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Current Genomics|June 19, 2015
Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and DiseaseAvinash V Dharmadhikari, Przemyslaw Szafranski, Vladimir V Kalinichenko, et al.
Cold Spring Harbor Molecular Case Studies|January 13, 2022
Whole-exome sequencing detects PYGM variants in two adults with McArdle diseaseAmanda Thomas-Wilson, Avinash V Dharmadhikari, Jonas J Heymann, et al.
Leukemia & Lymphoma|December 1, 2012
CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populationsJawad Francis, Avinash V Dharmadhikari, Sheila N J Sait, et al.
Frontiers in Genetics|August 5, 2022
Case Report: Prenatal Identification of a De Novo Mosaic Neocentric Marker Resulting in 13q31.1→qter Tetrasomy in a Mildly Affected GirlAvinash V Dharmadhikari, Elaine M Pereira, Carli C Andrews, et al.
American Journal of Medical Genetics. Part A|May 21, 2014
Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veinsPrzemyslaw Szafranski, Avinash V Dharmadhikari, Jennifer A Wambach, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 9, 2025
Optical genome mapping improves clinical interpretation of constitutional copy number gains and reduces their VUS burdenAvinash V Dharmadhikari, Alexander L Markowitz, Jennifer Han, et al.
Biology Open|September 18, 2016
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpressionAvinash V Dharmadhikari, Jenny J Sun, Krzysztof Gogolewski, et al.
Orphanet Journal of Rare Diseases|November 14, 2020
Compound heterozygous inheritance of two novel COQ2 variants results in familial coenzyme Q deficiencyAliaa H Abdelhakim, Avinash V Dharmadhikari, Sara D Ragi, et al.
Plos One|April 12, 2014
Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout micePartha Sen, Avinash V Dharmadhikari, Tadeusz Majewski, et al.
NPJ Genomic Medicine|February 21, 2025
Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohortElan Hahn, Avinash V Dharmadhikari, Alexander L Markowitz, et al.
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