Ajith V. Kumar

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 38 publications

Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.

Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.

Journal: The lancet. Gastroenterology & hepatology

Published: December 16, 2025

Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations.

Specific considerations for MUTYH carrier testing in individuals of Gujarati heritage: UK cancer genetics group recommendations.

Journal: Journal of medical genetics

Published: September 15, 2025

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.

Journal: European journal of endocrinology

Published: September 18, 2024

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.

Journal: BJOG : an international journal of obstetrics and gynaecology

Published: April 29, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.

Journal: Nature communications

Published: October 31, 2022

Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.

Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.

Journal: Journal of the National Comprehensive Cancer Network : JNCCN

Published: September 30, 2022

Expanding the phenotype of TAB2 variants and literature review.

Expanding the phenotype of TAB2 variants and literature review.

Journal: American journal of medical genetics. Part A

Published: January 30, 2022

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Implementation of Multigene Germline and Parallel Somatic Genetic Testing in Epithelial Ovarian Cancer: SIGNPOST Study.

Journal: Cancers

Published: July 08, 2021

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect.

Journal: Brain : a journal of neurology

Published: September 25, 2019

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.

Journal: Genome medicine

Published: March 15, 2019

Showing 1-12 of 38

Last Updated: 09/26/2026