Ana Santos‐Gómez

<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 et al. · Science Signaling · 2019 · 82 citations

<i>GRIN</i> database: A unified and manually curated repertoire of <i>GRIN</i> variants

Adrián García‐Recio, Ana Santos‐Gómez, David Soto et al. · Human Mutation · 2020 · 45 citations

Relational Database, Engineering, Disease Gene Identification +23

Disease-associated GRIN protein truncating variants trigger NMDA receptor loss-of-function

Ana Santos‐Gómez, Federico Míguez‐Cabello, Adrián García‐Recio et al. · Human Molecular Genetics · 2020 · 33 citations · Full text

Imaging Genomics, Molecular Neuroscience, Variant Interpretation +15

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 et al. · Brain · 2024 · 25 citations

Evidence for effect of l-serine, a novel therapy for GRIN2B-related neurodevelopmental disorder

Bibiche den Hollander, A.R.J. Veenvliet, Marieke Rothuizen‐Lindenschot et al. · Molecular Genetics and Metabolism · 2023 · 14 citations · Full text