Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Sierant MC"'
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; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Dong W; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kundishora AJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Panchagnula S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Geisinger, Danville, PA, USA., Furey CG; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, USA., Allocco AA; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Walker RL; Department of Neurology, Center for Autism Research and Treatment, Semel Institute, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Nelson-Williams C; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Smith H; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Dunbar A; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Conine S; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lu Q; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Zeng X; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Sierant MC; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Knight JR; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Sullivan W; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Duy PQ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DeSpenza T; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Reeves BC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Karimy JK; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Marlier A; Department of Neurosurgery, Yale University School of Medicine, 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., Li B; Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA., Peña HP; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Broach JR; Institute for Personalized Medicine, The Penn State College of Medicine, Hershey, PA, USA., Kabachelor EM; CURE Children's Hospital of Uganda, Mbale, Uganda., Ssenyonga P; CURE Children's Hospital of Uganda, Mbale, Uganda., Hehnly C; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Ge L; Department of Biostatistics & Medical Informatics, University of Wisconsin, Madison, WI, USA., Keren B; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et GHUEP Hôpital Trousseau, Sorbonne Université, GRC 'Déficience Intellectuelle et Autisme', Paris, France., Timberlake AT; Hansjörg Wyss Department of Plastic Surgery, New York University Langone Medical Center, New York, NY, USA., Goto J; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mangano FT; Division of Pediatric Neurosurgery, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Johnston JM; Department of Neurosurgery, University of Alabama School of Medicine, Birmingham, AL, USA., Butler WE; Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA., Warf BC; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Smith ER; Department of Neurosurgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Schiff SJ; Departments of Neurosurgery, Engineering Science & Mechanics, and Physics; Center for Neural Engineering and Infectious Disease Dynamics, The Pennsylvania State University, University Park, PA, USA., Limbrick DD Jr; Department of Neurological Surgery and Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Heuer G; Department of Neurosurgery, Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Division of Neurosurgery, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Jackson EM; Department of Neurosurgery, Johns Hopkins School of Medicine, Baltimore, MD, USA., Iskandar BJ; Department of Neurological Surgery, University of Wisconsin Medical School, Madison, WI, USA., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale University, New Haven, CT, USA., Haider S; Department of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, London, UK., Guclu B; Kartal Dr. Lutfi Kirdar Research and Training Hospital, Istanbul, Turkey., Bayri Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Sahin Y; Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey., Duncan CC; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Apuzzo MLJ; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., DiLuna ML; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Hoffman EJ; Yale Child Study Center, Yale University School of Medicine, New Haven, CT, USA., Sestan N; Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA., Ment LR; Department of Pediatrics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurology, Yale University School of Medicine, New Haven, CT, USA., Alper SL; Division of Nephrology and Center for Vascular Biology Research, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, MA, USA., 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., Geschwind DH; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA, USA., Günel M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA., Lifton RP; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Kahle KT; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Neurosurgery, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.; Department of Cellular & Molecular Physiology, Yale University School of Medicine, New Haven, CT, USA. kristopher.kahle@yale.edu.
Publikováno v:
Nature medicine [Nat Med] 2020 Nov; Vol. 26 (11), pp. 1754-1765. Date of Electronic Publication: 2020 Oct 19.
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:
Dong W; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Jin SC; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Allocco A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Zeng X; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA., Sheth AH; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Panchagnula S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Castonguay A; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Lorenzo LÉ; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Islam B; University College London, School of Pharmacy, London, England., Brindle G; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Bachand K; CERVO Brain Research Centre, Université Laval, Québec, QC, Canada., Hu J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Sularz A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Gaillard J; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Choi J; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Biomedical Sciences, Korea University College of Medicine, 02841 Seoul, Korea., Dunbar A; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Nelson-Williams C; Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Kiziltug E; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Furey CG; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Conine S; Department of Neurosurgery, Yale School of Medicine, New Haven, CT, USA., Duy PQ; 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Publikováno v:
IScience [iScience] 2020 Sep 11; Vol. 23 (10), pp. 101552. Date of Electronic Publication: 2020 Sep 11 (Print Publication: 2020).
Autor:
Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA., Choi J; Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY 10065, USA.
Publikováno v:
Genomics & informatics [Genomics Inform] 2018 Dec; Vol. 16 (4), pp. e17. Date of Electronic Publication: 2018 Dec 28.
Autor:
Jin SC; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Homsy J; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA., Zaidi S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Lu Q; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA., Morton S; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, Boston, Massachusetts, USA., DePalma SR; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Zeng X; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Qi H; Department of Applied Physics and Applied Mathematics, Columbia University, New York, New York, USA., Chang W; Department of Pediatrics, Columbia University Medical Center, New York, New York, USA., Sierant MC; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Hung WC; 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Division of Pediatric Cardiology, University of Michigan, Ann Arbor, Michigan, USA., Gaynor JW; Department of Pediatric Cardiac Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Deanfield J; Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK., Giardini A; Department of Cardiology, University College London and Great Ormond Street Hospital, London, UK., Porter GA Jr; Department of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, New York, USA., Srivastava D; Gladstone Institute of Cardiovascular Disease, San Francisco, California, USA.; Roddenberry Stem Cell Center at Gladstone, San Francisco, California, USA.; Departments of Pediatrics and Biochemistry & Biophysics, University of California, San Francisco, San Francisco, California, USA., Lo CW; Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA., Shen Y; Departments of Systems Biology and Biomedical Informatics, Columbia University Medical Center, New York, New York, USA., Watkins WS; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA., Yandell M; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA.; USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, Utah, USA., Yost HJ; Department of Human Genetics, Eccles Institute of Human Genetics, University of Utah and School of Medicine, Salt Lake City, Utah, USA., Tristani-Firouzi M; Division of Pediatric Cardiology, University of Utah, Salt Lake City, Utah, USA., Newburger JW; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA., Roberts AE; Department of Cardiology, Boston Children's Hospital, Boston, Massachusetts, USA., Kim R; Pediatric Cardiac Surgery, Children's Hospital of Los Angeles, Los Angeles, California, USA., Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, Connecticut, USA., Kaltman JR; Heart Development and Structural Diseases Branch, Division of Cardiovascular Sciences, NHLBI/NIH, Bethesda, Maryland, USA., Goldmuntz E; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York, USA., Seidman JG; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA., Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Seidman CE; Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.; Cardiovascular Division, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Harvard University, Boston, Massachusetts, USA., Lifton RP; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Laboratory of Human Genetics and Genomics, The Rockefeller University, New York, New York, USA., Brueckner M; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.; Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
Publikováno v:
Nature genetics [Nat Genet] 2017 Nov; Vol. 49 (11), pp. 1593-1601. Date of Electronic Publication: 2017 Oct 09.
Autor:
Shi L; Department of Cell and Developmental Biology and., Lin YH; Department of Cell and Developmental Biology and Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Sierant MC; Department of Cell and Developmental Biology and., Zhu F; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Cui S; Department of Cell and Developmental Biology and., Guan Y; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Sartor MA; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, MI 48109, USA., Tanabe O; Department of Cell and Developmental Biology and Department of Integrative Genomics, Tohoku Medical Megabank, Tohoku University, 2-1 Seiryo-machi, Sendai 980-8573, Japan., Lim KC; Department of Cell and Developmental Biology and., Engel JD; Department of Cell and Developmental Biology and engel@umich.edu.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2014 Sep 01; Vol. 23 (17), pp. 4528-42. Date of Electronic Publication: 2014 Apr 29.
Autor:
Shi L; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Sierant MC; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Gurdziel K; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Zhu F; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Cui S; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Kolodziej KE; PharmaMatch, Amsterdam, Netherlands., Strouboulis J; Institute of Molecular Oncology, BSRC Alexander Fleming, Varkiza, Greece., Guan Y; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Tanabe O; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America; Department of Integrative Genomics, Tohoku Medical Megabank, Tohoku University, Sendai, Japan., Lim KC; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America., Engel JD; Department of Cell and Developmental Biology, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2014 May 08; Vol. 10 (5), pp. e1004339. Date of Electronic Publication: 2014 May 08 (Print Publication: 2014).