Kumari R - Search Results

1

Cribriform Appearance of White Matter in Canavan Disease Associated with Novel Mutations of ASPA Gene.

Bhat MD, Manjunath N, Kumari R, Faruq M, Pal PK, Prasad C, Mundlamuri RC, Nalini A, Udupi GA, Baishya PP, Kulanthaivelu K. Bhat MD, et al. Among authors: kumari r. J Pediatr Genet. 2021 Mar 10;11(4):267-271. doi: 10.1055/s-0041-1725118. eCollection 2022 Dec. J Pediatr Genet. 2021. PMID: 36267868 Free PMC article.

2

Whole exome sequencing in an Indian family links Coats plus syndrome and dextrocardia with a homozygous novel CTC1 and a rare HES7 variation.

Netravathi M, Kumari R, Kapoor S, Dakle P, Dwivedi MK, Roy SD, Pandey P, Saini J, Ramakrishna A, Navalli D, Satishchandra P, Pal PK, Kumar A, Faruq M. Netravathi M, et al. Among authors: kumari r. BMC Med Genet. 2015 Feb 10;16:5. doi: 10.1186/s12881-015-0151-8. BMC Med Genet. 2015. PMID: 25928698 Free PMC article.

3

Paradigm for disease deconvolution in rare neurodegenerative disorders in Indian population: insights from studies in cerebellar ataxias.

Kumari R, Kumar D, Brahmachari SK, Srivastava AK, Faruq M, Mukerji M. Kumari R, et al. J Genet. 2018 Jul;97(3):589-609. J Genet. 2018. PMID: 30027898 Free article.

4

Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families.

Faruq M, Narang A, Kumari R, Pandey R, Garg A, Behari M, Dash D, Srivastava AK, Mukerji M. Faruq M, et al. Among authors: kumari r. Clin Genet. 2014 Oct;86(4):335-41. doi: 10.1111/cge.12279. Epub 2013 Oct 13. Clin Genet. 2014. PMID: 24102492

5

Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia.

Shakya S, Kumari R, Suroliya V, Tyagi N, Joshi A, Garg A, Singh I, Kalikavil Puthanveedu D, Cherian A, Mukerji M, Srivastava AK, Faruq M. Shakya S, et al. Among authors: kumari r. Clin Genet. 2019 Dec;96(6):566-574. doi: 10.1111/cge.13625. Epub 2019 Sep 1. Clin Genet. 2019. PMID: 31429931

6

Exome sequencing reveals a novel mutation, p.L325H, in the KRT5 gene associated with autosomal dominant Epidermolysis Bullosa Simplex Koebner type in a large family from western India.

Vellarikkal SK, Patowary A, Singh M, Kumari R, Faruq M, Master DC, Sivasubbu S, Scaria V. Vellarikkal SK, et al. Among authors: kumari r. Hum Genome Var. 2014 Sep 4;1:14007. doi: 10.1038/hgv.2014.7. eCollection 2014. Hum Genome Var. 2014. PMID: 27081501 Free PMC article.

7

Does retinoic acid reverse cell cycle dysregulation in Alzheimer's disease lymphocytes?

Ashok A, Naaz S, Kota LN, Sen S, Purushottam M, Faruq M, Kumari R, Yadav V, Kannan R, Jain S, Panicker MM, Viswanath B. Ashok A, et al. Among authors: kumari r. Asian J Psychiatr. 2019 Jan;39:174-177. doi: 10.1016/j.ajp.2018.08.010. Epub 2018 Aug 16. Asian J Psychiatr. 2019. PMID: 30139662

8

Ancestral Variations of the PCDHG Gene Cluster Predispose to Dyslexia in a Multiplex Family.

Naskar T, Faruq M, Banerjee P, Khan M, Midha R, Kumari R, Devasenapathy S, Prajapati B, Sengupta S, Jain D, Mukerji M, Singh NC, Sinha S. Naskar T, et al. Among authors: kumari r. EBioMedicine. 2018 Feb;28:168-179. doi: 10.1016/j.ebiom.2017.12.031. Epub 2018 Jan 9. EBioMedicine. 2018. PMID: 29409727 Free PMC article.

9

Cytosine hypomethylation at CHG and CHH sites in the pleiotropic mutants of Mendelian inheritance in Catharanthus roseus.

Kumari R, Yadav G, Sharma V, Sharma V, Kumar S. Kumari R, et al. J Genet. 2013 Dec;92(3):499-511. doi: 10.1007/s12041-013-0300-9. J Genet. 2013. PMID: 24371171 Free article.

10

Genetic interaction and mapping studies on the leaflet development (lld) mutant in Pisum sativum.

Kumar S, Mishra RK, Kumar A, Chaudhary S, Sharma V, Kumari R. Kumar S, et al. Among authors: kumari r. J Genet. 2012;91(3):325-42. doi: 10.1007/s12041-012-0197-8. J Genet. 2012. PMID: 23271018 Free article.

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