M. Halty

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.

Shrikant Mane, R. Lifton, Z. Gucev, 2018, Kidney international.

Nephrology in Uruguay

F. Gonzalez-Martinez, O. Noboa, L. Gadola, 2021 .

Whole genome sequencing reveals a frameshift mutation and a large deletion in YY1AP1 in a girl with a panvascular artery disease

Jeong-Sun Seo, Jong-Yeon Shin, Hugo Naya, 2021, Human Genomics.