Publications
Genetic sex validation for sample tracking in next-generation sequencing clinical testing. BMC Res Notes. 2024 ;17(1):62.
. Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance. Virus Evol. 2024 ;10(1):vead086.
. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. Am J Med Genet A. 2023 ;191(3):794-804.
. Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study. Pediatr Hematol Oncol. 2023 ;40(8):719-738.
. Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child-parent trios and a case-control design to identify novel rare variants. Am J Med Genet A. 2023 ;191(6):1546-1556.
. Genetic Sex Validation for Sample Tracking in Clinical Testing. Res Sq. 2023 ;.
. The genomic landscape of familial glioma. Sci Adv. 2023 ;9(17):eade2675.
. HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic Acids Res. 2023 ;.
. Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv. 2023 ;.
. Identification of USP9X as a leukemia susceptibility gene. Blood Adv. 2023 ;7(16):4563-4575.
. . . Author Correction: Comparative and demographic analysis of orang-utan genomes. Nature. 2022 ;608(7924):E36.
. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 ;69(11):e29859.
. Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus. Gigascience. 2022 ;11.
. Distinct somatic DICER1 hotspot mutations in three metachronous ovarian Sertoli-Leydig cell tumors in a patient with DICER1 syndrome. Cancer Genet. 2022 ;262-263:53-56.
. Fully resolved assembly of Cryptosporidium parvum. Gigascience. 2022 ;11.
. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
. Genome Sequencing in the Parkinson Disease Clinic. Neurol Genet. 2022 ;8(4):e200002.
. Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. Genet Med. 2022 ;24(5):1062-1072.
. Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 ;43(12):2033-2053.
. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation. Genome Med. 2022 ;14(1):122.
. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 ;3(1):100074.
. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 ;43(7):900-918.
. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program. Am J Hum Genet. 2022 ;109(5):857-870.
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