Keck School Faculty

A Primer on Gene Editing: What Does It Mean for Pathologists? Arch Pathol Lab Med. 2023 Aug 23.. View in PubMed

A Primer on Gene Editing Arch Pathol Lab Med. 2023 Aug 22. . View in PubMed

Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors J Mol Diagn. 2023 Jul; 25(7):411-427. . View in PubMed

Genome Analysis Using Whole-Exome Sequencing of Non-Syndromic Cleft Lip and/or Palate from Malagasy Trios Identifies Variants Associated with Cilium-Related Pathways and Asian Genetic Ancestry Genes (Basel). 2023 03 07; 14(3). . View in PubMed

PLAG1 Immunohistochemical Staining Is a Surrogate Marker for PLAG1 Fusions in Lipoblastomas Pediatr Dev Pathol. 2022 Mar-Apr; 25(2):134-140. . View in PubMed

High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects Am J Med Genet A. 2022 07; 188(7):2082-2095. . View in PubMed

m3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome. Cold Spring Harb Mol Case Stud. 2022 02; 8(2). . View in PubMed

Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping Blood Adv. 2022 06 14; 6(11):3343-3346. . View in PubMed

Contamination Assessment for Cancer Next-Generation Sequencing Arch Pathol Lab Med. 2022 01 02; 146(2):227-232. . View in PubMed

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome J Mol Med (Berl). 2021 11; 99(11):1623-1638. . View in PubMed

A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies Cancer Genet. 2021 06; 254-255:25-33. . View in PubMed

Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults Neurooncol Adv. 2021 Jan-Dec; 3(1):vdab037. . View in PubMed

Precision Medicine Exits the Hype Cycle and Enters into Productive Clinical Use Clin Lab Med. 2020 06; 40(2):ix-x. . View in PubMed

Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy J Vitreoretin Dis. 2020 Jan-Feb; 4(1):69-74. . View in PubMed

Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk Genet Med. 2019 12; 21(12):2765-2773. . View in PubMed

VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling J Mol Diagn. 2019 05; 21(3):384-389. . View in PubMed

Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing Genet Med. 2016 12; 18(12):1282-1289. . View in PubMed