Follow
Eduardo Pérez-Palma, PhD
Eduardo Pérez-Palma, PhD
Associate Professor, Centro de Genetica y Genomica, Facultad de Medicina, Universidad del Desarrollo
Verified email at udd.cl - Homepage
Title
Cited by
Cited by
Year
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
1092014
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
982020
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
972021
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
882020
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
722019
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
712020
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
672019
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
662014
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, 1-12, 2020
612020
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
602019
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
562020
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen, E Panagiotakaki, ...
Brain 145 (11), 3816-3831, 2022
552022
Current knowledge of SLC6A1-related neurodevelopmental disorders
K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ...
Brain communications 2 (2), fcaa170, 2020
552020
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
522020
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
502013
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
492020
Gene variant effects across sodium channelopathies predict function and guide precision therapy
A Brunklaus, T Feng, T Brünger, E Perez-Palma, H Heyne, E Matthews, ...
Brain 145 (12), 4275-4286, 2022
482022
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), 772, 2019
462019
Epilepsy genetics and precision medicine in adults: a new landscape for developmental and epileptic encephalopathies
Á Beltrán-Corbellini, Á Aledo-Serrano, RS Mřller, E Pérez-Palma, ...
Frontiers in Neurology 13, 777115, 2022
332022
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies
A Brunklaus, E Pérez-Palma, I Ghanty, J Xinge, E Brilstra, B Ceulemans, ...
Neurology 98 (11), e1163-e1174, 2022
302022
The system can't perform the operation now. Try again later.
Articles 1–20