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Avinash Dharmadhikari, PhD

Assistant Professor of Clinical Pathology

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Email [email protected]
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Publications

  • Optical genome mapping improves clinical interpretation of constitutional copy-number gains and reduces their VUS burden. Genet Med. 2025 Aug; 27(8):101452.. View in PubMed
  • Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort. NPJ Genom Med. 2025 Feb 21; 10(1):16.. View in PubMed
  • RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS. Nat Commun. 2025 Feb 17; 16(1):1703.. View in PubMed
  • Molecular Genetic Testing Approaches for Retinitis Pigmentosa. Methods Mol Biol. 2023; 2560:41-66.. View in PubMed
  • Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels. Genet Med. 2022 09; 24(9):1899-1908.. View in PubMed
  • Whole-exome sequencing detects PYGM variants in two adults with McArdle disease. Cold Spring Harb Mol Case Stud. 2022 02; 8(2).. View in PubMed
  • Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiency. Orphanet J Rare Dis. 2020 11 13; 15(1):320.. View in PubMed
  • Causal Genetic Variants in Stillbirth. N Engl J Med. 2020 09 17; 383(12):1107-1116.. View in PubMed
  • Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 05 17; 11(1):30.. View in PubMed
  • Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 09 28; 10(1):74.. View in PubMed

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