Avinash V. Dharmadhikari
Children's Hospital of Los Angeles(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, RNA modifications and cancer, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Chromosome Catastrophes Involve Replication Mechanisms Generating Complex Genomic Rearrangements(2011)459 cited
- → Use of Exome Sequencing for Infants in Intensive Care Units(2017)427 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder(2018)160 cited
- → Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder(2012)159 cited
- → Causal Genetic Variants in Stillbirth(2020)130 cited
- → NovelFOXF1Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain(2013)123 cited
- → Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins(2014)101 cited
- → Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies(2018)87 cited
- → Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases(2019)69 cited