Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counsellingDhanya Lakshmi Narayanan, Anju Shukla, Purvi Majethia 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, Leslie Lewis et al.|European Journal of Human Genetics|2023Cited by 18
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyPurvi Majethia, Anju Shukla, Suvasini Sharma et al.|Annals of Human Genetics|2021Cited by 6
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian PopulationNamanpreet Kaur, Anju Shukla, Selinda Mascarenhas et al.|American Journal of Medical Genetics Part A|2024Cited by 2
Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literatureSelinda Mascarenhas, Anju Shukla, Karthik Vijay Nair et al.|Clinical Dysmorphology|2024Cited by 1