المؤلفون: Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA., Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Ziats C; Shodair Children's Hospital, Helena, MT, USA., Have J; Shodair Children's Hospital, Helena, MT, USA., Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA., Steel D; UCL Great Ormond Street Institute of Child Health, London, UK., Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK., Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA., Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Douglas J; Harvard Medical School, Boston, MA, USA., Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA., Longo N; University of Utah, Salt Lake City, UT, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany., Balci T; University of Western Ontario, London, ON, Canada., Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands., Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands., Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands., Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Synodinos JT; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece., Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France., Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Au B; University of Calgary, Calgary, AB, Canada., Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia., Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA., James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA., Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France., Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Guyader GLE; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France., Kaplan J; Nemours Children's Health, Wilmington, DE, USA., Muss C; Nemours Children's Health, Wilmington, DE, USA., Carere DA; GeneDx, Gaithersburg, MD, USA., Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu., Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 1032.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Layo-Carris DE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lubin EE; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sangree AK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Clark KJ; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Durham EL; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gonzalez EM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Smith S; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Angireddy R; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wang XM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Weiss E; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Toutain A; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Damseh N; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada., Velasco D; Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA., Valenzuela I; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics and Rare Disease Unit Hospital Vall d'Hebron, Barcelona, Spain.; Medicine Genetics Group, Vall Hebron Research Institute, Barcelona, Spain., Ziats C; Shodair Children's Hospital, Helena, MT, USA., Have J; Shodair Children's Hospital, Helena, MT, USA., Clarkson K; Greenwood Genetic Center, Greenwood, SC, USA., Steel D; UCL Great Ormond Street Institute of Child Health, London, UK., Kurian M; UCL Great Ormond Street Institute of Child Health, London, UK., Barwick K; UCL Great Ormond Street Institute of Child Health, London, UK., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Dagli AI; Orlando Health, Arnold Palmer Hospital For Children, Orlando, FL, USA., Nowaczyk MJM; McMaster University Medical Centre, Hamilton, ON, Canada., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendová Š; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Prchalova D; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Baxová A; Charles University First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Nowak CB; Division of Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA, USA., Douglas J; Harvard Medical School, Boston, MA, USA., Chung WK; Harvard Medical School, Boston, MA, USA.; Boston Children's Hospital, Boston, MA, USA., Longo N; University of Utah, Salt Lake City, UT, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Averdunk L; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Heinrich-Heine-University Düsseldorf, Medical Faculty, Düsseldorf, Germany., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Zweier C; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany.; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, Switzerland., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), 91054, Erlangen, Germany., Balci T; University of Western Ontario, London, ON, Canada., Simon M; Department of Genetics, University Medical Center, Utrecht, Netherlands., Kroes HY; Department of Genetics, University Medical Center, Utrecht, Netherlands., Wiesener A; Department of Genetics, University Medical Center, Utrecht, Netherlands., Vasileiou G; Department of Genetics, University Medical Center, Utrecht, Netherlands., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Veltra D; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Traeger Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Voudris KA; Second Department of Paediatrics, University of Athens, 'P & A Kyriakou' Children's Hospital, Athens, Greece., Vuillaume ML; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Gueguen P; Service de Génétique, CHU de Tours, Tours, France.; UMR1253, iBrain, Inserm, University of Tours, Tours, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Derive N; Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France., Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France., Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France., Au B; University of Calgary, Calgary, AB, Canada., Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Wallis M; Tasmanian Clinical Genetics Service, Tasmanian Health Service, Hobart, TAS, Australia.; School of Medicine and Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS, Australia., Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia., Majdoub F; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Medical Genetics Department, University Hedi Chaker Hospital of Sfax, Sfax, Tunisia., Smal N; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Weckhuysen S; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, Antwerp, Belgium.; Applied and Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Science, University of Antwerp, Antwerp, Belgium.; NEURO Research Centre of Excellence, University of Antwerp, Antwerp, Belgium., Schoonjans AS; Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Kooy RF; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Meuwissen M; Department of Pediatrics, Duke University Hospital, Durham, NC, USA.; Center of Medical Genetics, Antwerp University Hospital/University of Antwerp, Edegem, Belgium., Cocanougher BT; Department of Pediatrics, Duke University Hospital, Durham, NC, USA., Taylor K; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., Pizoli CE; Division of Pediatric Neurology, Duke University Hospital, Durham, NC, USA., McDonald MT; Division of Medical Genetics, Duke University Hospital, Durham, NC, USA., James P; DMG Children's Rehabilitative Services, Phoenix, AZ, USA., Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Littlejohn R; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA., Borja NA; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., Thorson W; John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, USA., King K; Genetics Department, Mary Bridge Children's Hospital, Multicare Health System, Tacoma, WA, USA., Stoeva R; Medical genetics department, Centre Hospitalier, Le Mans, France., Suerink M; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Nibbeling E; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands., Baskin S; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., L E Guyader G; Service de Génétique médicale, Centre Labellisé Anomalies du Développement-Ouest Site, Poitiers, France., Kaplan J; Nemours Children's Health, Wilmington, DE, USA., Muss C; Nemours Children's Health, Wilmington, DE, USA., Carere DA; GeneDx, Gaithersburg, MD, USA., Bhoj EJK; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. bhoje@chop.edu., Bryant LM; Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug; Vol. 32 (8), pp. 928-937. Date of Electronic Publication: 2024 Apr 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Phenotype* , Histones*/genetics, Humans ; Male ; Female ; Child ; Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Child, Preschool ; Adolescent ; Adult ; Intellectual Disability/genetics ; Intellectual Disability/pathology

المؤلفون: Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Poke G; Genetic Health Service New Zealand, Wellington, New Zealand., Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel., Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA., Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy., Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA., Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA., Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German., Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany., Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France., Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France., Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Januel L; Department of Genetics, Lyon University Hospital, Lyon, France., Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1330-1351. Date of Electronic Publication: 2024 May 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Epilepsy*/genetics , Neurodevelopmental Disorders*/genetics , Ubiquitin-Protein Ligases*/metabolism, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Male ; Developmental Disabilities/genetics ; DNA Methylation/genetics ; Epigenesis, Genetic ; Histones/metabolism ; Histones/genetics ; Induced Pluripotent Stem Cells/metabolism ; Intellectual Disability/genetics ; Phenotype

المؤلفون: Nicastro M, Vermeer AMC, Postema PG, Tadros R, Bowling FZ, Aegisdottir HM, Tragante V, Mach L, Postma AV, Lodder EM, van Duijvenboden K, Zwart R, Beekman L, Wu L, van der Zwaag PA, Alders M, Allouba M, Aguib Y, Santomel JL, de Una D, Monserrat L, Miranda AMA, Kanemaru K, Cranley J, van Zeggeren IE, Aronica EMA, Ripolone M, Zanotti S, Sveinbjornsson G, Ivarsdottir EV, Hólm H, Guðbjartsson DF, Skúladóttir ÁT, Stefánsson K, Nadauld L, Knowlton KU, Ostrowski SR, Sørensen E, Vesterager Pedersen OB, Ghouse J, Rand S, Bundgaard H, Ullum H, Erikstrup C, Aagaard B, Bruun MT, Christiansen M, Jensen HK, Carere DA, Cummings CT, Fishler K, Tøring PM, Brusgaard K, Juul TM, Saaby L, Winkel BG, Mogensen J, Fortunato F, Comi GP, Ronchi D, van Tintelen JP, Noseda M, Airola MV, Christiaans I, Wilde AAM, Wilders R, Clur SA, Verkerk AO, Bezzina CR, Lahrouchi N

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 05. Date of Electronic Publication: 2024 Jul 05.

نوع المنشور: Journal Article; Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Mullegama SV, Kiernan KA, Torti E, Pavlovsky E, Tilton N, Sekula A, Gao H, Alaimo JT, Engleman K, Rush ET, Blocker K, Dipple KM, Fettig VM, Hare H, Glass I, Grange DK, Griffin M, Phornphutkul C, Massingham L, Mehta L, Miller DE, Thies J, Merritt JL 2nd, Muller E 2nd, Osmond M, Sawyer SL, Slaugh R, Hickey RE, Wolf B, Choudhary S, Simonović M, Zhang Y, Palculict TB, Telegrafi A, Carere DA, Wentzensen IM, Morrow MM, Monaghan KG, Juusola J, Yang J

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Jun 06; Vol. 111 (6), pp. 1240. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA. Electronic address: smullegama@genedx.com., Kiernan KA; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Torti E; GeneDx, Gaithersburg, MD 20877, USA., Pavlovsky E; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Tilton N; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Sekula A; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Gao H; GeneDx, Gaithersburg, MD 20877, USA., Alaimo JT; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Rush ET; Department of Pediatrics, University of Missouri Kansas City, School of Medicine, Kansas City, MO, USA; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, KS, USA., Blocker K; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Fettig VM; Center for Inherited Cardiovascular Disease, Cardiovascular Genetics Program, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Hare H; Northeastern Ontario Medical Genetics Program, Health Sciences, North Sudbury, ON, Canada., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Griffin M; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Phornphutkul C; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Massingham L; Division of Genetics, Department of Pediatrics, Alpert School of Medicine at Brown University, Providence, RI, USA., Mehta L; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA., Merritt JL 2nd; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA, USA., Muller E 2nd; Division of Clinical Genetics, Stanford Children's Health, San Francisco, CA, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Sawyer SL; Department of Pediatrics, University of Ottawa, Ottawa, ON, Canada., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Hickey RE; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Wolf B; Department of Pediatrics, Division of Genetics, Birth Defects and Metabolism, Anne & Robert H. Lurie Children's Hospital, Chicago, IL, USA., Choudhary S; Department of Molecular and Cellular Biology, College of Osteopathic Medicine, Sam Houston State University, Conroe, TX 77304, USA., Simonović M; Department of Biochemistry and Molecular Genetics, University of Illinois at Chicago, Chicago, IL 60607, USA., Zhang Y; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA., Palculict TB; GeneDx, Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Morrow MM; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Yang J; Department of Internal Medicine, University of Texas Medical Branch, Galveston, TX 77555, USA. Electronic address: junyang@utmb.edu., Juusola J; GeneDx, Gaithersburg, MD 20877, USA.

مؤلفون مشاركون: Care4Rare Canada Consortium, Undiagnosed Diseases Network

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 778-790. Date of Electronic Publication: 2024 Mar 25.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/genetics , Musculoskeletal Abnormalities*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Child ; Humans ; Developmental Disabilities/genetics ; Exons ; Mammals/genetics ; Muscle Hypotonia/genetics ; Neuroblastoma/genetics ; Reactive Oxygen Species

المؤلفون: Shepherdson JL; Medical Scientist Training Program, Washington University School of Medicine, St. Louis, MO, USA., Hutchison K; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Don DW; Department of Biology, Chungnam National University, Daejeon 34134, Korea., McGillivray G; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Choi TI; Department of Biology, Chungnam National University, Daejeon 34134, Korea., Allan CA; Hudson Institute of Medical Research, Monash University, and Department of Endocrinology, Monash Health, Melbourne, Australia., Amor DJ; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Basel DG; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., Buch LD; Greenwood Genetic Center, Greenwood, SC, USA., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Carroll R; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK., Crawford A; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Dunø M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Gilfillan CP; Eastern Health Clinical School, Monash University, Melbourne, VIC, Australia; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Gold NB; Harvard Medical School, Boston, MA, USA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Boston, MA, USA., Gripp KW; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Hobson E; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Holtz AM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Innes AM; Departments of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Amel Riazat Kesh L; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Department of Clinical Genetics, Chapel Allerton Hospital, Leeds, UK., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du Thorax, 44000 Nantes, France., Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France., Lockhart P; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Maraval J; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France; INSERM UMR1231, Equipe GAD, Université de Bourgogne-Franche Comté, 21000 Dijon, France., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., McCarrier J; Division of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA., McCarthy J; Department of Endocrinology, Eastern Health, Box Hill Hospital, Melbourne, VIC, Australia., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo 162-8655, Japan., Moey LH; Department of Genetics, Penang General Hospital, George Town, Penang, Malaysia., Németh AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Patel R; Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA., Pope K; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA., Shaw M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA., Taylor JP; Medical Genomics Research, Illumina Inc, San Diego, CA, USA., Wadman E; Division of Medical Genetics, Nemours Children's Hospital, Wilmington, DE, USA., Wakeling E; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., White SM; Victorian Clinical Genetics Services, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Parkville, VIC 3052, Australia; Department of Paediatrics, The University of Melbourne, Parkville 3052, VIC, Australia., Wong LC; Medical Genetics, Kaiser Permanente Downey Medical Center, Downey, CA, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Corbett MA; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia; South Australian Health and Medical Research Institute, Adelaide, SA, Australia., Nicolet CM; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Farnham PJ; Department of Biochemistry and Molecular Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA., Kim CH; Department of Biology, Chungnam National University, Daejeon 34134, Korea. Electronic address: zebrakim@cnu.ac.kr., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: mshinawi@wustl.edu.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2024 Mar 07; Vol. 111 (3), pp. 487-508. Date of Electronic Publication: 2024 Feb 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/pathology , Hyperparathyroidism* , Neurodevelopmental Disorders*/genetics, Male ; Female ; Animals ; Humans ; Zebrafish/genetics ; Mutation, Missense/genetics ; Transcription Factors/genetics ; Phenotype

المؤلفون: Fletcher SC; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Hall C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Kennedy TJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Pajusalu S; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Boora U; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Li C; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Oja KT; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Hendrix E; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Westrip CA; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Andrijes R; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Piasecka SK; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Singh M; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., El-Asrag ME; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.; Faculty of Science, Benha University, Benha, Egypt., Ptasinska A; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Tillmann V; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia., Higgs MR; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Carere DA; GeneDx, Gaithersburg, Maryland, USA., Beggs AD; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Langone Medical Center, New York, New York, USA., Smerdon SJ; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Stewart GS; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom., Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Coleman ML; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, United Kingdom.

المصدر: The Journal of clinical investigation [J Clin Invest] 2023 Apr 03; Vol. 133 (7). Date of Electronic Publication: 2023 Apr 03.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

مواضيع طبية MeSH: Histone Demethylases*/genetics , Mixed Function Oxygenases*/genetics , Mixed Function Oxygenases*/metabolism, Humans ; Animals ; Mice ; Protein Processing, Post-Translational

المؤلفون: Paul MS, Duncan AR, Genetti CA, Pan H, Jackson A, Grant PE, Shi J, Pinelli M, Brunetti-Pierri N, Garza-Flores A, Shahani D, Saneto RP, Zampino G, Leoni C, Agolini E, Novelli A, Blümlein Tobias B Haack U, Heinritz W, Matzker E, Alhaddad B, Jamra RA, Bartolomaeus T, AlHamdan S, Carapito R, Isidor B, Bahram S, Ritter A, Izumi K, Shakked BP, Barel O, Ben Zeev B, Begtrup A, Carere DA, Mullegama SV, Palculict TB, Calame DG, Schwan K, Aycinena ARP, Traberg R, Douzgou S, Pirt H, Ismayilova N, Banka S, Chao HT, Agrawal PB

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Mar 02; Vol. 110 (3), pp. 548.

نوع المنشور: Published Erratum

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: Paul MS; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Duncan AR; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Neonatology and Newborn Medicine, Massachusetts General Hospital for Children, Boston, MA, USA., Genetti CA; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Pan H; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Grant PE; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Department of Radiology, Boston Children's Hospital, Boston, MA, USA., Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore., Pinelli M; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy., Garza-Flores A; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., Shahani D; Department of Neurology and Epileptology, Cook Children's Hospital, Fort Worth, TX 76104, USA., Saneto RP; Neuroscience Institute, Center for Integrative Brain Research, Departments of Pediatric Neurology and Neurology Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Zampino G; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Catholic University of the Sacred Heart, Faculty of Medicine and Surgery, Rome, Italy., Leoni C; Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Blümlein U; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany., Haack TB; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany., Heinritz W; Praxis für Humangenetik Cottbus, 03048 Cottbus, Germany., Matzker E; Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany., Alhaddad B; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Bartolomaeus T; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., AlHamdan S; Al Qrayya, Syria., Carapito R; Laboratoire 'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), ITI TRANSPLANTEX NG, Université de Strasbourg, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, 1 Place de l'Hôpital, 67091, Strasbourg, France., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France., Bahram S; Laboratoire 'ImmunoRhumatologie Moléculaire, Plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), ITI TRANSPLANTEX NG, Université de Strasbourg, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, 1 Place de l'Hôpital, 67091, Strasbourg, France., Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Shakked BP; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Barel O; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel., Ben Zeev B; Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel., Begtrup A; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Carere DA; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Mullegama SV; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Palculict TB; Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA., Calame DG; Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Schwan K; Kaiser Permanente, San Francisco, CA, USA., Aycinena ARP; Kaiser Permanente, San Francisco, CA, USA., Traberg R; Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Kaunas, Lithuania., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Pirt H; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK., Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Chao HT; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA. Electronic address: hc140077@bcm.edu., Agrawal PB; Division of Newborn Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. Electronic address: pankaj.agrawal@enders.tch.harvard.edu.

مؤلفون مشاركون: Genomics England Research Consortium

المصدر: American journal of human genetics [Am J Hum Genet] 2023 Jan 05; Vol. 110 (1), pp. 120-145. Date of Electronic Publication: 2022 Dec 16.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila Proteins*/genetics , Epilepsy*/genetics , Intellectual Disability*/genetics , Neurodevelopmental Disorders*/genetics, Animals ; Humans ; Drosophila/genetics ; Drosophila melanogaster/genetics ; Drosophila melanogaster/metabolism ; Eukaryotic Initiation Factor-4A/genetics ; Muscle Hypotonia/genetics ; RNA, Messenger/genetics ; RNA, Messenger/metabolism