Gerard Muñoz‐Pujol

Statistics

Publications

Citations

293

H-Index

Active since

2021

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Hospital Clínic de Barcelona

Helmholtz Zentrum München

Technical University of Munich

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Gerard Muñoz‐Pujol is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medical genetics, life sciences, and genetics.

ORCID

Publications per year

2021–2022

Publications

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · Genome Medicine · 2022 · 207 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich et al. · medRxiv · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

Gemma Bullich, Leslie Matalonga, Montserrat Pujadas et al. · Journal of Molecular Diagnostics · 2022 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Leigh syndrome is the main clinical characteristic of <scp>PTCD3</scp> deficiency

Gerard Muñoz‐Pujol, Juan Darío Ortigoza‐Escobar, Abraham J. Paredes‐Fuentes et al. · Brain Pathology · 2022 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk et al. · medRxiv · 2021 · 11 citations · Full text

Life Sciences, Genetics, Pediatrics +14

1–5 of 5