Publications
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EPIMUTESTR: a nearest neighbor machine learning approach to predict cancer driver genes from the evolutionary action of coding variants. Nucleic Acids Res. 2022 ;50(12):e70.
. Recurrent BCAM-AKT2 fusion gene leads to a constitutively activated AKT2 fusion kinase in high-grade serous ovarian carcinoma. Proc Natl Acad Sci U S A. 2015 ;112(11):E1272-7.
. Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis. Blood. 2016 ;128(21):2533-2537.
. Identification of novel fusion transcripts in meningioma. J Neurooncol. 2020 ;149(2):219-230.
. Transcriptional Reprogramming Differentiates Active from Inactive ESR1 Fusions in Endocrine Therapy-Refractory Metastatic Breast Cancer. Cancer Res. 2021 ;81(24):6259-6272.
. Target and Agent Prioritization for the Children's Oncology Group-National Cancer Institute Pediatric MATCH Trial. J Natl Cancer Inst. 2017 ;109(5).
. Biallelic variants in KIF14 cause intellectual disability with microcephaly. Eur J Hum Genet. 2018 ;26(3):330-339.
. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 ;511(7508):241-5.
. Accumulation of Molecular Aberrations Distinctive to Hepatocellular Carcinoma Progression. Cancer Res. 2020 ;80(18):3810-3819.
. BCOR-CCNB3 fusions are frequent in undifferentiated sarcomas of male children. Mod Pathol. 2015 ;28(4):575-86.
. Zebrafish dax1 is required for development of the interrenal organ, the adrenal cortex equivalent. Mol Endocrinol. 2006 ;20(11):2630-40.
. Polymerase chain reaction techniques. Curr Opin Biotechnol. 1991 ;2(1):69-75.
. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 ;13(4):957-61.
. The use of primers from highly conserved pol regions to identify uncharacterized retroviruses by the polymerase chain reaction. J Virol Methods. 1990 ;28(1):33-46.
. Fidelity of targeted recombination in human fibroblasts and murine embryonic stem cells. Proc Natl Acad Sci U S A. 1991 ;88(18):8067-71.
. Detection of single DNA base differences by competitive oligonucleotide priming. Nucleic Acids Res. 1989 ;17(7):2437-48.
. A "double adaptor" method for improved shotgun library construction. Anal Biochem. 1996 ;236(1):107-13.
. Sequencing technologies - the next generation. Nat Rev Genet. 2010 ;11(1):31-46.
. Alu-primed polymerase chain reaction for regional assignment of 110 yeast artificial chromosome clones from the human X chromosome: identification of clones associated with a disease locus. Proc Natl Acad Sci U S A. 1991 ;88(14):6157-61.
. PCR test for cystic fibrosis deletion. Nature. 1990 ;343(6255):220.
. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc Natl Acad Sci U S A. 1989 ;86(6):1919-23.
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A clone-array pooled shotgun strategy for sequencing large genomes. Genome Res. 2001 ;11(10):1619-23.
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