Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counsellingDhanya Lakshmi Narayanan, Anju Shukla, Divya Udyawar et al.|European Journal of Human Genetics|2021Cited by 43
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from IndiaShruti Pande, Anju Shukla, Neethukrishna Kausthubham et al.|European Journal of Human Genetics|2023Cited by 18
Expanding the electro-clinical phenotype of CARS2associated neuroregressionDipti Kapoor, Suvasini Sharma, Purvi Majethia et al.|Epilepsy & Behavior Reports|2021Cited by 8
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implicationsPurvi Majethia, Anju Shukla, Namanpreet Kaur et al.|Clinical Genetics|2024Cited by 7
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyPurvi Majethia, Anju Shukla, Michelle C. do Rosario et al.|Annals of Human Genetics|2021Cited by 6