Publications:

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

European Journal Of Human Genetics : Ejhg

Smogavec, Mateja M; Gerykova Bujalkova, Maria M; Lehner, Reinhard R; Neesen, Jürgen J; Behunova, Jana J; Yerlikaya-Schatten, Gülen G; Reischer, Theresa T; Altmann, Reinhard R; Weis, Denisa D; Duba, Hans-Christoph HC; Laccone, Franco F

Publication Date: 2022-04

Variant appearance in text: PKD1: 11872G>C; Ala3958Pro

PubMed Link: 34974531

Variant Present in the following documents:

• Main text
• 41431_2021_Article_1012.pdf

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Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Frontiers In Genetics

Mantovani, Vilma V; Bin, Sofia S; Graziano, Claudio C; Capelli, Irene I; Minardi, Raffaella R; Aiello, Valeria V; Ambrosini, Enrico E; Cristalli, Carlotta Pia CP; Mattiaccio, Alessandro A; Pariali, Milena M; De Fanti, Sara S; Faletra, Flavio F; Grosso, Enrico E; Cantone, Rachele R; Mancini, Elena E; Mencarelli, Francesca F; Pasini, Andrea A; Wischmeijer, Anita A; Sciascia, Nicola N; Seri, Marco M; La Manna, Gaetano G

Publication Date: 2020

Variant appearance in text: PKD1: A3958P

PubMed Link: 32457805

Variant Present in the following documents:

• Main text
• fgene-11-00464.pdf

View BVdb publication page