Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Autor: Abu Bakar N; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Selayang Hospital, Selangor, Ministry of Health Malaysia, Putrajaya, Malaysia., Ashikov A; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Brum JM; Department of Clinical Pathology, The Sarah Network of Rehabilitation Hospitals, Brasilia, Brazil., Smeets R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Kersten M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Huijben K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Keng WT; Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Ministry of Health Malaysia, Putrajaya, Malaysia., Speck-Martins CE; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Carvalho DR; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Rizzo IMPO; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Mello WD; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., Heiner-Fokkema R; Department of Laboratory Medicine, UMC Groningen, Groningen, The Netherlands., Gorman K; Pediatric Neurology, Children's Health Ireland (CHI), Dublin, Ireland., Grunewald S; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust Institute of Child Health, University College London, London, UK., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Martinelli D; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Rome, Italy., van Scherpenzeel M; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen M; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Heuvel LP; Department of Pediatrics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Thiel C; Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany., Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 769-781. Date of Electronic Publication: 2022 Mar 28.

Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator.

Autor: Allou L; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Balzano S; Medical Genetics Unit, Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Magg A; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany., Quinodoz M; Medical Genetics Unit, Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Royer-Bertrand B; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Schöpflin R; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Chan WL; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany., Speck-Martins CE; Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Carvalho DR; Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Farage L; Instituto de Cardiologia do Distrito Federal, Brasilia, Brazil., Lourenço CM; Faculdade de Medicina, Centro Universitario Estácio, Ribeirão Preto, Brazil., Albuquerque R; Faculdade Estadual de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, Brazil., Rajagopal S; Department of Medical Genetics, Tamil Nadu Dr M.G.R. Medical University, Chennai, India., Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India., Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Chiesa C; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Niel-Bütschi F; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Wittler L; Department of Developmental Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Timmermann B; Sequencing Core Facility, Max Planck Institute for Molecular Genetics, Berlin, Germany., Spielmann M; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institut für Humangenetik Lübeck, Universität zu Lübeck, Lübeck, Germany., Robson MI; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Ringel A; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Heinrich V; Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Berlin, Germany., Cova G; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Andrey G; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.; Department of Genetic Medicine and Development and iGE3, Faculty of Medicine, University of Geneva, Geneva, Switzerland., Prada-Medina CA; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Pescini-Gobert R; Medical Genetics Unit, Department of Computational Biology, University of Lausanne, Lausanne, Switzerland., Unger S; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Bonafé L; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland., Grote P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany., Rivolta C; Medical Genetics Unit, Department of Computational Biology, University of Lausanne, Lausanne, Switzerland.; Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Mundlos S; RG Development & Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany. mundlos@molgen.mpg.de.; Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany. mundlos@molgen.mpg.de.; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Berlin, Germany. mundlos@molgen.mpg.de., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, Lausanne, Switzerland.

Publikováno v: Nature [Nature] 2021 Apr; Vol. 592 (7852), pp. 93-98. Date of Electronic Publication: 2021 Feb 10.

Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1.

Autor: Carvalho DR; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Speck-Martins CE; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Brum JM; SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil., Ferreira CR; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Sobreira NLM; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Jul; Vol. 182 (7), pp. 1796-1800. Date of Electronic Publication: 2020 May 18.

Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.

Autor: Perez-Siles G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia gonzalo.perez-siles@sydney.edu.au marina.kennerson@sydney.edu.au.; Sydney Medical School, University of Sydney, Sydney, 2050 NSW, Australia., Cutrupi A; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, 2050 NSW, Australia., Ellis M; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia., Kuriakose J; School of Life Sciences, University of Technology Sydney, Sydney, 2007 NSW, Australia., La Fontaine S; Centre for Cellular and Molecular Biology, School of Life and Environmental Sciences, Deakin University, Burwood, 3125 VIC, Australia., Mao D; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Kyoto 606-8302, Japan., Uesugi M; Institute for Integrated Cell-Material Sciences and Institute for Chemical Research, Kyoto University, Kyoto 606-8302, Japan., Takata RI; Sarah Network Rehabilitation Hospitals, Brasilia, 70297-400 DF, Brazil., Speck-Martins CE; Sarah Network Rehabilitation Hospitals, Brasilia, 70297-400 DF, Brazil., Nicholson G; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, 2050 NSW, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, 2139 NSW, Australia., Kennerson ML; Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, 2139 NSW, Australia gonzalo.perez-siles@sydney.edu.au marina.kennerson@sydney.edu.au.; Sydney Medical School, University of Sydney, Sydney, 2050 NSW, Australia.; Molecular Medicine Laboratory, Concord Repatriation General Hospital, Sydney, 2139 NSW, Australia.

Publikováno v: Disease models & mechanisms [Dis Model Mech] 2020 Jan 13; Vol. 13 (2). Date of Electronic Publication: 2020 Jan 13.

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.

Autor: Santos SCL; Molecular Pathology Laboratory, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Rizzo IMPO; Department of Clinical Genetics, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Takata RI; Molecular Pathology Laboratory, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Speck-Martins CE; Department of Clinical Genetics, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Brum JM; Department of Clinical Genetics, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil., Sollaci C; Department of Orthopaedics, SARAH Network of Rehabilitation Hospitals, Brasília, Brazil.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2018 May; Vol. 6 (3), pp. 382-392. Date of Electronic Publication: 2018 Mar 12.