Avinash Dharmadhikari, PhD

Assistant Professor of Clinical Pathology

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Publications

  • 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
  • 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
  • Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder Genome Med. 2018 09 28; 10(1):74. . 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
  • Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins Hum Genet. 2016 May; 135(5):569-586. . 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
  • Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q241: Implications for Development and Disease. Curr Genomics. 2015 Apr; 16(2):107-16. . View in PubMed
  • Molecular and clinical analyses of 16q241 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 2q211, 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 10q1121q11. 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