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    • Research Interests
    DrosophilaIntellectual Disabil...Intellectual DisabilityDevelopmental DelayFunctional GenomicsExome Sequencing2015202020122025
    20052024

    Papers共 158 篇Projects共 8 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
    All20252024202320222021202020192018201720162015201420132012201120102009200720052004
    O24: Heterozygous De Novo Variants in CDKL1 and CDKL2 Cause Neuroregressive Phenotypes in Human and Drosophila and Are Dominant Negative Alleles
    Ali H. Bereshneh, Jonathan Andrews, Daniel Eberl,Guney Bademci, Nicholas Borja, Stephanie Bivona,Shinya Yamamoto,Michael F. Wangler,Shane McKee,Mustafa Tekin,Wendy Chung, Hugo Bellen,Oguz Kanca
    Genetics in Medicine Open (2025): 102100
    Cited0Views1Bibtex
    0
    1
    De Novo and Inherited Variants in DDX39B Cause a Novel Neurodevelopmental Syndrome
    Kevin T A Booth,Sharayu V Jangam， Brian H Y Chung,Francesco Vetrini
    Brain a journal of neurology (2025)
    Cited0Views3Bibtex
    0
    3
    O34: Precision Medicine Models for Rare and Undiagnosed Mendelian Disorders
    Lindsay Burrage,Denise Lanza, Jill Rosenfeld,Shinya Yamamoto,Michael F. Wangler, Hugo Bellen,Oguz Kanca,Jeffrey Rogers, Matthew Roth, Ramin Zahedi Darshoori, Vivek Ramanathan,Uma Ramamurthy, Jennifer Posey, Sandesh Nagamani,Aleksandar Milosavljevic, Jason Heaney
    Genetics in Medicine Open (2025): 102110
    Cited0Views1Bibtex
    0
    1
    De Novo Variants in CDKL1 and CDKL2 Are Associated with Neurodevelopmental Symptoms
    Ali H Bereshneh,Jonathan C Andrews,Daniel F Eberl,Guney Bademci, Nicholas A Borja, Stephanie Bivona, Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models,Wendy K Chung,Shinya Yamamoto,Michael F Wangler,Shane McKee,Mustafa Tekin,Hugo J Bellen,Oguz Kanca
    AJHG（2025）
    Cited0Views4Bibtex
    0
    4
    C-terminal Frameshift Variants in GPKOW Are Associated with a Multisystemic X-linked Disorder
    Genetics in medicine official journal of the American College of Medical Geneticsno. 7 (2025): 101429-101429
    Cited0Views2Bibtex
    0
    2
    Uncovering Phenotypic Expansion in AXIN2-Related Disorders Using Precision Animal Modeling
    Nathalie M Aceves-Ewing,Denise G Lanza，Lindsay C Burrage,Jason D Heaney
    medRxiv the preprint server for health sciences (2025)
    Cited0Views1Bibtex
    0
    1
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    Author Statistics
    00.20.40.60.81#Papers#CitationH-IndexG-IndexSociabilityDiversityActivity

    #Papers: 158

    #Citation: 5050

    H-Index: 37

    G-Index: 69

    Sociability: 8

    Diversity: 3

    Activity: 47

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    • 合作者
    • 学生
    • 导师
    Hugo J Bellen合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine;Jan and Dan Duncan Neurological Research Institute, Texas Children Hospital65
    Shinya Yamamoto合作论文数
    63
    Jill Anne Mokry合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine37
    Oguz Kanca合作论文数
    Biozentrum, University of Basel28
    Carlos A Bacino合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine23
    Jennifer E Posey合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine21
    Lindsay C. Burrage合作论文数
    20
    James R Lupski合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine19
    Christine M. Eng合作论文数
    19
    Lalani Seema R合作论文数
    18
    Stanley F. Nelson合作论文数
    David Geffen School of Medicine, University of California, Los Angeles17
    Brendan Lee合作论文数
    Baylor College of Medicine17
    Daryl A. Scott合作论文数
    17
    Sharayu Jangam合作论文数
    Dept Mol & Human Genet, Baylor Coll Med BCM16
    Yang Yaping合作论文数
    16
    Nicholas Stong合作论文数
    School of Medicine, University of Pennsylvania;The Wistar Institute16
    David Sweetser合作论文数
    Howard Hughes Medical Institute, University of Washington16
    Vandana Shashi合作论文数
    Department of Pediatrics, Duke University School of Medicine15
    Hsiao-Tuan Chao合作论文数
    Department of Neuroscience, Baylor College of Medicine15
    Lorraine Potocki合作论文数
    15
    Lauren C. Briere合作论文数
    14
    Pengfei Liu合作论文数
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA14
    Tifft Cynthia J合作论文数
    14
    Fan Xia合作论文数
    Baylor College of Medicine;Baylor Genetics14
    Kelly Schoch合作论文数
    14
    Donna Muzny合作论文数
    Clinical Laboratory, Human Genome Sequencing Center,Baylor College of Medicine;Department of Molecular and Human Genetics, Baylor College of Medicine14
    May Christine Malicdan合作论文数
    Undiagnosed Diseases Program Translational Laboratory, National Human Genome Research Institute14
    Monte Westerfield合作论文数
    Institute of Neuroscience, University of Oregon;College of Arts and Sciences, University of Oregon14
    David Murdock合作论文数
    Department of Bioengineering, Rice University14
    Jonathan A Bernstein合作论文数
    13
    Worthey Elizabeth A合作论文数
    13
    Emrick Lisa T合作论文数
    13
    John Postlethwait合作论文数
    Institute of Neuroscience, University of Oregon;Department of Biology, College of Arts and Sciences, University of Oregon13
    Melissa a Walker合作论文数
    Department of Pediatric Neurology, Massachusetts General Hospital13
    Rodan Lance H合作论文数
    13
    Rizwan Hamid合作论文数
    13
    Macnamara Ellen合作论文数
    13
    William A. Gahl合作论文数
    Human Biochemical Genetics Section, National Human Genome Research Institute13
    David M. Koeller合作论文数
    13
    Frances A. High合作论文数
    Cardiovascular Institute, University of Pennsylvania School of Medicine13
    Euan A. Ashley合作论文数
    Department of Biomedical Data Science, School of Medicine, Stanford University13
    Neil A. Hanchard合作论文数
    13
    Anastasia L Wise合作论文数
    12
    Cecilia Esteves合作论文数
    12
    Jonathan C Andrews合作论文数
    Dept Mol & Human Genet, Baylor Coll Med BCM12
    Allyn McConkie-Rosell合作论文数
    Department of Pediatrics, Duke University School of Medicine12
    Shweta Dhar合作论文数
    12
    David Adams合作论文数
    12
    Krier Joel B合作论文数
    12
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