Marc Pybus - Publications

Gut IgA functionally interacts with systemic IgG to enhance antipneumococcal vaccine responses.

Journal: Science advances

Published: February 12, 2025

Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermia.

Journal: Human reproduction open

Published: January 24, 2025

When should the nephrologist think about genetics in patients with glomerular diseases?

Journal: Clinical kidney journal

Published: December 17, 2024

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the PHEX Gene.

Journal: Genes

Published: April 26, 2024

Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: July 10, 2023

Immunomolecular and reactivity landscapes of gut IgA subclasses in homeostasis and inflammatory bowel disease.

Journal: The Journal of experimental medicine

Published: January 12, 2023

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.

Journal: American journal of human genetics

Published: March 24, 2022

Comparative analysis of tools to predict rapid progression in autosomal dominant polycystic kidney disease.

Journal: Clinical kidney journal

Published: August 11, 2021

Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: June 23, 2021

Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.

Journal: Journal of human genetics

Published: November 20, 2020

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.

Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

Published: July 28, 2020

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: May 16, 2020