Rutendo P. Mapeta

Cambridge, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.

Journal: Brain communications

Published: August 15, 2022

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.

Journal: American journal of respiratory and critical care medicine

Published: July 19, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.

Journal: Pediatric nephrology (Berlin, Germany)

Published: April 28, 2021

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.

Journal: Blood

Published: February 10, 2020

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Journal: Human mutation

Published: April 19, 2019

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.

Curated disease-causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH.

Journal: Journal of thrombosis and haemostasis : JTH

Published: March 02, 2019

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Journal: Neurology

Published: January 10, 2019

Whole-genome sequencing of patients with rare diseases in a national health system.

Whole-genome sequencing of patients with rare diseases in a national health system.

Journal: Nature

Published: December 23, 2018

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

Journal: Blood

Published: December 11, 2018

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

Journal: Blood

Published: September 02, 2018

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

Journal: American journal of human genetics

Published: December 06, 2017

Showing 1-12 of 14

Last Updated: 09/26/2026