NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesNicole J. Van Bergen, Håkon Håkonarson, Carolyn Ellaway et al.|Brain|2018Cited by 71
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from IndiaShruti Pande, Anju Shukla, Purvi Majethia et al.|European Journal of Human Genetics|2023Cited by 18
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
Author response for "Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications"Purvi Majethia, Anju Shukla, Namanpreet Kaur et al.|Unknown|2024Cited by 0