Publications
Reactivity of antibodies from syphilis patients to a protein array representing the Treponema pallidum proteome. J Clin Microbiol. 2006 ;44(3):888-91.
. Read2Tree: scalable and accurate phylogenetic trees from raw reads. bioRxiv. 2022 ;.
. ReadDepth: a parallel R package for detecting copy number alterations from short sequencing reads. PLoS One. 2011 ;6(1):e16327.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 ;35(8):646-9.
. Recognition of pore-forming colicin Y by its cognate immunity protein. FEMS Microbiol Lett. 2006 ;258(1):108-13.
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Recommended Guidelines for Validation, Quality Control, and Reporting of Variants in Clinical Practice. Cancer Res. 2017 ;77(6):1250-1260.
. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 ;41(3):641-654.
. 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.
. Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 ;7(6):e1002118.
. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 ;94(5):745-54.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. Am J Hum Genet. 2017 ;100(2):343-351.
. Recurrent DGCR8, DROSHA, and SIX homeodomain mutations in favorable histology Wilms tumors. Cancer Cell. 2015 ;27(2):286-97.
. Recurrent duplication-driven transposition of DNA during hominoid evolution. Proc Natl Acad Sci U S A. 2006 ;103(47):17626-31.
. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet. 2013 ;45(10):1226-1231.
. Recurrent internal tandem duplications of BCOR in clear cell sarcoma of the kidney. Nat Commun. 2015 ;6:8891.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. A recurrent single-exon deletion in TBCK might be under-recognized in patients with infantile hypotonia and psychomotor delay. Hum Mutat. 2022 ;43(12):1816-1823.
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REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis. Mol Genet Genomic Med. 2020 ;8(11):e1488.
. The Red-R Framework for Integrated Discovery. The Red-R Journal [Internet]. 2011 ;. https://r-orange.googlecode.com/files/RedRMain.pdf
. Reduced meiotic recombination in rhesus macaques and the origin of the human recombination landscape. PLoS One. 2020 ;15(8):e0236285.
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