换一批
换一批
第一作者：
Margot A,Cousin
第一单位：
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.;Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.
作者：
Margot A,Cousin [1]
;
Blake A,Creighton [2]
;
Keith A,Breau [2]
;
Rebecca C,Spillmann [3]
;
Erin,Torti [4]
;
Sruthi,Dontu [2]
;
Swarnendu,Tripathi [5]
;
Deepa,Ajit [2]
;
Reginald J,Edwards [2]
;
Simone,Afriyie [2]
;
Julia C,Bay [2]
;
Kathryn M,Harper [6]
;
Alvaro A,Beltran [7]
;
Lorena J,Munoz [8]
;
Liset,Falcon Rodriguez [2]
;
Michael C,Stankewich [9]
;
Richard E,Person [4]
;
Yue,Si [4]
;
Elizabeth A,Normand [4]
;
Amy,Blevins [4]
;
Alison S,May [10]
;
Louise,Bier [11]
;
Vimla,Aggarwal [12]
;
Grazia M S,Mancini [13]
;
Marjon A,van Slegtenhorst [13]
;
Kirsten,Cremer [14]
;
Jessica,Becker [14]
;
Hartmut,Engels [14]
;
Stefan,Aretz [14]
;
Jennifer J,MacKenzie [15]
;
Eva,Brilstra [16]
;
Koen L I,van Gassen [16]
;
Richard H,van Jaarsveld [16]
;
Renske,Oegema [16]
;
Gretchen M,Parsons [17]
;
Paul,Mark [17]
;
Ingo,Helbig [18]
;
Sarah E,McKeown [19]
;
Robert,Stratton [20]
;
Benjamin,Cogne [21]
;
Bertrand,Isidor [21]
;
Pilar,Cacheiro [22]
;
Damian,Smedley [22]
;
Helen V,Firth [23]
;
Tatjana,Bierhals [24]
;
Katja,Kloth [24]
;
Deike,Weiss [25]
;
Cecilia,Fairley [26]
;
Joseph T,Shieh [27]
;
Amy,Kritzer [28]
;
Parul,Jayakar [29]
;
Evangeline,Kurtz-Nelson [30]
;
Raphael A,Bernier [30]
;
Tianyun,Wang [31]
;
Evan E,Eichler [32]
;
Ingrid M B H,van de Laar [13]
;
Allyn,McConkie-Rosell [3]
;
Marie T,McDonald [3]
;
Jennifer,Kemppainen [33]
;
Brendan C,Lanpher [33]
;
Laura E,Schultz-Rogers [34]
;
Lauren B,Gunderson [33]
;
Pavel N,Pichurin [35]
;
Grace,Yoon [36]
;
Michael,Zech [37]
;
Robert,Jech [38]
;
Juliane,Winkelmann [39]
;
Undiagnosed Diseases Network [40]
;
Genomics England Research Consortium [41]
;
Adriana S,Beltran [42]
;
Michael T,Zimmermann [6]
;
Brenda,Temple [43]
;
Sheryl S,Moy [3]
;
Eric W,Klee [44]
;
Queenie K-G,Tan ;
Damaris N,Lorenzo
作者单位：
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.;Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.
[1]
Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[2]
Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
[3]
GeneDx, Gaithersburg, MD, USA.
[4]
Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
[5]
Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.;Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[6]
Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.;Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[7]
Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[8]
Department of Pathology, Yale University, New Haven, CT, USA.
[9]
Department of Neurology, Columbia University, New York, NY, USA.
[10]
Institute for Genomic Medicine, Columbia University, New York, NY, USA.
[11]
Institute for Genomic Medicine, Columbia University, New York, NY, USA.;Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
[12]
Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
[13]
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
[14]
McMaster University, Hamilton, Ontario, Canada.
[15]
Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
[16]
Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
[17]
Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.;The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
[18]
Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.;The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[19]
Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
[20]
Service de Génétique Médicale, CHU Nantes, Nantes, France.;Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.
[21]
William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.
[22]
Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK.;Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
[23]
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[24]
Neuropediatrics, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
[25]
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
[26]
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.;Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
[27]
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
[28]
Nicklaus Children's Hospital, Miami, FL, USA.
[29]
Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
[30]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
[31]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
[32]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[33]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
[34]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
[35]
Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
[36]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.;Institute of Human Genetics, Technical University of Munich, Munich, Germany.
[37]
Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
[38]
Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.;Institute of Human Genetics, Technical University of Munich, Munich, Germany.;Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.;Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
[39]
Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.;Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.;Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[40]
Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.;Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.;Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
[41]
Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[42]
Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.;Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.;Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
[43]
Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.;Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.;Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.
[44]
主题词
动物(Animals);基因, 显性(Genes, Dominant);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传变异(Genetic Variation);杂合子(Heterozygote);人类(Humans);小鼠(Mice);表型(Phenotype);膜收缩蛋白(Spectrin)
DOI
10.1038/s41588-021-00886-z
PMID
34211179
发布时间
2024-08-12
- 浏览3
Nature genetics
Nature genetics
1006-1021页
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