Anna Marcé‐Grau

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

Vincenzo Salpietro, Nancy T. Malintan, Isabel Llano‐Rivas et al. · The American Journal of Human Genetics · 2019 · 127 citations · Full text

Life Sciences, Neurobiology, Neuroscience +12

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Birte Zurek, Kornelia Ellwanger, Lisenka E.L.M. Vissers et al. · European Journal of Human Genetics · 2021 · 103 citations · Full text

Life Sciences, Bioinformatics, Biomedical Informatics +15

Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

Dèlia Yubero, Raquel Montero, Miguel Á. Martín et al. · Mitochondrion · 2016 · 78 citations

Life Sciences, Biochemistry, Physiology +15

Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría et al. · Brain · 2021 · 50 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Steven Laurie, Kiran Polavarapu, Nika Schuermans et al. · Nature Medicine · 2025 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17