Susana Fernandes

6PUBLICATIONS
36CO-AUTHORS
NeurogeneticsCancer geneticsEpigenetics (incl. genome methylation and epigenomics)Medical virologyDevelopmental genetics (incl. sex determination)
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Publications (6)

|Sep 07, 2026
The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

|Apr 16, 2026
Genome Sequencing of Undiagnosed European Patients Suspected of Hereditary Cancer: Diagnostic Yield and Identification of Candidate Causative Variants.

|Sep 10, 2021
The CDH1 c.1901C>T Variant: A Founder Variant in the Portuguese Population with Severe Impact in mRNA Splicing.

Rita Barbosa-Matos, Rafaela Leal Silva, Luzia Garrido

|Jul 30, 2019
Clinical and molecular characterization of Y microdeletions and X-linked CNV67 implications in male fertility: a 20-year experience.

A Pinho, A Barros, S Fernandes

|Mar 16, 2017
DNA methylation imprinting errors in spermatogenic cells from maturation arrest azoospermic patients.

P I Marques, S Fernandes, F Carvalho

|Jul 04, 2015
Rare double sex and mab-3-related transcription factor 1 regulatory variants in severe spermatogenic failure.

A C Lima, F Carvalho, J Gonçalves

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Frequent Collaborators

2 joint publications

José Garcia-Pelaez

2 joint publications

Irene Gullo

2 joint publications

Carla Oliveira

1 joint publications

C J Marques