Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.

Autor: de Bruijn SE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Weisschuh N; Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany., Cadena EL; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Holtes LK; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Astuti GDN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Leijsten N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Corominas J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands., Skowronska A; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Woodley J; West Midlands Regional Genetics Laboratory, Birmingham Woman's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Beggs AD; Institute of Cancer and Genomic Sciences, University of Birmingham, Edgbaston, United Kingdom., Toulis V; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Chen D; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Cheetham ME; UCL Institute of Ophthalmology, University College London, London, United Kingdom., Hardcastle AJ; UCL Institute of Ophthalmology, University College London, London, United Kingdom., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Lamey TM; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Thompson JA; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia.; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia., de Roach JN; Centre for Ophthalmology and Visual Science, The University of Western Australia, Perth, WA, Australia.; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Urwin IR; Department of Medical Technology and Physics, Australian Inherited Retinal Disease Registry and DNA Bank, Sir Charles Gairdner Hospital, Perth, WA, Australia., Sullivan LS; Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX, United States., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.

Publikováno v: Frontiers in genetics [Front Genet] 2024 Oct 23; Vol. 15, pp. 1469686. Date of Electronic Publication: 2024 Oct 23 (Print Publication: 2024).

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy.

Autor: Cogné B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Latypova X; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Senaratne LDS; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway., Martin L; University of Paris, INSERM U1163, Institut Imagine, 75015 Paris, France., Koboldt DC; The Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH 43205, USA., Kellaris G; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA., Le Meur G; Service d'Ophtalmologie, Hôtel Dieu, CHU de Nantes, 44093 Nantes, France., Caldari D; Service de Pédiatrie, Hôpital Mère-Enfants, CHU de NANTES, 44093 Nantes, France., Debray D; Unité d'Hépatologie pédiatrique, Centre de référence de l'atrésie des voies biliaires et des cholestases génétiques Hôpital NECKER, 75015 Paris, France., Nizon M; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, 0407 Oslo, Norway., Bowne SJ; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA., Cadena EL; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA., Daiger SP; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA; Ruiz Department of Ophthalmology and Visual Science, University of TX Health Science Center at Houston, Houston, TX 77030, USA., Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Gorin M; Jules Stein Eye Institute and Department of Ophthalmology, University of California Los Angeles, Los Angeles, CA 90095, USA., Katsanis N; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Bézieau S; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Petersen-Jones SM; Department of Small Animal Clinical Studies, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA., Occelli LM; Department of Small Animal Clinical Studies, College of Veterinary Medicine, Michigan State University, East Lansing, MI 48824, USA., Lyons LA; Department of Veterinary Medicine and Surgery, College of Veterinary Medicine, University of Missouri, Columbia, MO 65211, USA., Legeai-Mallet L; University of Paris, INSERM U1163, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, 75015 Paris, France., Sullivan LS; Human Genetics Center, School of Public Health, University of TX Health Science Center at Houston, Houston, TX 77030, USA., Davis EE; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA; Advanced Center for Translational and Genetic Medicine (ACT-GeM), Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Department of Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address: eridavis@luriechildrens.org., Isidor B; CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France; Université de Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2020 Jun 04; Vol. 106 (6), pp. 893-904. Date of Electronic Publication: 2020 May 07.