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    • Research Interests
    Hereditary Hemorrhag...Hereditary Hemorrhagic TelangiectasiaGeneticsHuman GeneticsIntellectual Disabil...Intellectual DisabilityTelangiectasia2010202020052025
    20042024

    Papers共 124 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
    All20252024202320222021202020192018201720162015201420132012201120102009200820072006
    Identification of Two Novel Non-Coding Variants in Diamond-Blackfan Anemia Syndrome Patients by Whole Genome Sequencing
    Ting Wen, Steven E Boyden, Caleb M Hocutt, Robert G Lewis, Erin E Baldwin,Jennie Vagher, Ashley Andrews, Thomas J Nicholas, Alexander Chapin, Elaine M Fan,Lorenzo D Botto,Pinar Bayrak-Toydemir,Rong Mao,Jessica Meznarich
    Blood advances (2025)
    Cited0Views2WOSBibtex
    0
    2
    The Utah NeoSeq Project: a Collaborative Multidisciplinary Program to Facilitate Genomic Diagnostics in the Neonatal Intensive Care Unit
    Sabrina Malone Jenkins, Rachel N Palmquist，Martin Tristani-Firouzi,Joshua L Bonkowsky
    NPJ genomic medicineno. 1 (2025): 26-26
    Cited0Views1WOSNATUREBibtex
    0
    1
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    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 124

    #Citation: 4948

    H-Index: 33

    G-Index: 69

    Sociability: 7

    Diversity: 3

    Activity: 10

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    • 合作者
    • 学生
    • 导师
    Rong Mao (毛瑢)合作论文数
    35
    Jamie Mcdonald合作论文数
    31
    Whitney Wooderchak-Donahue合作论文数
    25
    David K. Stevenson合作论文数
    Department of Pediatrics, Stanford University School of Medicine15
    Christine E Miller合作论文数
    11
    Lorenzo D. Botto合作论文数
    Division of Medical Genetics, Department of Pediatrics, School of Medicine, University of Utah11
    John C Carey合作论文数
    Division of Medical Ethics, University of Utah;Department of Pediatrics, School of Medicine, University of Utah11
    Elaine Lyon合作论文数
    10
    Steven E Boyden合作论文数
    9
    Nicholas J Thomas合作论文数
    9
    Andrew Farrell合作论文数
    Univ Utah, USTAR Ctr Genet Discovery, Salt Lake City, UT USA9
    Bonkowsky Joshua L合作论文数
    Div Pediat Neurol, Univ Utah9
    Tracey Lewis合作论文数
    9
    Hunter Best合作论文数
    9
    Tatiana Tvrdik合作论文数
    8
    Ashley Andrews合作论文数
    8
    Barry Moore合作论文数
    Univ Utah, Dept Human Genet, Salt Lake City, UT 84112 USA8
    Carmelo Bernabeu合作论文数
    Centro de Investigaciones Biologicas8
    Rachel Palmquist合作论文数
    7
    Sabrina Malone Jenkins合作论文数
    7
    Matt Velinder合作论文数
    Univ Utah, Salt Lake City, UT 84112 USA7
    Damjanovich Kristy合作论文数
    7
    Nicola Longo合作论文数
    Department of Pediatrics, University of Utah7
    K. Noble合作论文数
    Department of Entomology, University of Illinois7
    Ting Wen合作论文数
    6
    Shawn Rynearson合作论文数
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA.6
    Grimmer J Fredrik合作论文数
    Div Otolaryngol, Univ Utah6
    Friederike Gedge合作论文数
    6
    David Stevenson合作论文数
    Department of Pediatrics, Stanford University6
    Gabor T. Marth合作论文数
    Department of Biology, Boston College6
    Carson Holt合作论文数
    Eccles Institute of Human Genetics, University of Utah6
    Makenzie Fulmer合作论文数
    5
    Lucilla Pizzo合作论文数
    Penn State Univ, Dept Biochem & Mol Biol, University Pk, PA 16802 USA5
    Alistair Ward合作论文数
    Frameshift Labs Inc5
    David Viskochil合作论文数
    5
    VanSant-Webb Chad合作论文数
    5
    Birgit Funke合作论文数
    Harvard Partners Center for Genetics and Genomics, Boston, MA, United States5
    Reha M Toydemir合作论文数
    5
    Alan Rope合作论文数
    5
    Desiree DeMille合作论文数
    4
    Eric Fredrickson合作论文数
    4
    Dawn Bentley合作论文数
    4
    Brian J Shayota合作论文数
    4
    Betsy Ostrander合作论文数
    4
    Colleen Carlston合作论文数
    4
    Brendan O'Fallon合作论文数
    ARUP Inst Clin & Expt Pathol4
    Kelli Sumner合作论文数
    4
    Steven B Bleyl合作论文数
    4
    Heidi Rehm合作论文数
    Department of Medicine, Massachusetts General Hospital;Broad Institute;Center for Genomic Medicine, Mass General Research Institute;Harvard Medical School4
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