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Clinical Genetics|October 13, 2020
Genetic disorders with central nervous system white matter abnormalities: An updateAnju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, et al.
Annals of Human Genetics|December 8, 2021
Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophyPurvi Majethia, Michelle C Do Rosario, Parneet Kaur, et al.
American Journal of Medical Genetics. Part A|January 5, 2024
c.202_204del in NUP214 causes late onset form of febrile encephalopathySheeba Farooqui, Dhanya Lakshmi Narayanan, Selinda Mascarenhas, et al.
Journal of Human Genetics|October 5, 2022
Further delineation of KIF21B-related neurodevelopmental disordersDhanya Lakshmi Narayanan, José Rivera Alvarez, Peggy Tilly, et al.
Clinical Dysmorphology|August 14, 2024
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, Mayuri Yeole, Lakshmi Priya Rao, et al.
European Journal of Human Genetics : EJHG|July 19, 2021
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counsellingDhanya Lakshmi Narayanan, Divya Udyawar, Parneet Kaur, et al.
Brain : a Journal of Neurology|August 11, 2022
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophyMichelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, et al.
American Journal of Medical Genetics. Part A|October 29, 2024
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian PopulationNamanpreet Kaur, Michelle C do Rosario, Purvi Majethia, et al.
Clinical Genetics|July 24, 2021
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalitiesParneet Kaur, Michelle C do Rosario, Malavika Hebbar, et al.
European Journal of Human Genetics : EJHG|December 19, 2023
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from IndiaShruti Pande, Purvi Majethia, Karthik Nair, et al.
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