IZKF-J70 (M4): From gene to function: a translational pipeline for gene discovery and allele testing in kidney disease

FAU own research funding: EFI / IZKF / EAM ...

Start date : 01.10.2018

End date : 30.09.2021

Overview

Publications

(8)

Exome sequencing identifies a likely causative variant in 53% of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions (2024) Deutsch K, Klämbt V, Kitzler TM, Jobst-Schwan T, Schneider R, Buerger F, Seltzsam S, et al. Journal article Epigenomic and phenotypic characterization of DEGCAGS syndrome (2024) Karimi K, Weis D, Aukrust I, Hsieh TC, Horackova M, Paulsen J, Mendoza Londono R, et al. Journal article OXGR1 is a candidate disease gene for human calcium oxalate nephrolithiasis (2023) Majmundar AJ, Widmeier E, Heneghan JF, Daga A, Wu CHW, Buerger F, Hugo H, et al. Journal article Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases (2022) Wopperer F, Knaup K, Stanzick KJ, Schneider K, Jobst-Schwan T, Ekici AB, Uebe S, et al. Journal article Mutations in PRDM15 are a novel cause of galloway-mowat syndrome (2021) Mann N, Mzoughi S, Schneider R, Kuhl SJ, Schanze D, Klambt V, Lovric S, et al. Journal article Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis (2020) Jobst-Schwan T, Klambt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, et al. Journal article Tyrosine Phosphorylation of CD2AP Affects Stability of the Slit Diaphragm Complex (2019) Tossidou I, Teng B, Worthmann K, Müller-Deile J, Jobst-Schwan T, Kardinal C, Schroder P, et al. Journal article Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis (2019) Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, et al. Journal article