Parneet Kaur, Ph.D.
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Parneet Kaur, Ph.D.
Postdoctoral Associate
Positions
- Postdoctoral Associate
-
Molecular & Human Genetics - Lupski Lab
Baylor College of Medicine
Selected Publications
- "Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly." 2022 Jun;
- "Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy." 2021 Dec;
- "Homozygous variant p.(Arg163Trp) in PIGH causes glycosylphosphatidylinositol biosynthesis defect with epileptic encephalopathy and delayed myelination." 2022 Oct;
- "Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene." ;
- "C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures." ;
- "Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling." ;
- "Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities." ;
- "Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism." ;
- "Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia." ;
- "Genetic disorders with central nervous system white matter abnormalities: An update." ;
- "Spastic Paraplegia Type 56 in a Young Child." ;
- "Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature." ;
- "Recurrent bi-allelic splicing variant c.454+3A>G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement." ;
- "ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome." ;
- "Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders." ;
- "GATAD2B-related intellectual disability due to parental mosaicism and review of literature." ;
- "Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA." ;
- "Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene." ;
- "Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1." ;
Skills
- Gene discovery
- Mechanisms of structural variation
Languages
Punjabi, Hindi
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