Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis.

Autor: Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Reurink J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Ali M; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom., Andréasson S; Department of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden., De Baere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Banfi S; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Bauwens M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Bocquet B; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, Montpellier, France.; Institute for Neurosciences of Montpellier (INM), L'Institut National de la Santé et de la Recherche Médicale, University of Montpellier, L'Institut National de la Santé et de la Recherche Médicale, Montpellier, France., De Bruyne M; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., de la Cerda B; Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), Seville, Spain., Coppieters F; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Department of Pharmaceutics, Ghent University, Ghent, Belgium., Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland., Guignard T; Chromosomal Genetics Unit, University Hospital of Montpellier, Montpellier, France., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Kjellström U; Department of Ophthalmology and Clinical Sciences Lund, Lund University, Skane University Hospital, Lund, Sweden., Koenekoop R; McGill University Health Center (MUHC) Research Institute, Montreal, QC, Canada.; Departments of Paediatric Surgery, Human Genetics, and Adult Ophthalmology, McGill University Health Center, Montreal, QC, Canada., de Koning B; Department of Clinical Genetics, Maastricht University Medical Center+ (MUMC+), Maastricht, Netherlands., Leroy BP; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Head & Skin, Ghent University, Ghent, Belgium.; Division of Ophthalmology & Center for Cellular & Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., McKibbin M; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom.; Department of Ophthalmology, St. James's University Hospital, Leeds, United Kingdom., Meunier I; National Reference Centre for Inherited Sensory Diseases, University of Montpellier, Montpellier University Hospital, Sensgene Care Network, ERN-EYE Network, Montpellier, France.; Institute for Neurosciences of Montpellier (INM), L'Institut National de la Santé et de la Recherche Médicale, University of Montpellier, L'Institut National de la Santé et de la Recherche Médicale, Montpellier, France., Nikopoulos K; Laboratory of molecular diagnostics, UNILABS SA, Lausanne, Switzerland., Nishiguchi KM; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom., Rodríguez de la Rúa E; Department of Ophthalmology, Retics Patologia Ocular, OFTARED, Instituto de Salud Carlos III, University Hospital Virgen Macarena, Madrid, Spain., Saunders P; Molecular Loop Biosciences Inc., Woburn, MA, United States., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Tatour Y; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Testa F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Thiadens AAHJ; Department of Ophthalmology, Erasmus, Rotterdam, Netherlands., Toomes C; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds, United Kingdom., Tracewska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Tran HV; Oculogenetic Unit, University Eye Hospital Jules Gonin, Geneva, Switzerland., Ushida H; Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan., Vaclavik V; Oculogenetic Unit, University Eye Hospital Jules Gonin, Geneva, Switzerland., Verhoeven VJM; Department of Ophthalmology, Erasmus, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus, Rotterdam, Netherlands., van de Vorst M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, Netherlands.

Publikováno v: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2023 Feb 03; Vol. 11, pp. 1112270. Date of Electronic Publication: 2023 Feb 03 (Print Publication: 2023).

Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.

Autor: Natsume, Keigo¹ (AUTHOR), Kominami, Taro¹ (AUTHOR) taro.kominami@gmail.com, Goto, Kensuke¹ (AUTHOR), Koyanagi, Yoshito¹ (AUTHOR), Inooka, Taiga¹ (AUTHOR), Ota, Junya¹ (AUTHOR), Kawano, Kenichi¹ (AUTHOR), Yamada, Kazuhisa¹ (AUTHOR), Okuda, Daishi¹ (AUTHOR), Yuki, Kenya¹ (AUTHOR), Nishiguchi, Koji M.¹ (AUTHOR), Ushida, Hiroaki¹ (AUTHOR)

Publikováno v: Scientific Reports. 10/27/2024, Vol. 14 Issue 1, p1-13. 13p.

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

Autor: Nikopoulos K, Gu, Butt, Farinelli P, Mudassar M, Domènech-Estévez E, Samara C, Kausar M, Masroor I, Roman Chrast, Rivolta C, Siddiqi S

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3b6022293cbcfd9fd297e46c80945995
https://pubmed.ncbi.nlm.nih.gov/26285675

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

Autor: Ascari G; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., Peelman F; Department of Medical Protein Research, Faculty of Medicine and Health Sciences, Flanders Institute for Biotechnology (VIB), Ghent University, Ghent, Belgium., Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Rosseel T; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., Lambrechts N; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., Wunderlich KA; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Department of Physiological Genomics, BMC, Ludwig-Maximilians-Universität München, Planegg, Germany., Wagner M; Institute of Human Genetics, Faculty of Medicine, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Neuherberg, Germany.; Institut für Neurogenomik, Helmholtz Zentrum München, Deutsches Forschungszentrum für Gesundheit und Umwelt (GmbH), Neuherberg, Germany., Nikopoulos K; Oncogenomics laboratory, Department of Hematology, Lausanne University Hospital (CHUV), Lausanne, Switzerland., Martens P; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Balikova I; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Derycke L; Upper Airways Research Laboratory, Department Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium., Holtappels G; Upper Airways Research Laboratory, Department Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium., Krysko O; Upper Airways Research Laboratory, Department Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium., Van Laethem T; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., De Jaegere S; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., Guillemyn B; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., De Rycke R; Department of Biomedical Molecular Biology and Expertise Centre for Transmission Electron Microscopy, Ghent University, Ghent, Belgium.; VIB Center for Inflammation Research and BioImaging Core, VIB, Ghent, Belgium., De Bleecker J; Department of Neurology, Ghent University Hospital, Ghent, Belgium., Creytens D; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Van Dorpe J; Department of Pathology, Ghent University Hospital, Ghent, Belgium., Gerris J; Department of Human Structure and Repair, Ghent University Hospital, Ghent, Belgium., Bachert C; Upper Airways Research Laboratory, Department Otorhinolaryngology, Ghent University Hospital, Ghent, Belgium., Neuhofer C; Institute of Human Genetics, University Medical Center Göttingen (UMG), Göttingen, Germany., Walraedt S; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium., Bischoff A; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany., Pedersen LB; Department of Biology, University of Copenhagen, Copenhagen, Denmark., Klopstock T; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Leroy BP; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.; Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., De Baere E; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium., Coppieters F; Department of Biomolecular Medicine, Center for Medical Genetics Ghent, Ghent University Hospital, Ghent University, Ghent, Belgium.

Publikováno v: Human mutation [Hum Mutat] 2020 May; Vol. 41 (5), pp. 998-1011. Date of Electronic Publication: 2020 Feb 12.

Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development.

Autor: Atac, David¹ (AUTHOR) grubichatac@medmolgen.uzh.ch, Maggi, Kevin¹ (AUTHOR) kmaggi@medmolgen.uzh.ch, Feil, Silke¹ (AUTHOR) feil@medmolgen.uzh.ch, Maggi, Jordi¹ (AUTHOR) maggi@medmolgen.uzh.ch, Cuevas, Elisa² (AUTHOR) j.sowden@ucl.ac.uk, Sowden, Jane C.² (AUTHOR), Koller, Samuel¹ (AUTHOR) koller@medmolgen.uzh.ch, Berger, Wolfgang^1,3,4 (AUTHOR) berger@medmolgen.uzh.ch

Publikováno v: Cells (2073-4409). Jul2024, Vol. 13 Issue 13, p1142. 33p.