Zobrazeno 1 - 10
of 616 153
pro vyhledávání: '"loss-of-function"'
Autor:
Khatib CM; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Klein-Petersen AW; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Rønnstad ATM; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Egeberg A; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Christensen MO; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Silverberg JI; George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Thomsen SF; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark., Irvine AD; Clinical Medicine, Trinity College Dublin, Dublin, Ireland., Thyssen JP; Department of Dermatology, Bispebjerg Hospital, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Experimental dermatology [Exp Dermatol] 2024 Jul; Vol. 33 (7), pp. e15130.
Autor:
Kohler JN; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA. Electronic address: jkohler@stanfordhealthcare.org., Legro NR; Department of Obstetrics and Gynecology, MedStar Washington Hospital Center and Georgetown University Hospital, Washington, DC. Electronic address: nicole.legro@gunet.georgetown.edu., Baldridge D; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Shin J; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Bowman A; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Ugur B; Departments of Neuroscience and of Cell Biology, Yale University School of Medicine, New Haven, CT., Jackstadt MM; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Shriver LP; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Patti GJ; Department of Chemistry, Washington University in St. Louis, St. Louis, MO; Department of Medicine, Washington University in St. Louis, St. Louis, MO; Center for Proteomics, Metabolomics, and Isotope Tracing, Washington University in St. Louis, St. Louis, MO., Zhang B; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Feng W; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., McAdow AR; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Goddard P; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Ungar RA; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Jensen T; Department of Genetics, Stanford University School of Medicine, Stanford, CA., Smith KS; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Fresard L; Invitae, San Francisco, CA., Alvarez R; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA., Bonner D; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., Reuter CM; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., McCormack C; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Kravets E; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Marwaha S; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA., Holt JM; PacBio, 1305 O'Brien Drive Menlo Park, CA., Worthey EA; Center for Computational Genomics and Data Science, Department of Genetics, University of Alabama, Birmingham, AL., Ashley EA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA., Montgomery SB; Department of Genetics, Stanford University School of Medicine, Stanford, CA; Department of Pathology, Stanford University School of Medicine, Stanford, CA., Fisher PG; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA., Postlethwait J; Institute of Neuroscience, University of Oregon, Eugene, OR., De Camilli P; Departments of Neuroscience and of Cell Biology, Howard Hughes Medical Institute, Program in Cellular Neuroscience, Neurodegeneration and Repair, Yale University School of Medicine, New Haven, CT., Solnica-Krezel L; Model Organism Screening Center, Department of Developmental Biology, Washington University School of Medicine in St. Louis, St. Louis, MO., Bernstein JA; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA., Wheeler MT; Stanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA; Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep; Vol. 26 (9), pp. 101166. Date of Electronic Publication: 2024 May 17.
Autor:
Whiffin N; Big Data Institute and Centre for Human Genetics, University of Oxford, Oxford, UK. nwhiffin@well.ox.ac.uk.
Publikováno v:
Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1544-1545.
Autor:
Asif M; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Khayyat AIA; Biochemistry Department, King Saud University, Riyadh, Saudi Arabia., Alawbathani S; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; GenAlive Lab, Riyadh, Saudi Arabia., Abdullah U; University Institute of Biochemistry and Biotechnology (UIBB), PMAS-Arid Agriculture University Rawalpindi, Rawalpindi, Pakistan., Sanner A; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Georgomanolis T; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Haasters J; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany., Becker K; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Budde B; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Becker C; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Thiele H; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Baig SM; Department of Biological and Biomedical Sciences, The Aga Khan University, Karachi, Pakistan; Health Services Academy (HSA), Ministry of National Health Services Regulations and Coordination (MNHSR&C), Islamabad, Pakistan., Isidoro-García M; Reference Unit for Rare Diseases DiERCyL, Clinical Biochemistry Department, University Hospital of Salamanca, Medicine Department, University of Salamanca, IBSAL, Salamanca, Spain., Winter D; Institute for Biochemistry and Molecular Biology, Medical Faculty, University of Bonn, Bonn, Germany., Pogoda HM; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Muhammad S; Department of Neurosurgery, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf, Germany., Hammerschmidt M; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Institute of Zoology, Developmental Biology Unit, University of Cologne, Cologne, Germany., Kraft F; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany., Martin HG; Departamento de Pediatría, Hospital Universitario de Salamanca, INCYL member, Salamanca, Spain., Wagner M; Department of Paediatric Neurology and Developmental Medicine, Dr. von Hauner Children's Hospital, LMU Hospital Munich, Ludwig-Maximilians-Universität, Munich, Germany; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, Munich, Germany; Institute for Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany., Nürnberg P; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany., Hussain MS; Cologne Center for Genomics (CCG), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany. Electronic address: mhussain@uni-koeln.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101143. Date of Electronic Publication: 2024 Apr 16.
Autor:
Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Tan KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Bove KE; Department of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Quintanilla N; Department of Pathology and Immunology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX., Sag SO; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey., Temel SG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa, Turkey., LeDuc CA; Department of Pediatrics, Columbia University, New York, NY., McPartland AJ; Department of Pediatrics, Columbia University, New York, NY., Pereira EM; Department of Pediatrics, Columbia University, New York, NY., Shen Y; Department of Systems Biology, Columbia University Medical Center, New York, NY., Hagen J; Department of Systems Biology, Columbia University Medical Center, New York, NY., Thomas CP; Department of Internal Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA., Nguyen Galván NT; Division of Abdominal Transplantation, Baylor College of Medicine, Houston, TX., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX., Hertel PM; Texas Children's Hospital, Houston, TX; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: wendy.chung@childrens.harvard.edu., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX. Electronic address: hbellen@bcm.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101125. Date of Electronic Publication: 2024 Mar 21.
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
Autor:
Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium., Murtomäki A; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Leppänen VM; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Hyytiäinen M; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Mestre S; Department of Vascular Medicine, Centre de Référence des Maladies Lymphatiques et Vasculaires Rares, Inserm IDESP, CHU Montpellier, Université de Montpellier, Montpellier, France., Potier L; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium., Boon LM; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, VASCERN-VASCA Reference Centre, Brussels, Belgium., Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Brussels, Belgium., Greene A; Department of Plastic and Oral Surgery, Lymphedema Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Anisimov A; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Salo MH; Biocenter Oulu, Research Unit of Clinical Medicine and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Hinttala R; Biocenter Oulu, Research Unit of Clinical Medicine and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Eklund L; Oulu Center for Cell-Matrix Research, Faculty of Biochemistry and Molecular Medicine, Biocenter Oulu, University of Oulu, Oulu, Finland., Quéré I; Department of Vascular Medicine, Centre de Référence des Maladies Lymphatiques et Vasculaires Rares, Inserm IDESP, CHU Montpellier, Université de Montpellier, Montpellier, France., Alitalo K; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Brussels, Belgium.; WELBIO department, WEL Research Institute, Wavre, Belgium.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 May 30; Vol. 134 (14). Date of Electronic Publication: 2024 May 30.
Autor:
Rinaldi B; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bayat A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Zachariassen LG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sun JH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Zhejiang Key Laboratory of Organ Development and Regeneration, College of Life and Environmental Sciences, Hangzhou Normal University, Hangzhou 310030, China., Ge YH; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China., Zhao D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bonde K; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Madsen LH; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Awad IAA; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Bagiran D; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Sbeih A; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Shah SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., El-Sayed S; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Lyngby SM; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Pedersen MG; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Stenum-Berg C; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark., Walker LC; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Delahaye-Duriez A; Unité fonctionnelle de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique des Hôpitaux de Paris, Bondy 93140, France.; NeuroDiderot, UMR 1141, Inserm, Université Paris Cité, Paris 75019, France.; UFR SMBH, Université Sorbonne Paris Nord, Bobigny 93000, France., Emrick LT; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Sully K; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Plaud Gonzalez JA; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA., Parnes M; Division of Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Texas Children's Hospital, Houston, TX 77030, USA.; Pediatric Movement Disorders Clinic, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Department of Neurosciences, University of California San Diego, San Diego, CA 92123, USA.; Department of Pediatrics, University of California San Diego, San Diego, CA 92123, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France., Lefranc J; Pediatric Neurophysiology Department, CHU de Brest, Brest 29200, France., Redon S; Service de Génétique Médicale, CHU de Brest, Brest 29200, France.; Université de Brest, CHU de Brest, UMR 1078, Brest F29200, France., Heron D; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Mignot C; APHP Sorbonne Université, Département de Génétique, Hôpital Armand Trousseau and Groupe Hospitalier Pitié-Salpêtrière, Paris 75013, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris 75013, France., Keren B; Genetic Department, APHP, Sorbonne Université, Pitié-Salpêtrière Hospital, Paris 75013, France., Fradin M; Service de Génétique Médicale, Hôpital Sud, CHU de Rennes, Rennes 35200, France., Dubourg C; Service de Génétique Moléculaire et Génomique, CHU de Rennes, Rennes 35200, France.; Université de Rennes, CNRS, Institut de Genetique et Developpement de Rennes, UMR 6290, Rennes 35200, France., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Cogne B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes 44000, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes 44000, France., Rivier C; Department of Paediatrics, Villefranche-sur-Saône Hospital, Villefranche-sur-Saône 69655, France., Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Bedeschi MF; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Di Napoli C; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Grilli F; Medical Genetics Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan 20122, Italy., Marchisio P; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Pediatria Pneumoinfettivologia, Milan 20122, Italy.; University of Milan, Milan 20122, Italy., Koudijs S; Department of Neurology, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Veenma D; Department of Pediatrics, ENCORE, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam 3015, The Netherlands., Argilli E; Institute of Human Genetics, University of California, San Francisco, CA 94143, USA.; Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, CA 94143, USA., Lynch SA; Department of Clinical Genetics, Children's Health Ireland Crumlin, Dublin D12 N512, Ireland., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada., Ayala Valenzuela FE; Hospital Angeles Tijuana, Tijuana 22010, Mexico., Brown C; Illumina Inc, San Diego, CA 92122, USA., Masser-Frye D; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Jones M; Division of Genetics, Department of Pediatrics, UC San Diego School of Medicine, Rady Children's Hospital, San Diego, CA 92123, USA., Patron Romero L; Facultad de Medicina y Psicología, Universidad Autónoma de Baja California, Tijuana 22010, Mexico., Li WL; Breakthrough Genomics Inc, Irvine, CA 92618, USA., Thorpe E; Illumina Inc, San Diego, CA 92122, USA., Hecher L; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg 20215, Germany., McNiven V; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Fred A Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5G 2C4, Canada., Szuto A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, ON M5G 1E8, Canada., Wakeling E; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK., Cruz V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Sency V; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Wang H; DDC Clinic Center for Special Needs Children, Middlefield, OH 44062, USA., Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire, Université de Franche-Comté, Besançon 25000, France.; UMR 1231 GAD, Inserm, Université de Bourgogne Franche-Comté, Dijon 21000, France., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg 20246, Germany., Condell A; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia., Ben-Zeev B; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan 52621, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv 4R73+8Q, Israel., Kaur S; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria 3052, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales 2050, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, NewSouth Wales 2050, Australia., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg 67000, France., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern 3010, Switzerland., Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen 91054, Germany., Micalizzi A; Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome 00165, Italy., Trivisano M; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Specchio N; Neurology, Epilepsy and Movement Disorders, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome 00165, Italy., Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon 69100, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon 69100, France., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5230Denmark., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen 2100, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2100, Denmark., Musgaard M; Department of Chemistry and Biomolecular Sciences, University of Ottawa, Ottawa K1H 8M5, Canada., Gerard B; Laboratoires de diagnostic genetique, Institut de genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg, Strasbourg 67000, France., Lemke JR; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Shi YS; State Key Laboratory of Pharmaceutical Biotechnology, Model Animal Research Center, Department of Neurology, Nanjing Drum Tower Hospital, Medical School, Nanjing University, Nanjing 210032, China.; Ministry of Education Key Laboratory of Model Animal for Disease Study, National Resource Center for Mutant Mice, Jiangsu Key Laboratory of Molecular Medicine, Medical School, Nanjing University, Nanjing 210032, China.; Guangdong Institute of Intelligence Science and Technology, Zhuhai 519031, China., Kristensen AS; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen 2100, Denmark.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 May 03; Vol. 147 (5), pp. 1837-1855.
Autor:
Salhi S; Service des Soins intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique- Hôpitaux de Paris, Paris, France; Université Paul Sabatier - Toulouse 3, Toulouse, France; Toulouse, France Department of Nephrology and Organ Transplantation, Centre for Rare Kidney Diseases, University Hospital of Toulouse, Toulouse, France., Doreille A; Service des Soins intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique- Hôpitaux de Paris, Paris, France; Faculté de médecine, Sorbonne Université, Paris, France., Dancer MS; Laboratoire de Génétique, Eurofins Biomnis, Lyon, France., Boueilh A; Service de Néphrologie, Hôpital Henri Mondor, Université Paris Est Créteil, Assistance Publique- Hôpitaux de Paris, Paris, France., Filipozzi P; Service de Néphrologie, Hôpital Robert Schuman, Association Saint-André, Metz, France., El Karoui K; Service de Néphrologie et Dialyses, Hôpital Tenon, Assistance Publique- Hôpitaux de Paris, Paris, France., Ponce F; Centre Hospitalier Universitaire de Reims, Pôle de biologie médicale et pathologie, Service de génétique, Reims, France et Université Reims Champagne Ardenne (URCA), Reims, France., Lebre AS; Centre Hospitalier Universitaire de Reims, Pôle de biologie médicale et pathologie, Service de génétique, Reims, France et Université Reims Champagne Ardenne (URCA), Reims, France; Department of Medical Genetics, AP-HP Sorbonne University, Paris, France., Raymond L; Laboratoire de Génétique, Eurofins Biomnis, Lyon, France., Mesnard L; Service des Soins intensifs Néphrologiques et Rein Aigu, Hôpital Tenon, Assistance Publique- Hôpitaux de Paris, Paris, France; Faculté de médecine, Sorbonne Université, Paris, France; Institut National de la Santé et de la Recherche Médicale Unité Mixte de Recherche S1155, Paris, France; Institut des Sciences du Calcul et des Données, Sorbonne Université, Paris, France; French National Center for Hereditary Kidney Diseases in Children and Adults (MARHEA). Electronic address: laurent.mesnard@aphp.fr.
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation [Am J Kidney Dis] 2024 May; Vol. 83 (5), pp. 688-691. Date of Electronic Publication: 2023 Oct 14.
Autor:
Beaumont RN; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX1 2LU, UK. r.beaumont@exeter.ac.uk., Hawkes G; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX1 2LU, UK., Gunning AC; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX1 2LU, UK.; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, EX2 5DW, UK., Wright CF; Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, EX1 2LU, UK. caroline.wright@exeter.ac.uk.
Publikováno v:
Genome medicine [Genome Med] 2024 Apr 26; Vol. 16 (1), pp. 64. Date of Electronic Publication: 2024 Apr 26.
Autor:
Virolainen SJ; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Immunology Graduate Program and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Satish L; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Biagini JM; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Chaib H; Division of Human Genetics and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Chang WC; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Dexheimer PJ; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Dixon MR; Division of Human Genetics and., Dunn K; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Fletcher D; Division of Human Genetics and., Forney C; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Granitto M; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Hestand MS; Pacific Biosciences, Menlo Park, California, USA., Hurd M; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Kauffman K; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Lawson L; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Martin LJ; Division of Human Genetics and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Peña LD; Division of Human Genetics and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Phelan KJ; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Medical Scientist Training Program, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Shook M; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Weirauch MT; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Immunology Graduate Program and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Divisions of Developmental Biology and Bioinformatics and Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA., Khurana Hershey GK; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Division of Asthma Research, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Medical Scientist Training Program, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA., Kottyan LC; Division of Human Genetics and.; Center for Autoimmune Genomics and Etiology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Immunology Graduate Program and.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Divisions of Developmental Biology and Bioinformatics and Allergy and Immunology, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
Publikováno v:
JCI insight [JCI Insight] 2024 Apr 02; Vol. 9 (9). Date of Electronic Publication: 2024 Apr 02.