Eduardo Pérez-Palma, PhD
Universidad del Desarrollo
H-index: 22
Latin America-Chile
Top articles of Eduardo Pérez-Palma, PhD
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants | Biophysical Journal | Nisha Bhattarai Ludovica Montanucci Tobias Bruenger Eduardo Perez-Palma William Martin | 2024/2/8 |
Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies | Epilepsia | Declan Gallagher Eduardo Pérez‐Palma Tobias Bruenger Ismael Ghanty Eva Brilstra | 2024/1/3 |
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online | Bioinformatics | Marie Macnee Eduardo Pérez-Palma Tobias Brünger Chiara Klöckner Konrad Platzer | 2023/5/1 |
Data-driven historical characterization of epilepsy-associated genes | Marie Macnee Eduardo Pérez-Palma Javier A López-Rivera Alina Ivaniuk Patrick May | 2023/1/1 | |
Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome | Human Mutation | Yuri A Zarate Katherine Bosanko Amrit Kannan Ashlen Thomason Beth Nutt | 2023/4/26 |
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions | Brain | Javier A López-Rivera Costin Leu Marie Macnee Jean Khoury Lucas Hoffmann | 2023/4/3 |
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis | Brain | Arthur Stefanski Eduardo Pérez-Palma Tobias Brünger Ludovica Montanucci Cornelius Gati | 2023/12 |
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes | Brain | Tobias Brünger Eduardo Pérez-Palma Ludovica Montanucci Michael Nothnagel Rikke S Møller | 2023/3/1 |
SLC6A1: the past, present and future | Frontiers in Neuroscience | Katrine M Johannesen Eduardo Pérez-Palma Guido Rubboli | 2023/10/12 |
Delineation of functionally essential protein regions for 242 neurodevelopmental genes | Brain | Sumaiya Iqbal Tobias Brünger Eduardo Pérez-Palma Marie Macnee Andreas Brunklaus | 2023/2/1 |
Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria | medRxiv | Tobias Brünger Alina Ivaniuk Eduardo Pérez-Palma Ludovica Montanucci Stacey Cohen | 2023/8/24 |
P369: SATB2-associated syndrome severity score: Genotype/phenotype correlations and the SATB2 portal | Genetics in Medicine Open | Yuri Zarate Katherine Bosanko Amrit Kannan Ashlen Thomason Beth Nutt | 2023/1/1 |
Dataset-Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes | EDUARDO ESTEBAN PEREZ PALMA | 2022 | |
Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies | Topics in stroke rehabilitation | Min-Su Kim Min Cheol Joo Min Kyun Sohn Jongmin Lee Deog Young Kim | 2020/8/17 |
Incidence and prevalence of major epilepsy-associated brain lesions | Victoria Smuk Costin Leu Gaelle Nasr Deborah Vegh Arthur Stefanski | 2022 | |
Identification and quantification of oligogenic loss-of-function disorders | Genetics in Medicine | Arthur Stefanski Eduardo Pérez-Palma Marko Mrdjen Megan McHugh Costin Leu | 2022/3/1 |
Gene variant effects across sodium channelopathies predict function and guide precision therapy | Brain | Andreas Brunklaus Tony Feng Tobias Brünger Eduardo Perez-Palma Henrike Heyne | 2022/12/1 |
Structural mapping of GABRB3 variants reveals genotype–phenotype correlations | Genetics in Medicine | Katrine M Johannesen Sumaiya Iqbal Milena Guazzi Nazanin A Mohammadi Eduardo Pérez-Palma | 2022/3/1 |
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications | Brain | Andreas Brunklaus Tobias Brünger Tony Feng Carmen Fons Anni Lehikoinen | 2022/11/1 |
Epilepsy genetics and precision medicine in adults: a new landscape for developmental and epileptic encephalopathies | Álvaro Beltrán-Corbellini Ángel Aledo-Serrano Rikke S Møller Eduardo Pérez-Palma Irene García-Morales | 2022/2/17 |
Co-Authors
