🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Àngels García‐Cazorla

Hospital Sant Joan de Déu Barcelona

ORCID: 0000-0001-9853-688X
Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 8 papers. Top paper: “Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder”.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Journal of Neurodevelopmental Disorders(2024)10.1186/s11689-024-09538-9
N/A
0.438DataRank · unranked
10 citations

Jean‐Baptiste Roullet, Wardiya Afshar Saber, Henry H.C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty +12 more

Efficacy of baricitinib on chronic pericardial effusion in a patient with Aicardi–Goutières syndrome

Lara D. Veeken(2021)10.1093/rheumatology/keab860
N/A
0DataRank · unranked
9 citations

Alejandra Darling, Eva Caballero, Anna Mensa‐Vilaró, Joaquim Bartrons, Jordi Antón +4 more

The presence and severity of epilepsy coincide with reduced γ‐aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency

Epilepsia(2023)10.1111/epi.17592
N/A
0DataRank · unranked
24 citations

Mariarita Bertoldi, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Paul MacMullin +11 more

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants

Research Square(2023)10.21203/rs.3.rs-3111263/v1
N/A
0DataRank · unranked
3 citations

Jean‐Baptiste Roullet, Samuele Cesaro, Melissa L. DiBacco, Erland Arning, Alexander Rotenberg +9 more

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108363
N/A
0DataRank · unranked
11 citations

Mariarita Bertoldi, Nenad Blau, Melissa L. DiBacco, Sarah H. Elsea, Àngels García‐Cazorla +19 more

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

European Journal of Human Genetics(2024)10.1038/s41431-023-01526-2
N/A
0DataRank · unranked
10 citations

Natalia Juliá‐Palacios, Roser Urreizti, Ana Sánchez‐Cuesta, Daniel J.M. Fernández‐Ayala, Elena García-Díaz +21 more

Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome

Acta Neuropathologica(2020)10.1007/s00401-020-02223-w
N/A
0DataRank · unranked
46 citations

Edgard Verdura, Natalia Juliá‐Palacios, Eric N. Anderson, Leire Goicoechea, Laura Planas‐Serra +33 more

“Trafficking Disorders: Phenotypical Similarities and Differences With Other IMDs ”

Journal of Inherited Metabolic Disease(2025)10.1002/jimd.70004
N/A
0DataRank · unranked
3 citations

Éva Morava, Jean‐Marie Saudubray, Àngels García‐Cazorla