Gemma Bullich

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study

Mónica Furlano, Víctor Martínez, Marc Pybus et al. · American Journal of Kidney Diseases · 2021 · 107 citations · Full text

Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players

Andrea Domingo-Gallego, Marc Pybus, Gemma Bullich et al. · Nephrology Dialysis Transplantation · 2021 · 102 citations

Diagnosis of autosomal dominant polycystic kidney disease using efficient <i>PKD1</i> and <i>PKD2</i> targeted next‐generation sequencing

Daniel Trujillano, Gemma Bullich, Stephan Ossowski et al. · Molecular Genetics & Genomic Medicine · 2014 · 76 citations · Full text

Engineering, Pathology, Bioinformatics Analysis +18

Autosomal Dominant Tubulointerstitial Kidney Disease: Clinical Presentation of Patients With ADTKD-UMOD and ADTKD-MUC1

Nadia Ayasreh, Gemma Bullich, Rosa Miquel et al. · American Journal of Kidney Diseases · 2018 · 70 citations

Glomerular Disease, Glomerulonephritis, Urology +10

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Steven Laurie, Davide Piscia, Leslie Matalonga et al. · Human Mutation · 2022 · 60 citations · Full text

Accelerating Diagnosis, Engineering, Genetics +22