Publications
Accurate profiling of forensic autosomal STRs using the Oxford Nanopore Technologies MinION device. Forensic Sci Int Genet. 2022 ;56:102629.
. Acquired uniparental disomy of chromosome 9p in hematologic malignancies. Exp Hematol. 2016 ;44(8):644-52.
. Acquisition of uncharacterized sequences from Candidatus liberibacter, an unculturable bacterium, using an improved genomic walking method. Mol Cell Probes. 2008 ;22(1):30-7.
. Activating MAPK1 (ERK2) mutation in an aggressive case of disseminated juvenile xanthogranuloma. Oncotarget. 2017 ;8(28):46065-46070.
. Activating p53 family member TAp63: A novel therapeutic strategy for targeting p53-altered tumors. Cancer. 2019 ;125(14):2409-2422.
. Activation of multiple proto-oncogenic tyrosine kinases in breast cancer via loss of the PTPN12 phosphatase. Cell. 2011 ;144(5):703-18.
. Adaptor-based uracil DNA glycosylase cloning simplifies shotgun library construction for large-scale sequencing. Anal Biochem. 1994 ;218(2):300-8.
. ADAR2 induces reproducible changes in sequence and abundance of mature microRNAs in the mouse brain. Nucleic Acids Res. 2014 ;42(19):12155-68.
. ADD1 460W allele associated with cardiovascular disease in hypertensive individuals. Hypertension. 2002 ;39(6):1053-7.
. Adding resolution and dimensionality to comparative genomics: moving from reference genomes to clade genomics. Genome Biol. 2018 ;19(1):115.
. Additive genetic variation in the craniofacial skeleton of baboons (genus Papio) and its relationship to body and cranial size. Am J Phys Anthropol. 2018 ;165(2):269-285.
. Adenosine deaminases that act on RNA induce reproducible changes in abundance and sequence of embryonic miRNAs. Genome Res. 2012 ;22(8):1468-76.
. ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa. Hum Mutat. 2016 ;37(3):246-9.
. Adult presentation of X-linked Conradi-Hünermann-Happle syndrome. Am J Med Genet A. 2015 ;167(6):1309-14.
. Advanced methylome analysis after bisulfite deep sequencing: an example in Arabidopsis. PLoS One. 2012 ;7(7):e41528.
. Advanced Retinal Imaging and Ocular Parameters of the Rhesus Macaque Eye. Transl Vis Sci Technol. 2021 ;10(6):7.
. Advances in genome biology and technology. Expert Rev Mol Diagn. 2004 ;4(6):757-60.
. Advances in translational bioinformatics facilitate revealing the landscape of complex disease mechanisms. BMC Bioinformatics. 2014 ;15 Suppl 17(Suppl 17):I1.
. Adverse outcomes in clear cell renal cell carcinoma with mutations of 3p21 epigenetic regulators BAP1 and SETD2: a report by MSKCC and the KIRC TCGA research network. Clin Cancer Res. 2013 ;19(12):3259-67.
. Age-related changes in the rhesus macaque eye. Exp Eye Res. 2021 ;212:108754.
. . Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome. Endocrine. 2016 ;51(2):236-44.
. Ago HITS-CLIP expands understanding of Kaposi's sarcoma-associated herpesvirus miRNA function in primary effusion lymphomas. PLoS Pathog. 2012 ;8(8):e1002884.
. AI-MARRVEL - A Knowledge-Driven AI System for Diagnosing Mendelian Disorders. NEJM AI. 2024 ;1(5).
. Allele-specific epigenome maps reveal sequence-dependent stochastic switching at regulatory loci. Science. 2018 ;361(6409).
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