Saumya Kumar

Didcot, ENG OX110RD, United Kingdom

Last Updated: 09/26/2026

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Found 9 publications

Pleiotropic brain function of whirlin identified by a novel mutation.

Pleiotropic brain function of whirlin identified by a novel mutation.

Journal: iScience

Published: March 11, 2024

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.

A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.

Journal: Human molecular genetics

Published: January 14, 2018

Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants.

Application of long single-stranded DNA donors in genome editing: generation and validation of mouse mutants.

Journal: BMC biology

Published: November 27, 2017

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.

An N-Ethyl-N-Nitrosourea (ENU) Mutagenized Mouse Model for Autosomal Dominant Nonsyndromic Kyphoscoliosis Due to Vertebral Fusion.

Journal: JBMR plus

Published: October 29, 2017

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

Journal: Nature communications

Published: February 29, 2016

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.

Journal: Genome medicine

Published: September 16, 2015

Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.

Current strategies for mutation detection in phenotype-driven screens utilising next generation sequencing.

Journal: Mammalian genome : official journal of the International Mammalian Genome Society

Published: June 09, 2015

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

A novel SOD1-ALS mutation separates central and peripheral effects of mutant SOD1 toxicity.

Journal: Human molecular genetics

Published: December 04, 2014

Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection.

Genetic factors regulating lung vasculature and immune cell functions associate with resistance to pneumococcal infection.

Journal: PloS one

Published: August 18, 2013

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Last Updated: 09/26/2026