Chaitanya Datar
Bharat Forge (India)(IN)Bharati Vidyapeeth Deemed University(IN)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Cellular transport and secretion, Trypanosoma species research and implications
Most-Cited Works
- → Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU(2017)118 cited
- → Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly(2019)82 cited
- → Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation(2019)65 cited
- → Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility(2013)60 cited
- → Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy(2019)33 cited
- → GM2 gangliosidosis AB variant: novel mutation from India – a case report with a review(2016)31 cited
- → Recurrent and novel GLB1 mutations in India(2015)25 cited
- → Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre(2024)19 cited
- → Lysosomal storage disorders in Indian children with neuroregression attending a genetic center(2015)15 cited
- → Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II(2022)15 cited