Gemma Bullich
Barcelona, CT, Spain
Last Updated: 09/26/2026
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Found 21 publications
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Journal: NPJ genomic medicine
Published: February 14, 2024
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Journal: Nature medicine
Published: May 01, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Journal: Genome medicine
Published: February 08, 2023
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Journal: The Journal of molecular diagnostics : JMD
Published: June 22, 2021
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Journal: International journal of molecular sciences
Published: January 08, 2021
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Journal: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
Published: July 28, 2020
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation
Published: May 16, 2020
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
Journal: The Journal of molecular diagnostics : JMD
Published: April 07, 2020
Autosomal Dominant Polycystic Kidney Disease: Clinical Assessment of Rapid Progression.
Journal: American journal of nephrology
Published: May 24, 2018
Last Updated: 09/26/2026