Keck School Faculty

Avinash Dharmadhikari

Avinash Dharmadhikari

Assistant Professor of Clinical Pathology
Medicine
4640 West Sunset Blvd Off Campus Los Angeles

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels Genet Med. 2022 May 25. . 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

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