Chebl Mourani

Genotype–phenotype correlation in primary hyperoxaluria type 1: the p.Gly170Arg AGXT mutation is associated with a better outcome

Jérôme Harambat, Sonia Fargue, Cécile Acquaviva et al. · Kidney International · 2009 · 151 citations · Full text

Allelic Variant, Primary Hyperoxaluria, Genetic Disorder +10

ADCK4-Associated Glomerulopathy Causes Adolescence-Onset FSGS

Emine Korkmaz, Beata S. Lipska‐Ziętkiewicz, Olivia Boyer et al. · Journal of the American Society of Nephrology · 2015 · 98 citations · Full text

Glomerular Disease, Glomerulonephritis, Adck4 Mutations +15

PHYOX2: a pivotal randomized study of nedosiran in primary hyperoxaluria type 1 or 2

Michelle A. Baum, Craig B. Langman, Pierre Cochat et al. · Kidney International · 2022 · 97 citations · Full text

Urology, Primary Hyperoxaluria, Physiology +8

Lumasiran for Advanced Primary Hyperoxaluria Type 1: Phase 3 ILLUMINATE-C Trial

Mini Michael, Jaap W. Groothoff, Hadas Shasha‐Lavsky et al. · American Journal of Kidney Diseases · 2022 · 79 citations · Full text

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Nadine Jalkh, Sandra Corbani, Nadine Hamdan et al. · BMC Medical Genomics · 2019 · 56 citations · Full text