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Akademický článek
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Autor:
Li A, Dearman BL, Crompton KE, Moore TG, Greenwood JE, Li, Ami, Dearman, Bronwyn L, Crompton, Kylie E, Moore, Timothy G, Greenwood, John E
Publikováno v:
Journal of Burn Care & Research; 2009 Jul-Aug, Vol. 30 Issue 4, p717-728, 12p
Autor:
Chernyaeva L; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Ratti G; Humanitas University, Milano, Italy., Teirilä L; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Fudo S; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Rankka U; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Pelkonen A; A.I. Virtanen Institute for Molecular Sciences, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland., Korhonen P; A.I. Virtanen Institute for Molecular Sciences, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland., Leskinen K; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Keskitalo S; Institute of Biotechnology, HiLIFE Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Salokas K; Institute of Biotechnology, HiLIFE Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Gkolfinopoulou C; Institute of Biosciences and Applications, National Center for Scientific Research 'Demokritos', Athens, Greece., Crompton KE; Biosciences Institute, Newcastle University, Newcastle-Upon-Tyne, UK., Javanainen M; Institute of Biotechnology, HiLIFE Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Happonen L; Division of Infection Medicine, Department of Clinical Sciences, Lund University, Lund, Sweden., Varjosalo M; Institute of Biotechnology, HiLIFE Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Malm T; A.I. Virtanen Institute for Molecular Sciences, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland., Leinonen V; Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland and Department of Neurosurgery, Kuopio University Hospital, Kuopio, Finland., Chroni A; Institute of Biosciences and Applications, National Center for Scientific Research 'Demokritos', Athens, Greece., Saavalainen P; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Meri S; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Humanitas University, Milano, Italy., Kajander T; Institute of Biotechnology, HiLIFE Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Wollman AJ; Biosciences Institute, Newcastle University, Newcastle-Upon-Tyne, UK., Nissilä E; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland., Haapasalo K; Department of Bacteriology and Immunology, Medicum and Human Microbiome Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Publikováno v:
EMBO reports [EMBO Rep] 2023 Jul 05; Vol. 24 (7), pp. e56467. Date of Electronic Publication: 2023 May 08.
Autor:
Kayumi S; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Pérez-Jurado LA; Genetics Service, Hospital del Mar Medical Research Institute (IMIM), Network Research Centre for Rare Diseases (CIBERER), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain., Palomares M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Rangu S; Albert Einstein College of Medicine, Bronx, NY; Section of Dermatology, Children's Hospital of Philadelphia, Philadelphia, PA., Sheppard SE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD., Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Kharbanda M; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., Amor DJ; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., McGillivray G; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., García-Miñaúr S; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., van Eyk CL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Jolly LA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; Adelaide Biomedical School, The University of Adelaide, Adelaide, South Australia, Australia., Webber DL; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Barnett CP; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Pozo AD; Instituto de Genética Médica y Molecular (INGEMM), La Paz University Hospital, Network Research Centre for Rare Diseases (CIBERER), Madrid, Spain., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Deardorff M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Departments of Pathology and Laboratory Medicine and Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, CA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Grand K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Robert's Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA., Mark PR; Spectrum Health Medical Genetics, Grand Rapids, MI., Bhoj EJ; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Li D; Center for Applied Genomics, Children's Hospital of Philadelphia Research Institute, Philadelphia, PA., Ortiz-Gonzalez XR; Paediatric and Reproductive Genetics Unit, Women's and Children's Hospital, Adelaide, South Australia, Australia; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Keena B; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Goldberg EM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Perez de Nanclares G; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Pereda A; Molecular (epi)genetics lab, Bioaraba Research Health Institute, Araba University Hospital, Vitoria-Gasteiz, Spain., Llano-Rivas I; Department of Genetics, Hospital de Cruces, Barakaldo, Spain., Arroyo I; Servicio de Neonatología, Hospital San Pedro de Alcántara, Cáceres, Spain., Fernández-Cuesta MÁ; Neuropediatrics, Hospital Universitario de Basurto, Bilbao, Vizcaya, Spain., Thauvin-Robinet C; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Mazel B; Centre de Référence Anomalies du Développement et Syndromes Malformatifs et Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bruel AL; L'Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Laboratoire de Génétique Chromosomique et Moléculaire, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Genetics of Developmental Disorders, Dijon, France., Tress ML; Bioinformatics Unit, Spanish National Cancer Research Centre (CNIO), Madrid, Spain., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Fine AS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD; Department of Neurology, Johns Hopkins University School of Medicine, Kennedy Krieger Institute, Baltimore, MD., Crompton KE; Department of Paediatrics, Melbourne Medical School, The University of Melbourne, Parkville, Victoria, Australia; Murdoch Children's Research Institute, Parkville, Victoria, Australia., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stevens SCJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, Maastricht, the Netherlands., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Lion-François L; Department of Pediatric Neurology, Hospices Civils de Lyon, Lyon, France., Haye D; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France., Piton A; Department of Medical genetics, Hopitaux Universitaires de Strasbourg, France., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France., Srivastava S; Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA., Bassetti J; Department of Pediatrics, Division of Medical Genetics, Weill Cornell Medicine, New York, NY., Muss C; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Gripp KW; Nemours/A.I duPont Hospital for Children, Wilmington, DE., Procopio RA; Department of Ophthalmology, Wills Eye Hospital, Philadelphia, PA., Millan F; GeneDX, Gaithersburg, MD., Morrow MM; GeneDX, Gaithersburg, MD., Assaf M; Banner Children's Specialists Neurology Clinic, Glendale, AZ., Moreno-De-Luca A; Department of Radiology, Autism & Developmental Medicine Institute, Genomic Medicine Institute, Geisinger, Danville, PA., Joss S; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Hamilton MJ; West of Scotland Clinical Genetics Service, Glasgow, United Kingdom., Bertoli M; Northern Genetics Service, Newcastle upon Tyne, United Kingdom., Foulds N; Wessex Clinical Genetics Service, Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital, Southampton, United Kingdom., McKee S; Northern Ireland Regional Genetics Centre, Belfast, United Kingdom., MacLennan AH; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Corbett MA; Adelaide Medical School, The University of Adelaide, Adelaide, South Australia, Australia; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia. Electronic address: mark.corbett@adelaide.edu.au.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2351-2366. Date of Electronic Publication: 2022 Sep 09.
Autor:
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Lewis SA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Shetty S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Nordlie SM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Elie A; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Corbett MA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Norton BY; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., van Eyk CL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK., Guida BS; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Liu J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Pastore S; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Vincent JB; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada., Brunstrom-Hernandez J; One CP Place, Plano, TX, USA., Papavasileiou A; Division of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece., Fahey MC; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Berry JG; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Zhou C; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Heim J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Webber DL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Frank MSB; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Xia L; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhu D; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang B; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Sheth AH; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Doummar D; Sorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Cho M; GeneDx, Gaithersburg, MD, USA., Retterer K; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wang Y; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Waugh JL; Departments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA., Rodan L; Departments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Lin AE; Medical Genetics, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA., Phillips JP; Departments of Pediatrics and Neurology, University of New Mexico, Albuquerque, NM, USA., Feyma T; Division of Pediatric Neurology, Gillette Children's Hospital, St Paul, MN, USA., MacLennan SC; Department of Paediatric Neurology, Women's & Children's Hospital, Adelaide, South Australia, Australia., Vaughan S; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Crompton KE; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reid SM; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reddihough DS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Shang Q; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Gao C; Rehabilitation Department, Children's Hospital of Zhengzhou University/Henan Children's Hospital, Zhengzhou, China., Novak I; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Badawi N; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Wilson YA; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., McIntyre SJ; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Wang X; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Zarnescu DC; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Xing Q; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Zhu C; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Gecz J; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., MacLennan AH; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. kruerm@email.arizona.edu.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA. kruerm@email.arizona.edu.
Publikováno v:
Nature genetics [Nat Genet] 2021 Mar; Vol. 53 (3), pp. 412.
Autor:
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA.; Department of Genetics, Washington University School of Medicine, St Louis, MO, USA., Lewis SA; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Shetty S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Nordlie SM; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Elie A; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Corbett MA; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Norton BY; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., van Eyk CL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Haider S; Department of Pharmaceutical and Biological Chemistry, UCL School of Pharmacy, London, UK., Guida BS; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Magee H; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Liu J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Pastore S; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Vincent JB; Molecular Brain Sciences, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada., Brunstrom-Hernandez J; One CP Place, Plano, TX, USA., Papavasileiou A; Division of Paediatric Neurology, Iaso Children's Hospital, Athens, Greece., Fahey MC; Department of Pediatrics, Monash University, Melbourne, Victoria, Australia., Berry JG; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Harper K; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Zhou C; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Zhang J; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Heim J; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA., Webber DL; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Frank MSB; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Xia L; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Xu Y; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhu D; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Zhang B; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China., Sheth AH; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Castaldi C; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Tikhonova IR; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., López-Giráldez F; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Whalen S; UF de Génétique Clinique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France., Buratti J; Department of Genetics, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France., Doummar D; Sorbonne Université, APHP, Service de Neurologie Pédiatrique et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, Paris, France., Cho M; GeneDx, Gaithersburg, MD, USA., Retterer K; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Wang Y; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Waugh JL; Departments of Pediatrics & Neurology, University of Texas Southwestern and Children's Medical Center of Dallas, Dallas, TX, USA., Rodan L; Departments of Genetics & Genomics and Neurology, Boston Children's Hospital, Boston, MA, USA., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA., Lin AE; Medical Genetics, Department of Pediatrics, MassGeneral Hospital for Children, Boston, MA, USA., Phillips JP; Departments of Pediatrics and Neurology, University of New Mexico, Albuquerque, NM, USA., Feyma T; Division of Pediatric Neurology, Gillette Children's Hospital, St Paul, MN, USA., MacLennan SC; Department of Paediatric Neurology, Women's & Children's Hospital, Adelaide, South Australia, Australia., Vaughan S; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Crompton KE; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reid SM; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Reddihough DS; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Shang Q; Henan Key Laboratory of Child Genetics and Metabolism, Rehabilitation Department, Children's Hospital of Zhengzhou University, Zhengzhou, China., Gao C; Rehabilitation Department, Children's Hospital of Zhengzhou University/Henan Children's Hospital, Zhengzhou, China., Novak I; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Badawi N; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Wilson YA; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., McIntyre SJ; Cerebral Palsy Alliance Research Institute, University of Sydney, Sydney, New South Wales, Australia., Mane SM; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Wang X; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Amor DJ; Murdoch Children's Research Institute and University of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Victoria, Australia., Zarnescu DC; Departments of Molecular & Cellular Biology and Neuroscience, University of Arizona, Tucson, AZ, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin-Madison, Madison, WI, USA., Xing Q; Institute of Biomedical Science and Children's Hospital, and Key Laboratory of Reproduction Regulation of the National Population and Family Planning Commission (NPFPC), Shanghai Institute of Planned Parenthood Research (SIPPR), IRD, Fudan University, Shanghai, China., Zhu C; Henan Key Laboratory of Child Brain Injury, Third Affiliated Hospital of Zhengzhou University, Zhengzhou, China.; Institute of Neuroscience and Physiology, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden., Bilguvar K; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, Rockefeller University, New York, NY, USA., Gecz J; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., MacLennan AH; Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ, USA. kruerm@email.arizona.edu.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ, USA. kruerm@email.arizona.edu.
Publikováno v:
Nature genetics [Nat Genet] 2020 Oct; Vol. 52 (10), pp. 1046-1056. Date of Electronic Publication: 2020 Sep 28.
Autor:
Meehan E; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Harvey A; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Developmental Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Reid SM; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Reddihough DS; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Developmental Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Williams K; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Developmental Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia., Crompton KE; Developmental Disability and Rehabilitation Research, Clinical Sciences, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Omar S; Victorian Paediatric Rehabilitation Service, Melbourne, Victoria, Australia., Scheinberg A; Victorian Paediatric Rehabilitation Service, Melbourne, Victoria, Australia.
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2016 Mar; Vol. 52 (3), pp. 308-14. Date of Electronic Publication: 2015 Nov 26.
Autor:
Graham HK; Orthopaedic Department, The Royal Children's Hospital, 50 Flemington Road, Parkville, Victoria 3052, Australia.; Murdoch Childrens Research Institute, The Royal Children's Hospital, Victoria, Australia.; Department of Paediatrics, University of Melbourne, The Royal Children's Hospital, Victoria, Australia., Rosenbaum P; CanChild Centre, McMaster University, Hamilton, Ontario, Canada., Paneth N; Departments of Epidemiology, Biostatistics and Pediatrics, and Human Development, College of Human Medicine, Michigan State University, East Lansing, Michigan, USA., Dan B; Department of Neurology, Université Libre de Bruxelles (ULB), Brussels, Belgium., Lin JP; Complex Motor Disorders Service, Evelina Children's Hospital, London, UK., Damiano DL; Rehabilitation Medicine Department, National Institutes of Health, Bethesda, Maryland, USA., Becher JG; Department of Rehabilitation Medicine, VU University Medical Center, Amsterdam, The Netherlands., Gaebler-Spira D; Department of Physical Medicine and Rehabilitation and Pediatrics, Feinberg Northwestern School of Medicine, Rehabilitation Institute of Chicago, Chicago, Illinois, USA., Colver A; Institute of Health and Society, Newcastle University, Newcastle upon Tyne, UK., Reddihough DS; Developmental Disability and Rehabilitation Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Victoria, Australia., Crompton KE; Developmental Disability and Rehabilitation Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Victoria, Australia., Lieber RL; Rehabilitation Institute of Chicago, Chicago, Illinois, USA.
Publikováno v:
Nature reviews. Disease primers [Nat Rev Dis Primers] 2016 Jan 07; Vol. 2, pp. 15082. Date of Electronic Publication: 2016 Jan 07.
Autor:
Crompton KE; Developmental Disability & Rehabilitation Research, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia., Elwood N, Kirkland M, Clark P, Novak I, Reddihough D
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2014 Jul; Vol. 50 (7), pp. 540-4. Date of Electronic Publication: 2014 Jun 09.