第一单位：
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.
作者：
Maimuna S,Paul [1]
;
Anna R,Duncan [2]
;
Casie A,Genetti [3]
;
Hongling,Pan [4]
;
Adam,Jackson [5]
;
Patricia E,Grant [6]
;
Jiahai,Shi [7]
;
Michele,Pinelli [8]
;
Nicola,Brunetti-Pierri [8]
;
Alexandra,Garza-Flores [9]
;
Dave,Shahani [10]
;
Russell P,Saneto [11]
;
Giuseppe,Zampino [12]
;
Chiara,Leoni [13]
;
Emanuele,Agolini [14]
;
Antonio,Novelli [14]
;
Ulrike,Blümlein [15]
;
Tobias B,Haack [16]
;
Wolfram,Heinritz [17]
;
Eva,Matzker [15]
;
Bader,Alhaddad [18]
;
Rami,Abou Jamra [19]
;
Tobias,Bartolomaeus [19]
;
Saber,AlHamdan [20]
;
Raphael,Carapito [21]
;
Bertrand,Isidor [22]
;
Seiamak,Bahram [21]
;
Alyssa,Ritter [23]
;
Kosuke,Izumi [23]
;
Ben Pode,Shakked [24]
;
Ortal,Barel [25]
;
Bruria,Ben Zeev [24]
;
Amber,Begtrup [26]
;
Deanna Alexis,Carere [26]
;
Sureni V,Mullegama [26]
;
Timothy Blake,Palculict [26]
;
Daniel G,Calame [27]
;
Katharina,Schwan [28]
;
Alicia R P,Aycinena [28]
;
Rasa,Traberg [29]
;
Genomics England Research Consortium [30]
;
Sofia,Douzgou [31]
;
Harrison,Pirt [32]
;
Naila,Ismayilova [5]
;
Siddharth,Banka [33]
;
Hsiao-Tuan,Chao [34]
;
Pankaj B,Agrawal
作者单位：
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.
[1]
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.
[2]
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.
[3]
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.
[4]
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.
[5]
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.
[6]
Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
[7]
Telethon Institute of Genetics and Medicine, Pozzuoli, Italy; Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
[8]
Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA.
[9]
Department of Neurology and Epileptology, Cook Children's Hospital, Fort Worth, TX 76104, USA.
[10]
Neuroscience Institute, Center for Integrative Brain Research, Departments of Pediatric Neurology and Neurology Seattle Children's Hospital, University of Washington, Seattle, WA, USA.
[11]
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.
[12]
Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy.
[13]
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
[14]
Department of Pediatrics, Carl-Thiem-Klinikum Cottbus, Cottbus, Germany.
[15]
Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
[16]
Praxis für Humangenetik Cottbus, 03048 Cottbus, Germany.
[17]
Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
[18]
Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
[19]
Al Qrayya, Syria.
[20]
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.
[21]
Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, Nantes, France.
[22]
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[23]
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.
[24]
Pediatric Neurology Department, The Edmond and Lilly Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.
[25]
Clinical Genomics Program, GeneDx, Gaithersburg, MD 20877, USA.
[26]
Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
[27]
Kaiser Permanente, San Francisco, CA, USA.
[28]
Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences Kauno klinikos, Kaunas, Lithuania.
[29]
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.
[30]
Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.
[31]
Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK.
[32]
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.
[33]
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.
[34]
DOI
10.1016/j.ajhg.2022.11.011
PMID
36528028
发布时间
2024-09-23
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