Robert Kleta

Rowland Hill Street
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 106 publications

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Familial medullary thyroid carcinoma secondary to an SLC30A9 intragenic deletion and translation reinitiation.

Journal: medRxiv : the preprint server for health sciences

Published: March 18, 2026

Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.

Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.

Journal: Kidney international reports

Published: February 26, 2026

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.

Journal: medRxiv : the preprint server for health sciences

Published: January 10, 2024

Rare disease gene association discovery in the 100,000 Genomes Project.

Rare disease gene association discovery in the 100,000 Genomes Project.

Journal: Nature

Published: December 19, 2023

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility.

Journal: Frontiers in cell and developmental biology

Published: June 16, 2023

The pathophysiology of distal renal tubular acidosis.

The pathophysiology of distal renal tubular acidosis.

Journal: Nature reviews. Nephrology

Published: February 27, 2023

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.

Common Risk Variants in AHI1 Are Associated With Childhood Steroid Sensitive Nephrotic Syndrome.

Journal: Kidney international reports

Published: February 03, 2023

Membranous nephropathy in the UK Biobank.

Membranous nephropathy in the UK Biobank.

Journal: PloS one

Published: January 31, 2023

A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.

A Neanderthal haplotype introgressed into the human genome confers protection against membranous nephropathy.

Journal: Kidney international

Published: January 19, 2023

Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.

Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndrome.

Journal: Pediatric nephrology (Berlin, Germany)

Published: August 03, 2022

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.

Journal: Human genetics

Published: June 15, 2022

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy.

A Genetic Risk Score Distinguishes Different Types of Autoantibody-Mediated Membranous Nephropathy.

Journal: Glomerular diseases

Published: February 14, 2022

Showing 1-12 of 106

Last Updated: 09/26/2026