Ana Santos‐Gómez - Concepedia

Author

Ana Santos‐Gómez

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer

Also Known As

A. Santos-Gómez, A. Santos‐Gómez, Ana Santos-Gómez, Ana Santos‐Gómez

Publications

217

Citations

H-Index

Concepts

All Affiliations

Consorci Institut D'Investigacions Biomediques August Pi I Sunyer Universitat de Barcelona Universitat de Vic - Universitat Central de Catalunya Hospital Sant Joan de Déu Barcelona Centre for Biomedical Network Research on Rare Diseases

About

Ana Santos‐Gómez is an author at Consorci Institut D'Investigacions Biomediques August Pi I Sunyer specializing in neurology, neuropathology, and medicine.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	2	2	78
2	Engineering	1	1	45
3	Social Sciences	1	1	33
4	Computer Science	1	1	45
5	Data Science	1	1	45

Ana Santos‐Gómez

Publications

210

Citations

H-Index

Page 1

	Year	Citations
<scp>l</scp> -Serine dietary supplementation is associated with clinical improvement of loss-of-function <i>GRIN2B</i> -related pediatric encephalopathy David Soto, Mireia Olivella, C. J. Alejos Grau, Science Signaling	2019	82
<i>GRIN</i> database: A unified and manually curated repertoire of <i>GRIN</i> variants Adrián García‐Recio, Ana Santos‐Gómez, David Soto, Human Mutation Relational DatabaseEngineeringDisease Gene IdentificationNatural Language ProcessingInformation Retrieval	2020	45
Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function Ana Santos‐Gómez, Federico Míguez‐Cabello, Adrián García‐Recio, Human Molecular Genetics Imaging GenomicsMolecular NeuroscienceVariant InterpretationGeneticsGenetic Epidemiology	2020	33
L-serine treatment in patients with <i>GRIN</i>-related encephalopathy: a phase 2A, non-randomized study Natalia Juliá‐Palacios, Mireia Olivella, Mariya Sigatullina Bondarenko, Brain	2024	25
Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder Bibiche den Hollander, A.R.J. Veenvliet, Marieke Rothuizen‐Lindenschot, Molecular Genetics and Metabolism	2023	14
Paradigmatic De Novo GRIN1 Variants Recapitulate Pathophysiological Mechanisms Underlying GRIN1-Related Disorder Clinical Spectrum Ana Santos‐Gómez, Federico Míguez‐Cabello, Natalia Juliá‐Palacios, International Journal of Molecular Sciences	2021	11

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