Namanpreet Kaur
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View article: Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish Open
Mitochondrial ribosomal protein-small 2 ( MRPS2 ) encodes a vital structural protein essential for assembling mitoribosomal small subunit and thus mitochondrial translation. Any defect in mitochondrial translation impacts OXPHOS activity a…
View article: Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
View article: Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population
Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population Open
Several genetic disorders are associated with either a permanent deficit or a delay in central nervous system myelination. We investigated 24 unrelated families (25 individuals) with deficient myelination after clinical and radiological ev…
View article: Biallelic variants in<i>MRPL49</i>cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
Biallelic variants in<i>MRPL49</i>cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency Open
Combined oxidative phosphorylation deficiency (COXPD) is a rare multisystem disorder which is clinically and genetically heterogeneous. Genome sequencing identified biallelic MRPL49 variants in individuals from five unrelated families with…
View article: Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications
Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications Open
The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic c…
View article: De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India Open