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    AJHG

    AJHG

    JournalISSN 0002-9297eISSN 1537-6605中科院 生物学 1区

    年发文量

    研究主题

    论文（42844）

    排序
    1NewDe Novo Variants in the Essential Splicing Factor Gene SRSF3 Cause Variable Developmental Phenotypes
    Jasmin Lisfeld,Ivan K. Chinn,Bo Yuan,Christian Casar, Christian Müller, Eyal Elron, Gal Zaks Hoffer,Naama Orenstein,Kristian Tveten,Julian Delanne,Hana Safraou,Anne-Sophie Denommé-Pichon,
    2026
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    2NewThe Genetic Architecture of Pentanucleotide Repeat Variation and Disease Association
    Isaac R.L. Xu,David Pellerin, Liedewei Van De Vondel,Ben Weisburd,Egor Dolzhenko,Matt C. Danzi,Stephan Zuchner
    2026
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    3NewAccurate Detection of Sub-1% Frequency Somatic Mutations by Whole-Genome Sequencing
    Yeongjun Jang, Stephanie Gardiner,Yifan Wang, Abhiram Natu, Mrunal K. Dehankar,Livia Tomasini,Arijit Panda,Carrie Cibulskis, Lisa Anderson,Tim H.H. Coorens,Ji Won Oh, Alexander E. Urban,
    2026
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    4NewLarge-scale Integration of Functional Assay Data for the Resolution of Germline BRCA1 and BRCA2 Variants of Uncertain Significance
    Paulo C.M. Lyra, Samuel Brito,Michael Parsons, Chunling Hu, Thales C. Nepomuceno, Nam Phuong Nguyen, Lucas Dalcolmo, Marcy E. Richardson, Geise de Oliveira, João da Silva,Laura Caleca, Huaizhi Huang,
    2026
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    5NewLoss of the Human BRIP1 C Terminus Does Not Cause Fanconi Anemia
    Anja Droste,Alexandra Sobeck, Jost Knaup, Isabell Popp,Julia Vodopiutz, Andreas-Robert Janecke, Britta Fiebig, Monika Maringa, Ulrike Faust, Natalie Carter, Robert Maiwald, Leo Kager,
    2026
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    立即登录，查看全部 42844 篇论文

    高被引作者

    作者引用发文
    Mark Daly4908881
    Pamela Sklar4435322
    Pak Chung Sham4239339
    Shaun Purcell4161214
    Paul I W de Bakker4070419
    Manuel A. R. Ferreira387428
    Julian B. Maller375411
    David P Bender375411
    Douglas Easton2382586
    Peter Visscher2322034

    高产作者

    作者引用发文
    M PERICAKVANCE8388237
    James R Lupski14777206
    Arnold Munnich10489175
    Leena Peltonen12140162
    Stylianos E. Antonarakis8563158
    Michael Boehnke12810145
    Jonathan Haines6550144
    Elaine H. Zackai5746136
    Robert E Ferrell7289129
    David H Ledbetter7779125

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