Igor Pediaditakis

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Michael J Parker, Katrina Tatton-Brown, Christian Gilissen, 2015, American journal of human genetics.

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

Jianqiu Xiao, R. Gbadegesin, E. Davis, 2018, Journal of the American Society of Nephrology : JASN.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

A. Hoischen, G. Mortier, H. Brunner, 2016, American journal of human genetics.

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

J. Lupski, A. Sabo, R. Lewis, 2016, American journal of human genetics.

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.

D. Goldstein, S. Mane, G. Ardissino, 2017, American journal of human genetics.

Erratum : Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations (The American Journal of Human Genetics (2017) 101(5) (789–802) (S0002929717303877) (10.1016/j.ajhg.2017.09.018))

D. Goldstein, S. Mane, G. Ardissino, 2017 .