Anupriya Kaur

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri et al. · BMC Medical Genetics · 2019 · 60 citations · Full text

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 36 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +7

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki et al. · Journal of Medical Genetics · 2021 · 35 citations · Full text

Long-term epilepsy control, motor function, cognition, sleep and quality of life in children with West syndrome

Bhanudeep Singanamalla, Priyanka Madaan, Naveen Sankhyan et al. · Epilepsy Research · 2021 · 31 citations

Down Syndrome, Sleep Disorders, Sleep +15

Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India

Balamurugan Nagarajan, Vykuntaraju K. Gowda, Sangeetha Yoganathan et al. · Epilepsia Open · 2023 · 29 citations · Full text