Zobrazeno 1 - 10
of 106
pro vyhledávání: '"Burrage LC"'
Autor:
Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S, UCDC and the E-IMD consortia study group
Publikováno v:
ANNALS OF NEUROLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0bdf613de635f8d7894323b19eab8f9d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16189
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16189
Akademický článek
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Akademický článek
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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:
Li S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhao S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sinson JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bajic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Advanced Technology Cores, Baylor College of Medicine, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Neeley MB; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA., Pena M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Craigen WJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Clark GD; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; Cain Pediatric Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Emrick L; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Sheppard J; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA., Nguyen MTT; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA., Khoramnia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Liu Z; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA; Graduate Program in Quantitative and Computational Biosciences, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Section of Neurology, Baylor College of Medicine, Houston, TX, USA., Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics, Houston, TX, USA. Electronic address: pengfeil@bcm.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 May 02; Vol. 111 (5), pp. 841-862. Date of Electronic Publication: 2024 Apr 08.
Autor:
Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Walker S; Genomics England, London, UK., Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA., Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK., Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK., Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA., Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK., Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia., Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA., Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA., Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia., Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA., Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia., Ezell K; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA., Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany., Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia., Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Repromed, Dulwich, SA, Australia., Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia., Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA., Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA., Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium., Neumann S; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia., Phillips J; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Pitsava G; Institute for Clinical and Translational Research, University of California, Irvine, CA, USA., Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia., Rehm HL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium., Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Rius R; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia., Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Bucks, UK., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Temple SE; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; School of Women's and Childrens's Health, University of New South Wales, Sydney, NSW, Australia., Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia., Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia., VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA., Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA., Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA., White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA., Xiao C; Department of Neurology, University of California, Irvine, CA, USA., Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK., Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA., Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA., Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK., Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK., Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany., MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia., Howson JM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK., Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA., O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 09. Date of Electronic Publication: 2024 Apr 09.
Autor:
Brooks D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Burke E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA.; Advanced Technology Core for Macromolecular X-Ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Eble TN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Dhar SU; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Emrick L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Bick D; Hudson Alpha Institute for Biotechnology, Huntsville, AL, USA., Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Macnamara E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Casas-Alba D; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Armstrong J; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Prat C; Department of Dermatology, Hospital Sant Joan de Deu, Esplugues de Llobregat, 08950, Barcelona, Spain., Martínez-Monseny AF; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain., Palau F; Department of Genetic Medicine, Pediatric Institute of Rare Diseases (IPER), CIBER on Rare Diseases (CIBERER), Hospital Sant Joan de DéuEsplugues de Llobregat, 08950, Barcelona, Spain.; Division of Pediatrics, University of Barcelona School of Medicine and Health Sciences, Barcelona, Spain., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Baylor Genetics, Houston, TX, USA., Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lalani S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Texas Children's Hospital, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. mokry@bcm.edu., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. burrage@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. burrage@bcm.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 279-291. Date of Electronic Publication: 2024 Mar 07.
Autor:
Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.; Current affiliation: State Key Laboratory of Cellular Stress Biology, School of Life Sciences, Faculty of Medicine and Life Sciences, Xiamen University, Xiamen 361102, China., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Worley KC; 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., Blieden LS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA., Chen WL; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.; Current affiliation: Children's National Medical Center and George Washington University, Washington DC 20010, USA., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia 71013, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples 80131, Italy., Mandriani B; Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', Bari 70121, Italy., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Li-Kroeger D; Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA., Dutta D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA., Glass IA; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA., Blue E; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Prontera P; Medical Genetics Unit, Hospital of Perugia, Perugia 06129, Italy., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 09. Date of Electronic Publication: 2024 Jan 09.
Autor:
Ward SK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Wadley A; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Tsai CA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Emrick L; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Fisher K; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Glaser K; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Invitae, San Francisco, California, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; The University of Texas Health Science Center at Houston, Houston, Texas, USA., Rohena L; Department of Pediatrics, Division of Medical Genetics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. Date of Electronic Publication: 2023 Sep 25.
Autor:
Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America., Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America., Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).