Eduardo Pérez-Palma, PhD
Eduardo Pérez-Palma, PhD
Associate Professor, Centro de Genetica y Genomica, Facultad de Medicina, Universidad del Desarrollo
Verified email at - Homepage
Cited by
Cited by
Wnt/β-catenin signaling in Alzheimer’s disease
DV Ferrari, M E Avila, M A Medina, E Pérez-Palma, B I Bustos, ...
CNS & Neurological Disorders-Drug Targets (Formerly Current Drug Targets-CNS …, 2014
Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies
E Perez-Palma, BI Bustos, CF Villaman, MA Alarcon, ME Avila, GD Ugarte, ...
PloS one 9 (4), e95413, 2014
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ...
Science translational medicine 12 (556), eaay6848, 2020
A novel functional low-density lipoprotein receptor-related protein 6 gene alternative splice variant is associated with Alzheimer's disease
MA Alarcón, MA Medina, Q Hu, ME Avila, BI Bustos, E Pérez-Palma, ...
Neurobiology of Aging 34 (6), 1709. e9-1709. e18, 2013
Spectrum of GABAA receptor variants in epilepsy
S Maljevic, RS Mřller, CA Reid, E Pérez-Palma, D Lal, P May, H Lerche
Current Opinion in Neurology 32 (2), 183-190, 2019
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants
JA López-Rivera, E Pérez-Palma, J Symonds, AS Lindy, DA McKnight, ...
Brain 143 (4), 1099-1105, 2020
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database
E Pérez-Palma, M Gramm, P Nürnberg, P May, D Lal
Nucleic acids research 47 (W1), W99-W105, 2019
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
MK Kelly, M Park, I Mihalek, A Rochtus, M Gramm, E Pérez‐Palma, ...
Epilepsia 60 (3), 406-418, 2019
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta‐analysis
A Stefanski, Y Calle‐López, C Leu, E Pérez‐Palma, E Pestana‐Knight, ...
Epilepsia 62 (1), 143-151, 2021
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants
S Iqbal, E Pérez-Palma, JB Jespersen, P May, D Hoksza, HO Heyne, ...
Proceedings of the National Academy of Sciences 117 (45), 28201-28211, 2020
SCN1A variants from bench to bedside—improved clinical prediction from functional characterization
A Brunklaus, S Schorge, AD Smith, I Ghanty, K Stewart, S Gardiner, J Du, ...
Human Mutation 41 (2), 363-374, 2020
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry
BI Bustos, E Pérez-Palma, S Buch, L Azócar, E Riveras, GD Ugarte, ...
Scientific reports 9 (1), 1-12, 2019
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
D Lal, P May, E Perez-Palma, KE Samocha, JA Kosmicki, EB Robinson, ...
Genome medicine 12 (1), 1-12, 2020
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects
LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ...
Brain 143 (7), 2106-2118, 2020
Identification of pathogenic variant enriched regions across genes and gene families
E Pérez-Palma, P May, S Iqbal, LM Niestroj, J Du, HO Heyne, ...
Genome research 30 (1), 62-71, 2020
Current knowledge of SLC6A1-related neurodevelopmental disorders
K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ...
Brain communications 2 (2), fcaa170, 2020
Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies
E Pérez-Palma, I Helbig, KM Klein, V Anttila, H Horn, EM Reinthaler, ...
Journal of medical genetics 54 (9), 598-606, 2017
Early transcriptional changes induced by Wnt/β-catenin signaling in hippocampal neurons
E Pérez-Palma, V Andrade, MO Caracci, BI Bustos, C Villaman, ...
Neural plasticity 2016, 2016
Whole genome sequence, variant discovery and annotation in Mapuche-Huilliche Native South Americans
EA Vidal, TC Moyano, BI Bustos, E Pérez-Palma, C Moraga, E Riveras, ...
Scientific reports 9 (1), 1-11, 2019
Gene family information facilitates variant interpretation and identification of disease-associated genes
D Lal, P May, KE Samocha, JA Kosmicki, EB Robinson, RS Mřller, ...
BioRxiv, 159780, 2017
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