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    • Research Interests
    Intellectual Disabil...Intellectual DisabilityExome SequencingPotassium ChannelsDevelopmental DelayNeurodevelopmental D...Neurodevelopmental Disorders202020142026
    20152025

    Papers共 56 篇Author StatisticsCo-AuthorSimilar Experts

    By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
    时间
    引用量
    主题
    期刊级别
    合作者
    合作机构
    All202520242023202220212020201920162015
    Identification of De Novo Variants in KCTD10 As a Proposed Cause for Multiple Congenital Anomalies
    Michelle M Morrow,Erin Torti, Bobbi McGivern, Ryan Gates, Mir Reza Bekheirnia,Nasim Bekheirnia, Leandra Folk, Shannon Holtrop, Timothy Blake Palculict, Olivia L Redlich,Adi Reich, Maria J Guillen Sacoto, Lisong Shi,Ingrid M Wentzensen,Kirsty McWalter
    HGG advancespp.100426-100426, (2025)
    Cited0Views0WOSBibtex
    0
    0
    MGA-Related Syndrome: A Proposed Novel Disorder
    Bobbi Mcgivern,Michelle M. Morrow,Erin Torti,Kirsty Mcwalter,Ingrid M. Wentzensen,Kristin G. Monaghan,Amanda Gerard,Laurie Robak,David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy,Paul Kruszka
    HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)
    Cited0Views1WOSBibtex
    0
    1
    Germline De Novo Alterations of RUNX1T1 in Individuals with Neurodevelopmental and Congenital Anomalies
    Erfan Aref-Eshghi, Katherine J. Anderson, Lauren Boulay, Kathleen Brown,Jessica Duis, Christine A. Giummo, Jessica Ogawa,Deanna Alexis Carere,Elizabeth A. Normand, Yaping Qian,Kirsty Mcwalter,Erin Torti
    HUMAN GENETICS AND GENOMICS ADVANCESno. 1 (2025)
    Cited0Views1WOSBibtex
    0
    1
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    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 56

    #Citation: 973

    H-Index: 16

    G-Index: 30

    Sociability: 8

    Diversity: 2

    Activity: 16

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    • 合作者
    • 学生
    • 导师
    Ingrid M Wentzensen合作论文数
    GeneDx Inc, Gaithersburg, MD USA12
    McWalter Kirsty合作论文数
    12
    Jane Juusola合作论文数
    10
    Richard E. Person合作论文数
    Division of Medical Genetics/Department of Medicine, University of Washington School of Medicine10
    Kristin G. Monaghan合作论文数
    10
    Jill Anne Mokry合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine9
    Benjamin Cogné合作论文数
    8
    Henry Houlden合作论文数
    Department of Neuromuscular Diseases, Queen Square Institute of Neurology, UCL;Queen Square Centre for Neuromuscular Diseases, UCL8
    Reza Maroofian合作论文数
    7
    van Gassen Koen合作论文数
    7
    Stephen R. Braddock合作论文数
    7
    Boris Keren合作论文数
    7
    Bertrand Isidor合作论文数
    Unité de Génétique clinique, Service de génétique médicale, Centre Hospitalier Universitaire de Nantes7
    Yue Si合作论文数
    6
    Arthur Sorlin合作论文数
    6
    Wendy Chung合作论文数
    Department of Pediatrics, Columbia University;Department of Pediatrics, Boston Children’s Hospital;Harvard Medical School6
    Fowzan S. Alkuraya (Fowzan Alkuraya)合作论文数
    College of Medicine, Alfaisal University;Department of Translational Genomics, King Faisal Specialist Hospital and Research Center6
    Cyril Mignot合作论文数
    5
    Stephanie Efthymiou合作论文数
    5
    Alice Goldenberg合作论文数
    5
    Sebastien Kury合作论文数
    Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) Nantes5
    Sureni V Mullegama合作论文数
    5
    Carere Deanna Alexis合作论文数
    Brigham and Women's Hospital, Harvard School of Public Health5
    William Dobyns合作论文数
    Department of Pediatrics, Medical School, University of Minnesota;Division of Genetics and Metabolism, University of Minnesota5
    Anita Rauch合作论文数
    Institute of Medical Genetics, University of Zurich5
    Dorothy K. Grange合作论文数
    5
    Eric W. Klee合作论文数
    Mayo Clinic;2 In - vitrogen Corporation;Mayo Clinic, Mayo Clinic5
    Amelie Piton合作论文数
    Institut De Génétique et de Biologie Moléculaire et Cellulaire - Neurogenetics and Translational Medecine, University of Strasbourg5
    Antonio Vitobello合作论文数
    Novartis Research Foundation, Friedrich Miescher Institute for Biomedical Research5
    Christiane Zweier合作论文数
    4
    Raymond J Louie合作论文数
    4
    Bénédicte Gérard合作论文数
    4
    Marije Meuwissen合作论文数
    4
    Rebecca Willaert合作论文数
    4
    Aida Telegrafi合作论文数
    4
    François Lecoquierre合作论文数
    UNIROUEN, Normandie Univ4
    Brendan C Lanpher合作论文数
    4
    Marie Theresa McDonald合作论文数
    Department of Pediatrics, Duke University School of Medicine4
    John G. Pappas合作论文数
    Division of Clinical Genetics, Department of Pediatrics, Grossman School of Medicine, New York University4
    Matias Wagner合作论文数
    Institute of Human Genetics, Helmholtz Zentrum München;Institute of Human Genetics, Technical University Munich;Institute of Neurogenomics, Helmholtz Zentrum München;Institute of Human Genetics, Technical University Munich4
    Stephane Bezieau合作论文数
    4
    Steindl Katharina合作论文数
    4
    Thevenon Julien合作论文数
    4
    Millan Francisca合作论文数
    4
    Vincenzo Salpietro合作论文数
    4
    Ehsan Ghayoor Karimiani合作论文数
    Department of New Sciences and Technology, Mashhad University of Medical Sciences4
    Tianyun Wang (王天云)合作论文数
    4
    Perrine Charles合作论文数
    4
    Faivre Laurence合作论文数
    Faculty of Medicine, University of Bourgogne;Medical Genetics Department, Hopital d'Enfants;Genetics Centre, Children's Hospital, Dijon University Hospital4
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