Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.

Autor: Karaa A; Massachusetts General Hospital, Genetics Division Harvard Medical School Boston, Boston, MA, USA. AKARAA@mgh.harvard.edu., Bertini E; Neuromuscular Unit, Bambino Gesù Ospedale Pediatrico, IRCCS, Rome, Italy., Carelli V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Cohen B; Akron Children's Hospital, Rebecca D. Considine Research Institute, Akron, OH, USA., Ennes GM; Stanford University School of Medicine, Stanford, CA, USA., Falk MJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Goldstein A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA., Gorman G; Royal Victoria Infirmary, Newcastle Upon Tyne, England., Haas R; University of California, San Diego, La Jolla, CA, USA., Hirano M; Columbia University Irving Medical Center, New York, NY, USA., Klopstock T; Department of Neurology, LMU Hospital, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany., Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease, University of Texas McGovern Medical School, Houston, TX, USA., Kornblum C; Department of Neurology, University Hospital of Bonn, Neuromuscular Diseases Section, Bonn, Germany., Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Lehman A; Vancouver General Hospital, Vancouver, BC, Canada., Longo N; University of Utah, Salt Lake City, UT, USA., Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary., Parikh S; Cleveland Clinic Neurological Institute, Cleveland, OH, USA., Phan H; Rare Disease Research, Atlanta, GA, USA., Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK., Saneto R; Seattle Children's Hospital, Seattle, WA, USA., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China., Servidei S; Fondazione Policlinico Universitario A. Gemelli and Istituto Di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, McMaster University Children's Hospital, Hamilton, ON, Canada., Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center for Neuromuscular Disorders of Messina, University of Messina, Messina, Italy., Van Hove JLK; University of Colorado and Children's Hospital Colorado, Aurora, CO, USA., Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Vockley J; Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Finman JS; Jupiter Point Pharma Consulting, LLC, Jupiter, CT, USA., Abbruscato A; Stealth BioTherapeutics, Needham, MA, USA., Brown DA; Stealth BioTherapeutics, Needham, MA, USA., Sullivan A; Stealth BioTherapeutics, Needham, MA, USA., Shiffer JA; Write On Time Medical Communications, LLC, Medford, NJ, USA., Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 21; Vol. 19 (1), pp. 431. Date of Electronic Publication: 2024 Nov 21.

dldhcri3 zebrafish exhibit altered mitochondrial ultrastructure, morphology, and dysfunction partially rescued by probucol or thiamine.

Autor: Lavorato M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA.; Department of Pediatrics and., Iadarola D; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA., Remes C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA., Kaur P; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA., Broxton C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA., Mathew ND; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA.; Department of Pediatrics and., Xiao R; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Seiler C; Zebrafish Core, CHOP, Philadelphia, Pennsylvania, USA., Nakamaru-Ogiso E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA.; Department of Pediatrics and., Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia (CHOP), Philadelphia, Pennsylvania, USA.; Department of Pediatrics and.

Publikováno v: JCI insight [JCI Insight] 2024 Aug 20; Vol. 9 (18). Date of Electronic Publication: 2024 Aug 20.

N -Glycosylation of MRS2 balances aerobic and anaerobic energy production by reducing rapid mitochondrial Mg ²⁺ influx in conditions of high glucose or impaired respiratory chain function.

Autor: Peng M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Mathew ND; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104., Nakamaru-Ogiso E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jul 09. Date of Electronic Publication: 2024 Jul 09.

Bridging the clinical-research gap: Harnessing an electronic data capture, integration, and visualization platform to systematically assess prospective patient-reported outcomes in mitochondrial medicine.

Autor: MacMullen LE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Bioinformatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Stanley K; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America. Electronic address: falkm@chop.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108348. Date of Electronic Publication: 2024 Feb 16.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Autor: Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Battig MR; Center for Applied Genomics, and., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain., Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; Center for Applied Genomics, and., Hou C; Center for Applied Genomics, and., O'Connor N; Center for Applied Genomics, and., Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, and., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Towne M; Ambry Genetics, Aliso Viejo, California, USA., Li M; Invitae, San Francisco, California, USA., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom., Faghfoury H; University Health Network, Toronto, Ontario, Canada., Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA., Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA., Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France., Maas SM; Department of Human Genetics, Academic Medical Center, and., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Wilson A; New York Genome Center, New York, New York, USA., Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France., Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA., Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Arena A; Oasi Research Institute-IRCCS, Troina, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France., Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA., Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France., Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France., Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Halligan RK; Metabolic Clinic, and., Biswas S; Metabolic Clinic, and., Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia., Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA., Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Jan 02; Vol. 134 (1). Date of Electronic Publication: 2024 Jan 02.