Pilar Barrúz

Coexistence of autosomal dominant polycystic kidney disease type 1 and hereditary renal hypouricemia type 2: A model of early‐onset and fast cyst progression

P. Lapunzina, J. Nevado, R. Peces, 2020, Clinical genetics.

International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

A. Battaglia, E. López-Granados, J. Carey, 2019, American journal of medical genetics. Part A.

Effect of HIV infection and antiretroviral therapy initiation on genome-wide DNA methylation patterns

B. Rodés, J. Nevado, F. Raffi, 2023, EBioMedicine.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome

M. Burmeister, H. Kayserili, P. Lapunzina, 2017, Human molecular genetics.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

J. Cigudosa, B. Gener, L. Pérez-Jurado, 2022, Frontiers in Genetics.

Longitudinal changes in epigenetic age acceleration in aviremic HIV-infected recipients of long-term antiretroviral treatment.

B. Rodés, J. Nevado, J. Arribas, 2021, The Journal of infectious diseases.

Epigenetic age acceleration changes 2 years after antiretroviral therapy initiation in adults with HIV: a substudy of the NEAT001/ANRS143 randomised trial.

B. Rodés, A. Antinori, J. Nevado, 2021, The lancet. HIV.

Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2021, Frontiers in Genetics.