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Avinash Dharmadhikari, PhD

Assistant Professor of Clinical Pathology

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Email adharmad@usc.edu
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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
  • Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 05 03; 102(5):985-994.. View in PubMed
  • Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.. View in PubMed
  • Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. Biol Open. 2016 Nov 15; 5(11):1595-1606.. View in PubMed
  • Inhaled drug treatment for tuberculosis: Past progress and future prospects. J Control Release. 2016 10 28; 240:127-134.. View in PubMed
  • Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586.. View in PubMed
  • Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. Curr Genomics. 2015 Apr; 16(2):107-16.. View in PubMed
  • Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128.. View in PubMed
  • Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2014 Aug; 164A(8):2013-9.. View in PubMed
  • Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390.. View in PubMed
  • CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populations. Leuk Lymphoma. 2013 Jul; 54(7):1517-20.. View in PubMed
  • Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat. 2013 Jun; 34(6):801-11.. View in PubMed
  • Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33.. View in PubMed
  • Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.. View in PubMed
  • Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Hum Mutat. 2012 Jan; 33(1):165-79.. View in PubMed
  • Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements. Cell. 2011 Sep 16; 146(6):889-903.. View in PubMed

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