换一批Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
第一作者：
Paul C,Marcogliese
第一单位：
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA.
作者：
Paul C,Marcogliese [1]
;
Samantha L,Deal [2]
;
Jonathan,Andrews [1]
;
J Michael,Harnish [1]
;
V Hemanjani,Bhavana [1]
;
Hillary K,Graves [1]
;
Sharayu,Jangam [1]
;
Xi,Luo [3]
;
Ning,Liu [4]
;
Danqing,Bei [1]
;
Yu-Hsin,Chao [1]
;
Brooke,Hull [1]
;
Pei-Tseng,Lee [1]
;
Hongling,Pan [1]
;
Pradnya,Bhadane [1]
;
Mei-Chu,Huang [1]
;
Colleen M,Longley [2]
;
Hsiao-Tuan,Chao [5]
;
Hyung-Lok,Chung [6]
;
Nele A,Haelterman [1]
;
Oguz,Kanca [1]
;
Sathiya N,Manivannan [1]
;
Linda Z,Rossetti [7]
;
Ryan J,German [1]
;
Amanda,Gerard [8]
;
Eva Maria Christina,Schwaibold [9]
;
Sarah,Fehr [10]
;
Renzo,Guerrini [11]
;
Annalisa,Vetro [11]
;
Eleina,England [12]
;
Chaya N,Murali [8]
;
Tahsin Stefan,Barakat [13]
;
Marieke F,van Dooren [13]
;
Martina,Wilke [13]
;
Marjon,van Slegtenhorst [13]
;
Gaetan,Lesca [14]
;
Isabelle,Sabatier [15]
;
Nicolas,Chatron [14]
;
Catherine A,Brownstein [16]
;
Jill A,Madden [17]
;
Pankaj B,Agrawal [18]
;
Boris,Keren [19]
;
Thomas,Courtin [19]
;
Laurence,Perrin [20]
;
Melanie,Brugger [21]
;
Timo,Roser [22]
;
Steffen,Leiz [23]
;
Frederic Tran,Mau-Them [24]
;
Julian,Delanne [25]
;
Elena,Sukarova-Angelovska [26]
;
Slavica,Trajkova [27]
;
Erik,Rosenhahn [28]
;
Vincent,Strehlow [28]
;
Konrad,Platzer [28]
;
Roberto,Keller [29]
;
Lisa,Pavinato [30]
;
Alfredo,Brusco [31]
;
Jill A,Rosenfeld [32]
;
Ronit,Marom [8]
;
Michael F,Wangler [33]
;
Shinya,Yamamoto [34]
作者单位：
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA.
[1]
Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA.
[2]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Pediatrics, Division of Hematology/Oncology, BCM, Houston, TX 77030, USA.
[3]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
[4]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Department of Pediatrics, Division of Neurology and Developmental Neuroscience, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX 77030, USA; TCH, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA.
[5]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Howard Hughes Medical Institute, Houston, TX 77030, USA.
[6]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA.
[7]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA.
[8]
Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
[9]
Praxis für Humangenetik Tübingen, Tübingen, Germany.
[10]
Neuroscience Department, Children's Hospital Meyer-University of Florence, Florence, Italy.
[11]
The Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
[12]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
[13]
Department of Medical Genetics, Lyon University Hospital, Université Claude Bernard Lyon 1, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France.
[14]
Department of Pediatric Neurology, Lyon University Hospitals, Lyon, France.
[15]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA.
[16]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.
[17]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, USA.
[18]
Genetic Department, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris 75013, France.
[19]
Genetic Department, Robert Debré Hospital, APHP.Nord-Université de Paris, Paris 75019, France.
[20]
Institute of Human Genetics, Technical University Munich, Munich, Germany.
[21]
Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University, Lindwurmstraße 4, 80337 Munich, Germany.
[22]
Department of Pediatrics and Adolescent Medicine, Hospital Dritter Orden, Munich, Germany.
[23]
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France; Laboratoire de Génétique, Innovation en Diagnostic Génomique des Maladies Rares UF6254, Plateau Technique de Biologie, CHU Dijon, 14 Rue Paul Gaffarel, BP 77908, 21079 Dijon, France.
[24]
INSERM U1231, LNC UMR1231 GAD, Burgundy University, 21000 Dijon, France.
[25]
Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia.
[26]
Department of Medical Sciences, University of Torino, Turin, Italy.
[27]
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
[28]
Adult Autism Center, Mental Health Department, Health Unit ASL Città di Torino, Turin, Italy.
[29]
Department of Medical Sciences, University of Torino, Turin, Italy; Institute of Human Genetics and Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
[30]
Department of Medical Sciences, University of Torino, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza, University Hospital, Turin, Italy.
[31]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
[32]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; TCH, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA. Electronic address: mw147467@bcm.edu.
[33]
Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX 77030, USA; Program in Developmental Biology, BCM, Houston, TX 77030, USA; Department of Neuroscience, BCM, Houston, TX 77030, USA; Development, Disease Models & Therapeutics Graduate Program, BCM, Houston, TX 77030, USA. Electronic address: yamamoto@bcm.edu.
[34]
医学主题词
动物(Animals);孤独性障碍(Autistic Disorder);果蝇属(Drosophila);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);受体, 甘氨酸(Receptors, Glycine)
DOI
10.1016/j.celrep.2022.110517
PMID
35294868
发布时间
2024-08-26
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