Parneet Kaur

Manipala, KA 576104, India

Last Updated: 09/26/2026

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Found 19 publications

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects.

Journal: Brain : a journal of neurology

Published: March 14, 2024

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination.

Journal: Clinical dysmorphology

Published: April 21, 2022

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.

Journal: Brain : a journal of neurology

Published: October 15, 2021

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.

Journal: Human genetics

Published: September 30, 2021

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.

Journal: Annals of human genetics

Published: July 20, 2021

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Journal: Journal of human genetics

Published: May 22, 2021

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.

Journal: Clinical genetics

Published: April 07, 2021

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Journal: American journal of human genetics

Published: December 20, 2020

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.

Journal: European journal of human genetics : EJHG

Published: November 24, 2020

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia.

Journal: Clinical genetics

Published: October 24, 2020

Genetic disorders with central nervous system white matter abnormalities: An update.

Genetic disorders with central nervous system white matter abnormalities: An update.

Journal: Clinical genetics

Published: July 17, 2020

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement.

Journal: Brain : a journal of neurology

Published: March 04, 2020

Showing 1-12 of 19

Last Updated: 09/26/2026