Publications
Clinical isolates of Enterococcus faecium exhibit strain-specific collagen binding mediated by Acm, a new member of the MSCRAMM family. Mol Microbiol. 2003 ;47(6):1733-47.
. Clinical genomics: from a truly personal genome viewpoint. Hum Genet. 2016 ;135(6):591-601.
. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 ;10(1):74.
. Clinical characterization of individuals with the distal 1q21.1 microdeletion. Am J Med Genet A. 2021 ;185(5):1388-1398.
. The clinical applications of The Cancer Genome Atlas project for bladder cancer. Expert Rev Anticancer Ther. 2018 ;18(10):973-980.
. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 ;69(11):e29859.
. Clinical and molecular characterization of patients with YWHAG-related epilepsy. Epilepsia. 2024 ;65(5):1439-1450.
. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders. Brain. 2023 ;146(8):3273-3288.
. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders. Genet Med. 2024 ;:101251.
. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta. Genet Med. 2023 ;25(8):100856.
. Clan genomics: From OMIM phenotypic traits to genes and biology. Am J Med Genet A. 2021 ;185(11):3294-3313.
. Clan genomics and the complex architecture of human disease. Cell. 2011 ;147(1):32-43.
. Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023 ;40(8):719-738.
. Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol. 2021 ;39(3):309-312.
. Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices. Nat Commun. 2021 ;12(1):2182.
. Chromosome rearrangement and diversification of Francisella tularensis revealed by the type B (OSU18) genome sequence. J Bacteriol. 2006 ;188(19):6977-85.
. Chromosomal-Level Assembly of the Asian Seabass Genome Using Long Sequence Reads and Multi-layered Scaffolding. PLoS Genet. 2016 ;12(4):e1005954.
. Chromoanagenesis Event Underlies a Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome. Front Genet. 2021 ;12:708348.
. Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus. Genome Med. 2024 ;16(1):112.
. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 ;27(10):908-915.
. Chimeric RNAs reveal putative neoantigen peptides for developing tumor vaccines for breast cancer. Front Immunol. 2023 ;14:1188831.
. Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 ;450(7171):893-8.
. Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers. Genet Med. 2018 ;20(8):855-866.
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