Ernie M. H. F, DE WIJS, Ilse J, MARCELIS, Carlo, HOEFSLOOT, Lies H, KNOERS, Nine V. A. M

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Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease von SISTERMANS, E. A, DE COO, R. F. M, DE WIJS, I. J, VAN OOST, B. A

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Identification of 21 novel variants in FZD4, LRP5, NDP and an overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease von Nikopoulos, Konstantinos, Venselaar, Hanka, Collin, Rob W., Riveiro-Alvarez, Rosa, Boonstra, F Nienke, Hooymans, Johanna M.M., Mukhopadhyay, Arijit, Shears, Deborah, van Bers, Marleen, de Wijs, Ilse J., Sijmons, Rolf H, Tilanus, Mauk A.D., van Nouhuys, C. Erik, Ayuso, Carmen, Hoefsloot, Lies H., Cremers, Frans P. M

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A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family von SISTERMANS, E. A, DE WIJS, I. J, DE COO, R. F. M, SMIT, L. M. E, MENKO, F. H, VAN OOST, B. A

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Novel types of mutation in the choroideremia von van den Hurk, José A. J. M, van de Pol, Dorien J. R, Wissinger, Bernd, van Driel, Marc A, Hoefsloot, Lies H, de Wijs, Ilse J, van den Born, L. Ingeborgh

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Use of TaqI Digestion May Lead to Incorrect Molecular Diagnosis of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency von Lee, Hsien-Hsiung, de Wijs, Ilse J., Sistermans, Erik A.

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X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder von DE VRIES, D. D, DE WIJS, I. J, WOLFF, G, KETELSEN, U.-P, ROPERS, H.-H, VAN OOST, B. A

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56 A RECOMBINATION EVENT CAUSING A DE NOVO DELETION OF THE STEROID 21-HYDROXYLASE GENE CYP21 von Koppens, Paul F J, Hoogenboezem, Theo, Smeets, Hubert J M, De Wijs, Ilse J, Drop, Stenvert L S, De Muinck Keizer-Schrama, Sabine M P F, Degenhart, Herman J

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Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant von Bax, Nathalie M., Sangermano, Riccardo, Roosing, Susanne, Thiadens, Alberta A.H.J., Hoefsloot, Lies H., van den Born, L. Ingeborgh, Phan, Milan, Klevering, B. Jeroen, Westeneng-van Haaften, Carla, Braun, Terry A., Zonneveld-Vrieling, Marijke N., de Wijs, Ilse, Mutlu, Merve, Stone, Edwin M., den Hollander, Anneke I., Klaver, Caroline C.W., Hoyng, Carel B., Cremers, Frans P.M.

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Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome von Bergman, Jorieke E.H, de Wijs, Ilse, Jongmans, Marjolijn C.J, Admiraal, Ronald J, Hoefsloot, Lies H, van Ravenswaaij-Arts, Conny M.A

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