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).

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.

Autor: Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France., Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany., Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel., Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel., Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia., Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland., Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic., Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland., Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA., Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA., Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland., Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK., Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan., Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA., Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA., Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina., Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine., Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand., Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa., Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy., Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK., van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands., McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia., Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia., Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil., Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany., Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.

Publikováno v: Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.

Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.

Autor: Mc Clinton B; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., McKibbin M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.; Department of Ophthalmology, St. James's University Hospital, Leeds LS9 7TF, UK., Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Ali M; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK., Watson CM; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.; North East and Yorkshire Genomic Laboratory Hub, Central Lab, St. James's University Hospital, Leeds LS9 7TF, UK., Steel DH; Sunderland Eye Infirmary, Sunderland SR2 9HP, UK.; The Bioscience Institute, Newcastle University, Newcastle upon Tyne NE2 4HH, UK., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Inglehearn CF; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Toomes C; Leeds Institute of Medical Research, University of Leeds, St James's University Hospital, Leeds LS9 7TF, UK.

Publikováno v: Genes [Genes (Basel)] 2023 Jan 11; Vol. 14 (1). Date of Electronic Publication: 2023 Jan 11.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Autor: Yosef, Tamar Ben, Banin, Eyal, Chervinsky, Elana, Shalev, Stavit A., Leibu, Rina, Mezer, Eedy, Rotenstreich, Ygal, Goldenberg-Cohen, Nitza, Weiss, Shirel, Khan, Muhammad Imran, Panneman, Daan M., Hitti-Malin, Rebekkah J., Weiner, Chen, Roosing, Susanne, Cremers, Frans P. M., Pras, Eran, Zur, Dinah, Newman, Hadas, Deitch, Iris, Sharon, Dror

Publikováno v: Molecular Vision; 2023, Vol. 29, p1-12, 12p