Kaur P - Search Results

1

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

Somashekar PH, Kaur P, Stephen J, Guleria VS, Kadavigere R, Girisha KM, Bielas S, Upadhyai P, Shukla A. Somashekar PH, et al. Among authors: kaur p. Clin Genet. 2021 Apr;99(4):594-600. doi: 10.1111/cge.13928. Epub 2021 Jan 28. Clin Genet. 2021. PMID: 33463720 Free PMC article. Review.

2

Report of the Third Family with Multiple Mitochondrial Dysfunctions Syndrome 5 Caused by the Founder Variant p.(Glu87Lys) in ISCA1.

Shukla A, Kaur P, Girisha KM. Shukla A, et al. Among authors: kaur p. J Pediatr Genet. 2018 Sep;7(3):130-133. doi: 10.1055/s-0038-1641177. Epub 2018 Apr 5. J Pediatr Genet. 2018. PMID: 30105122 Free PMC article.

3

Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.

Kaur P, Neethukrishna K, Kumble A, Girisha KM, Shukla A. Kaur P, et al. Am J Med Genet A. 2019 May;179(5):857-861. doi: 10.1002/ajmg.a.61103. Epub 2019 Feb 28. Am J Med Genet A. 2019. PMID: 30816001

4

GATAD2B-related intellectual disability due to parental mosaicism and review of literature.

Kaur P, Mishra S, Rajesh SM, Girisha KM, Shukla A. Kaur P, et al. Clin Dysmorphol. 2019 Oct;28(4):190-194. doi: 10.1097/MCD.0000000000000288. Clin Dysmorphol. 2019. PMID: 31205050 Review.

5

Confirmation of a Rare Genetic Leukoencephalopathy due to a Novel Bi-allelic Variant in RPIA.

Kaur P, Wamelink MMC, van der Knaap MS, Girisha KM, Shukla A. Kaur P, et al. Eur J Med Genet. 2019 Aug;62(8):103708. doi: 10.1016/j.ejmg.2019.103708. Epub 2019 Jun 25. Eur J Med Genet. 2019. PMID: 31247379

6

Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.

Kaur P, Bhavani GS, Raj A, Girisha KM, Shukla A. Kaur P, et al. J Hum Genet. 2019 Dec;64(12):1237-1242. doi: 10.1038/s10038-019-0678-1. Epub 2019 Oct 8. J Hum Genet. 2019. PMID: 31591492

7

Spastic Paraplegia Type 56 in a Young Child.

Samaddar S, Kaur P, Rajagopal KV, Girisha KM, Shukla A, Sharma S. Samaddar S, et al. Among authors: kaur p. Indian J Pediatr. 2020 Aug;87(8):650-651. doi: 10.1007/s12098-020-03195-1. Epub 2020 Feb 8. Indian J Pediatr. 2020. PMID: 32036589 No abstract available.

8

Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

Kaur P, Sharma S, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Ann Hum Genet. 2020 Jul;84(4):345-351. doi: 10.1111/ahg.12377. Epub 2020 Mar 2. Ann Hum Genet. 2020. PMID: 32124427 Review.

9

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

Kaur P, Kadavigere R, Girisha KM, Shukla A. Kaur P, et al. Brain. 2020 Apr 1;143(4):e29. doi: 10.1093/brain/awaa046. Brain. 2020. PMID: 32125366 No abstract available.

10

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

Shukla A, Kaur P, Narayanan DL, do Rosario MC, Kadavigere R, Girisha KM. Shukla A, et al. Among authors: kaur p. Clin Genet. 2021 Jan;99(1):119-132. doi: 10.1111/cge.13863. Epub 2020 Oct 20. Clin Genet. 2021. PMID: 33047326 Free PMC article. Review.

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