Publications
Exon sequencing of PAX3 and T (brachyury) in cases with spina bifida. Birth Defects Res A Clin Mol Teratol. 2013 ;97(9):597-601.
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Absence of heterozygosity due to template switching during replicative rearrangements. Am J Hum Genet. 2015 ;96(4):555-64.
. The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia. 2014 ;28(4):938-41.
. Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 ;9(11):e1792.
. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. Acquired uniparental disomy of chromosome 9p in hematologic malignancies. Exp Hematol. 2016 ;44(8):644-52.
. The architecture of a distributed medical dictionary. Medinfo. 1995 ;8 Pt 1:126-30.
. Integrating the UMLS into VNS Retriever. Proc Annu Symp Comput Appl Med Care. 1992 ;:273-7.
. Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome. Am J Hum Genet. 2018 ;102(6):1126-1142.
. Diabetes genes and prostate cancer in the Atherosclerosis Risk in Communities study. Cancer Epidemiol Biomarkers Prev. 2010 ;19(2):558-65.
. Deletion screening at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells using the polymerase chain reaction. Teratog Carcinog Mutagen. 1989 ;9(3):177-87.
. The Escherichia coli UVM response is accompanied by an SOS-independent error-prone DNA replication activity demonstrable in vitro. Mol Microbiol. 2000 ;38(2):368-80.
. Termination of DNA synthesis by N6-alkylated, not 3'-O-alkylated, photocleavable 2'-deoxyadenosine triphosphates. Nucleic Acids Res. 2007 ;35(19):6339-49.
. Paradoxical DNA repair and peroxide resistance gene conservation in Bacillus pumilus SAFR-032. PLoS One. 2007 ;2(9):e928.
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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74.
. Are extended biopsies really necessary to improve prostate cancer detection?. Prostate Cancer Prostatic Dis. 2003 ;6(3):250-5.
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Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination. Am J Hum Genet. 2016 ;99(2):470-80.
. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 ;62(4):465-471.
. Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. J Inherit Metab Dis. 2015 ;38(5):905-14.
. Exome sequencing of head and neck squamous cell carcinoma reveals inactivating mutations in NOTCH1. Science. 2011 ;333(6046):1154-7.
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