| 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 | 131 | 2020 |
| 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 | 129 | 2021 |
| 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 | 126 | 2020 |
| Wnt/β-catenin signaling in Alzheimer’s disease G De V. Ferrari, M E. Avila, M A. Medina, E Perez-Palma, B I. Bustos, ... CNS & Neurological Disorders-Drug Targets-CNS & Neurological Disorders) 13 …, 2014 | 116 | 2014 |
| 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 | 90 | 2022 |
| Spectrum of GABAA receptor variants in epilepsy S Maljevic, RS Møller, CA Reid, E Pérez-Palma, D Lal, P May, H Lerche Current opinion in neurology 32 (2), 183-190, 2019 | 87 | 2019 |
| 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 | 85 | 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 | 75 | 2019 |
| Current knowledge of SLC6A1-related neurodevelopmental disorders K Goodspeed, E Pérez-Palma, S Iqbal, D Cooper, A Scimemi, ... Brain communications 2 (2), fcaa170, 2020 | 70 | 2020 |
| 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 | 69 | 2022 |
| 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 | 69 | 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 | 69 | 2020 |
| 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 | 68 | 2014 |
| 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 | 64 | 2019 |
| 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 | 63 | 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 | 58 | 2020 |
| The genomic landscape across 474 surgically accessible epileptogenic human brain lesions JA López-Rivera, C Leu, M Macnee, J Khoury, L Hoffmann, R Coras, ... Brain 146 (4), 1342-1356, 2023 | 53 | 2023 |
| 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 | 53 | 2019 |
| 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 | 52 | 2013 |
| 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 | 46 | 2022 |
Dennis LalDirector of the Center for Neurogenetics at UTHealth; Visiting Scientist at Broad InstituteEmail verificata su broadinstitute.org
