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List of works by Avinash V Dharmadhikari

CD19 expression in acute leukemia is not restricted to the cytogenetically aberrant populations.

scientific article

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

scientific article

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder

scientific article published on 28 September 2018

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice

scientific article

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

scientific article published on 17 May 2019

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease.

scientific article published on April 2015

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

scientific article published on 16 September 2016

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

scientific article

Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain.

scientific article published on 12 April 2013

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

scientific article published on 2 November 2011

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

scientific article published on 9 April 2018

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.

scientific article published on 19 May 2014

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

scientific article

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