换一批
第一作者：
Maimuna S,Paul
第一单位：
Department of Pediatrics, Section 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; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA.
作者：
Maimuna S,Paul [1]
;
Sydney L,Michener [1]
;
Hongling,Pan [2]
;
Hiuling,Chan [3]
;
Jessica M,Pfliger [4]
;
Jill A,Rosenfeld [5]
;
Vanesa C,Lerma [6]
;
Alyssa,Tran [5]
;
Megan A,Longley [7]
;
Richard A,Lewis [8]
;
Monika,Weisz-Hubshman [5]
;
Mir Reza,Bekheirnia [9]
;
Nasim,Bekheirnia [10]
;
Lauren,Massingham [11]
;
Michael,Zech [12]
;
Matias,Wagner [13]
;
Hartmut,Engels [14]
;
Kirsten,Cremer [15]
;
Elisabeth,Mangold [15]
;
Sophia,Peters [15]
;
Jessica,Trautmann [15]
;
Jessica L,Mester [16]
;
Maria J,Guillen Sacoto [16]
;
Richard,Person [16]
;
Pamela P,McDonnell [17]
;
Stacey R,Cohen [18]
;
Laina,Lusk [18]
;
Ana S A,Cohen [19]
;
Jean-Baptiste,Le Pichon [20]
;
Tomi,Pastinen [21]
;
Dihong,Zhou [22]
;
Kendra,Engleman [22]
;
Caroline,Racine [23]
;
Laurence,Faivre [24]
;
Sébastien,Moutton [24]
;
Anne-Sophie,Denommé-Pichon [23]
;
Hyun Yong,Koh [25]
;
Annapurna,Poduri [26]
;
Jeffrey,Bolton [26]
;
Cordula,Knopp [27]
;
Dong Sun,Julia Suh [27]
;
Andrea,Maier [28]
;
Mehran Beiraghi,Toosi [29]
;
Ehsan Ghayoor,Karimiani [30]
;
Reza,Maroofian [31]
;
Gerald Bradley,Schaefer [32]
;
Vijayalakshmi,Ramakumaran [33]
;
Pradeep,Vasudevan [33]
;
Chitra,Prasad [34]
;
Matthew,Osmond [35]
;
Sarah,Schuhmann [36]
;
Georgia,Vasileiou [36]
;
Sophie,Russ-Hall [37]
;
Ingrid E,Scheffer [38]
;
Gemma L,Carvill [39]
;
Heather,Mefford [40]
;
Undiagnosed Diseases Network [41]
;
Carlos A,Bacino [41]
;
Brendan H,Lee [42]
;
Hsiao-Tuan,Chao
作者单位：
Department of Pediatrics, Section 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; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA.
[1]
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.
[2]
Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA; Augustana College, Rock Island, IL, USA; Summer Undergraduate Research Training (SMART) Program, Baylor College of Medicine, Houston, TX, USA.
[3]
Department of Pediatrics, Section 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; Graduate Program in Electrical and Computer Engineering, Rice University, Houston, TX, USA.
[4]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[5]
Department of Pediatrics, Section 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 Psychology, University of Houston, Houston, TX, USA.
[6]
Department of Pediatrics, Section 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.
[7]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA.
[8]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA.
[9]
Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA.
[10]
Rhode Island Hospital and Hasbro Children's Hospital, Providence, RI, USA.
[11]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany.
[12]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany.
[13]
Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.
[14]
Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany.
[15]
GeneDx, Gaithersburg, MD, USA.
[16]
Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[17]
Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[18]
Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA.
[19]
Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.
[20]
Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA; Children's Mercy Research Institute, Kansas City, MO, USA.
[21]
Children's Mercy Hospital, Kansas City, MO, USA.
[22]
University Hospital, Dijon, France; INSERM UMR1231 GAD "Génétique des Anomalies Du Développement," FHU-TRANSLAD, University of Burgundy, Dijon, France; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France.
[23]
Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, France.
[24]
Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[25]
Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
[26]
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH, Aachen University, Aachen, Germany.
[27]
Medical Treatment Center for Adults with Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany.
[28]
Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
[29]
Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.
[30]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
[31]
University of Arkansas for Medical Sciences; Little Rock, AR, USA.
[32]
LNR Genomics Medicine, University Hospitals of Leicester, Leicester, UK.
[33]
London Health Sciences Centre, and Division of Medical Genetics, Department of Pediatrics, Western University, London, ON, Canada.
[34]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada.
[35]
Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
[36]
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia.
[37]
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC, Melbourne, Australia.
[38]
Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
[39]
Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA.
[40]
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.
[41]
Department of Pediatrics, Section 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; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, 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: chao-lab@bcm.edu.
[42]
医学主题词
成年人(Adult);动物(Animals);人类(Humans);等位基因(Alleles);动物, 基因修饰(Animals, Genetically Modified);果蝇属(Drosophila);果蝇蛋白质类(Drosophila Proteins);细胞内信号肽和蛋白质类(Intracellular Signaling Peptides and Proteins);蛋白质酪氨酸磷酸酶类(Protein Tyrosine Phosphatases)
DOI
10.1016/j.ajhg.2023.12.004
PMID
38181735
发布时间
2025-09-11
- 浏览0
American journal of human genetics
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