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Employment (3)

Universidad del Desarrollo : Santiago, Santiago, CL

Profesor Investigador (Facultad de Medicina )
Employment
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Universidad del Desarrollo via ORCID Member Portal

Cleveland Clinic: Cleveland, OH, US

2019-03-15 to 2020-09-15 | Research associate (Genomic Medicine Institute, Lerner Research Institute)
Employment
Source: Self-asserted source
Eduardo Pérez-Palma

University of Cologne: Cologne, DE

2017-03-01 to 2019-02-28 | Postodoctoral Fellow (Cologne Center for Genomics)
Employment
Source: Self-asserted source
Eduardo Pérez-Palma

Education and qualifications (2)

Universidad Andrés Bello: Santiago, Metropolitana de Santiago, CL

2011-03-01 to 2017-01-15 | PhD (Departamento de Ciencias Biológicas)
Education
Source: Self-asserted source
Eduardo Pérez-Palma

Universidad de Concepción: Concepción, Región del Bío Bío, CL

2005-03-01 to 2011-03-31 | Bioengineering (Facultad de ciencias biológicas)
Education
Source: Self-asserted source
Eduardo Pérez-Palma

Works (50 of 53)

Items per page:
Page 1 of 2

Enhancing Rare Disease Education through AI-Driven Podcast Generation

2025-01-28 | Preprint
DOI: 10.1101/2025.01.27.25320972
Contributors: Eduardo Perez-Palma; Ilene Miller; Katrine Johannesen; Lauren Chaby; Lindsay Randall; Mike Graglia; Caitlin Grzeskowiak; Lisa Manaster; Laura Lubbers; Amber Freed et al.
Source: check_circle
Crossref

Estimating the Global Market Size for Disease-Modifying Therapies in Epilepsy Caused by Haploinsufficiency

2025-01-22 | Preprint
DOI: 10.1101/2025.01.20.25320871
Contributors: Eduardo Pérez-Palma; Tobias Brünger; Samden Lhatoo; Guo-Qiang Zhang; Fabio A Nascimento; Dennis Lal
Source: check_circle
Crossref

Genotype–phenotype associations in 1018 individuals with <i>SCN1A</i>‐related epilepsies

Epilepsia
2024-04 | Journal article
DOI: 10.1111/epi.17882
Part of ISSN: 0013-9580
Part of ISSN: 1528-1167
Contributors: Declan Gallagher; Eduardo Pérez‐Palma; Tobias Bruenger; Ismael Ghanty; Eva Brilstra; Berten Ceulemans; Nicole Chemaly; Iris de Lange; Christel Depienne; Renzo Guerrini et al.
Source: Self-asserted source
Eduardo Pérez-Palma

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of fourSCN2Avariants

2024-02-21 | Preprint
DOI: 10.1101/2024.02.19.580930
Contributors: Nisha Bhattarai; Ludovica Montanucci; Tobias Brünger; Eduardo Pérez-Palma; William Martin; Iris Nira Smith; Charis Eng; Feixiong Cheng; Ingo Helbig; Rikke S Møller et al.
Source: check_circle
Crossref

Editorial: SLC6A1: the past, present and future

Frontiers in Neuroscience
2023-10-12 | Journal article
DOI: 10.3389/fnins.2023.1289821
Part of ISSN: 1662-453X
Contributors: Katrine M. Johannesen; Eduardo Pérez-Palma; Guido Rubboli
Source: Self-asserted source
Eduardo Pérez-Palma

Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria

2023-08-24 | Preprint
DOI: 10.1101/2023.08.22.23294353
Contributors: Tobias; Alina Ivaniuk; Eduardo Pérez-Palma; Ludovica Montanucci; Stacey Cohen; Lacey Smith; Shridhar Parthasarathy; Ingo Helbig; Michael Nothnagel; Patrick May et al.
Source: Self-asserted source
Eduardo Pérez-Palma

CNV-ClinViewer: Enhancing the clinical interpretation of large copy-number variants online

Bioinformatics
2023-04-27 | Journal article
DOI: 10.1093/bioinformatics/btad290
Part of ISSN: 1367-4803
Part of ISSN: 1367-4811
Contributors: Marie Macnee; Eduardo Pérez-Palma; Tobias Brünger; Chiara Klöckner; Konrad Platzer; Arthur Stefanski; Ludovica Montanucci; Allan Bayat; Maximilian Radtke; Ryan L Collins et al.
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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Quantitative Phenotype Morbidity Description of SATB2-Associated Syndrome

Human Mutation
2023-04-26 | Journal article | Author
DOI: 10.1155/2023/8200176
Part of ISSN: 1098-1004
Contributors: Zarate YA; Katherine Bosanko; Amrit Kannan; Ashlen Thomason; Beth Nutt; Nihit Kumar; Kirt Simmons; Aaron Hiegert; Larry Hartzell; Adam Johnson et al.
Source: Self-asserted source
Eduardo Pérez-Palma

The genomic landscape across 474 surgically accessible epileptogenic human brain lesions

Brain
2023-04-19 | Journal article
DOI: 10.1093/brain/awac376
Contributors: Javier A López-Rivera; Costin Leu; Marie Macnee; Jean Khoury; Lucas Hoffmann; Roland Coras; Katja Kobow; Nisha Bhattarai; Eduardo Pérez-Palma; Hajo Hamer et al.
Source: check_circle
Crossref

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

Brain
2023-03-01 | Journal article
DOI: 10.1093/brain/awac305
Contributors: Tobias Brünger; Eduardo Pérez-Palma; Ludovica Montanucci; Michael Nothnagel; Rikke S Møller; Stephanie Schorge; Sameer Zuberi; Joseph Symonds; Johannes R Lemke; Andreas Brunklaus et al.
Source: check_circle
Crossref

Delineation of functionally essential protein regions for 242 neurodevelopmental genes

Brain
2023-02-13 | Journal article
DOI: 10.1093/brain/awac381
Contributors: Sumaiya Iqbal; Tobias Brünger; Eduardo Pérez-Palma; Marie Macnee; Andreas Brunklaus; Mark J Daly; Arthur J Campbell; David Hoksza; Patrick May; Dennis Lal
Source: check_circle
Crossref

Data-driven historical characterization of epilepsy-associated genes

European Journal of Paediatric Neurology
2023-01 | Journal article
DOI: 10.1016/j.ejpn.2022.12.005
Contributors: Marie Macnee; Eduardo Pérez-Palma; Javier A. López-Rivera; Alina Ivaniuk; Patrick May; Rikke S. Møller; Dennis Lal
Source: check_circle
Crossref

Copy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders

Neuromethods
2022 | Book chapter
DOI: 10.1007/978-1-0716-2357-2_10
Part of ISBN: 9781071623565
Part of ISBN: 9781071623572
Part of ISSN: 0893-2336
Part of ISSN: 1940-6045
Contributors: Eduardo Pérez-Palma
Source: Self-asserted source
Eduardo Pérez-Palma

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact

The American Journal of Human Genetics
2022-08 | Journal article
DOI: 10.1016/j.ajhg.2022.07.003
Part of ISSN: 0002-9297
Contributors: Eduardo Pérez-Palma
Source: Self-asserted source
Eduardo Pérez-Palma

The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain
2022-06-13 | Journal article
DOI: 10.1093/brain/awac210
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Contributors: Eduardo Pérez-Palma
Source: Self-asserted source
Eduardo Pérez-Palma

Analysing an allelic series of rare missense variants of <i>CACNA1I</i> in a Swedish schizophrenia cohort

Brain
2022-06-03 | Journal article
DOI: 10.1093/brain/awab443
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Contributors: David Baez-Nieto; Andrew Allen; Seth Akers-Campbell; Lingling Yang; Nikita Budnik; Amaury Pupo; Young-Cheul Shin; Giulio Genovese; Maofu Liao; Eduardo Pérez-Palma et al.
Source: Self-asserted source
Eduardo Pérez-Palma

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Genetics in Medicine
2022-03 | Journal article
DOI: 10.1016/j.gim.2021.11.004
Part of ISSN: 1098-3600
Contributors: Katrine M. Johannesen; Sumaiya Iqbal; Milena Guazzi; Nazanin A. Mohammadi; Eduardo Pérez-Palma; Elise Schaefer; Anne De Saint Martin; Marie Therese Abiwarde; Amy McTague; Roser Pons et al.
Source: Self-asserted source
Eduardo Pérez-Palma

Incidence and prevalence of major epilepsy-associated brain lesions

Epilepsy &amp; Behavior Reports
2022-02 | Journal article
DOI: 10.1016/j.ebr.2022.100527
Part of ISSN: 2589-9864
Source: Self-asserted source
Eduardo Pérez-Palma

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

Frontiers in Neurology
2022-02-17 | Journal article
DOI: 10.3389/fneur.2022.777115
Part of ISSN: 1664-2295
Source: Self-asserted source
Eduardo Pérez-Palma

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

Neurology
2022-01-24 | Journal article
DOI: 10.1212/WNL.0000000000200028
Contributors: Andreas Brunklaus; Eduardo Pérez-Palma; Ismael Ghanty; Ji Xinge; Eva Brilstra; Berten Ceulemans; Nicole Chemaly; Iris de Lange; Christel Depienne; Renzo Guerrini et al.
Source: check_circle
Crossref

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : a journal of neurology
2022-01-17 | Journal article
DOI: 10.1093/brain/awac006
PMID: 35037686
Source: Self-asserted source
Eduardo Pérez-Palma

SimText: A text mining framework for interactive analysis and visualization of similarities among biomedical entities

Bioinformatics
2021-05-25 | Journal article
DOI: 10.1093/bioinformatics/btab365
Part of ISSN: 1367-4803
Part of ISSN: 1460-2059
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

Genome Medicine
2020 | Journal article
DOI: 10.1186/s13073-020-00725-6
EID:

2-s2.0-85082059954

Part of ISSN: 1756994X
Contributors: Lal, D.; May, P.; Perez-Palma, E.; Samocha, K.E.; Kosmicki, J.A.; Robinson, E.B.; Møller, R.S.; Krause, R.; Nürnberg, P.; Weckhuysen, S. et al.
Source: Self-asserted source
Eduardo Pérez-Palma via Scopus - Elsevier
grade
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Polygenic risk heterogeneity among focal epilepsies

Epilepsia
2020 | Journal article
DOI: 10.1111/epi.16717
EID:

2-s2.0-85092377817

Part of ISSN: 15281167 00139580
Contributors: Gramm, M.; Leu, C.; Pérez-Palma, E.; Ferguson, L.; Jehi, L.; Daly, M.J.; Najm, I.M.; Busch, R.M.; Lal, D.
Source: Self-asserted source
Eduardo Pérez-Palma via Scopus - Elsevier

Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.

Epilepsia
2020-11-17 | Journal article
DOI: 10.1111/epi.16755
PMID: 33200402
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants

Proceedings of the National Academy of Sciences
2020-11-10 | Journal article
DOI: 10.1073/pnas.2002660117
Part of ISSN: 0027-8424
Part of ISSN: 1091-6490
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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Genome-Wide Analysis of Copy Number Variation in Latin American Parkinson's Disease Patients.

Movement disorders : official journal of the Movement Disorder Society
2020-11-05 | Journal article
DOI: 10.1002/mds.28353
PMID: 33150996
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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Predicting functional effects of missense variants in voltage-gated sodium and calcium channels.

Science translational medicine
2020-08-01 | Journal article
DOI: 10.1126/scitranslmed.aay6848
PMID: 32801145
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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SimText: A text mining framework for interactive analysis and visualization of similarities among biomedical entities

2020-07-07 | Preprint
DOI: 10.1101/2020.07.06.190629
Contributors: Marie Gramm; Eduardo Pérez-Palma; Sarah Schumacher-Bass; Jarrod Dalton; Costin Leu; Daniel Blank-enberg; Dennis Lal
Source: check_circle
Crossref

Current knowledge of SLC6A1-related neurodevelopmental disorders

Brain Communications
2020-07-01 | Journal article | Author
DOI: 10.1093/braincomms/fcaa170
Part of ISSN: 2632-1297
Contributors: Kimberly Goodspeed; Eduardo Pérez-Palma; Sumaiya Iqbal; Dominique Cooper; Annalisa Scimemi; Katrine M Johannesen; Arthur Stefanski; Scott Demarest; Katherine Helbig; Jingqiong Kang et al.
Source: Self-asserted source
Eduardo Pérez-Palma

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Brain : a journal of neurology
2020-06-22 | Journal article
DOI: 10.1093/brain/awaa171
PMID: 32568404
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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The role of sodium channels in sudden unexpected death in pediatrics

Molecular Genetics & Genomic Medicine
2020-05-25 | Journal article
DOI: 10.1002/mgg3.1309
Part of ISSN: 2324-9269
Part of ISSN: 2324-9269
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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MISCAST: MIssense variant to protein StruCture Analysis web SuiTe

Nucleic Acids Research
2020-05-13 | Journal article
DOI: 10.1093/nar/gkaa361
Part of ISSN: 0305-1048
Part of ISSN: 1362-4962
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

Brain
2020-03-13 | Journal article
DOI: 10.1093/brain/awaa051
Part of ISSN: 0006-8950
Part of ISSN: 1460-2156
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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Copy number variants in lipid metabolism genes are associated with gallstones disease in men

European Journal of Human Genetics
2020-02-04 | Journal article
DOI: 10.1038/s41431-019-0501-7
Contributors: Eduardo Pérez-Palma; Bernabé I. Bustos; Dennis Lal; Stephan Buch; Lorena Azocar; Mohammad Reza Toliat; Wolfgang Lieb; Andre Franke; Sebastian Hinz; Greta Burmeister et al.
Source: check_circle
Crossref
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Identification of pathogenic variant enriched regions across genes and gene families

Genome Research
2020-01-23 | Journal article
DOI: 10.1101/gr.252601.119
Contributors: Eduardo Pérez-Palma; Patrick May; Sumaiya Iqbal; Lisa-Marie Niestroj; Juanjiangmeng Du; Henrike O. Heyne; Jessica A. Castrillon; Anne O'Donnell-Luria; Peter Nürnberg; Aarno Palotie et al.
Source: check_circle
Crossref
grade
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Assessment of genetic variant burden in epilepsy-associated brain lesions

European Journal of Human Genetics
2019 | Journal article
DOI: 10.1038/s41431-019-0484-4
EID:

2-s2.0-85069901296

Part of ISSN: 14765438 10184813
Contributors: Niestroj, L.-M.; May, P.; Artomov, M.; Kobow, K.; Coras, R.; Pérez-Palma, E.; Altmüller, J.; Thiele, H.; Nürnberg, P.; Leu, C. et al.
Source: Self-asserted source
Eduardo Pérez-Palma via Scopus - Elsevier

Time to move beyond genetics towards biomedical data-driven translational genomic research in severe paediatric epilepsies.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2019-12-17 | Journal article
DOI: 10.1016/j.ejpn.2019.12.001
PMID: 31924506
Source: Self-asserted source
Eduardo Pérez-Palma
grade
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SCN1A variants from bench to bedside—improved clinical prediction from functional characterization

Human Mutation
2019-11-28 | Journal article
DOI: 10.1002/humu.23943
Part of ISSN: 1059-7794
Part of ISSN: 1098-1004
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

Nucleic Acids Research
2019-07-02 | Journal article
DOI: 10.1093/nar/gkz411
Contributors: Eduardo Pérez-Palma; Marie Gramm; Peter Nürnberg; Patrick May; Dennis Lal
Source: check_circle
Crossref
grade
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Identification of pathogenic variant enriched regions across genes and gene families

2019-05-17 | Other
DOI: 10.1101/641043
Contributors: Eduardo Pérez-Palma; Patrick May; Sumaiya Iqbal; Lisa-Marie Niestroj; Juanjiangmeng Du; Henrike Heyne; Jessica Castrillon; Anne O’Donnell-Luria; Peter Nürnberg; Aarno Palotie et al.
Source: check_circle
Crossref

Variant Score Ranker-a web application for intuitive missense variant prioritization.

Bioinformatics (Oxford, England)
2019-04-25 | Journal article
DOI: 10.1093/bioinformatics/btz252
PMID: 31086968
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

New England Journal of Medicine
2019-04-18 | Journal article
DOI: 10.1056/nejmc1805100
Part of ISSN: 0028-4793
Part of ISSN: 1533-4406
Source: Self-asserted source
Eduardo Pérez-Palma

Spectrum of GABAA receptor variants in epilepsy.

Current opinion in neurology
2019-04-01 | Journal article
DOI: 10.1097/wco.0000000000000657
PMID: 30664068
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.

Scientific reports
2019-02-14 | Journal article
DOI: 10.1038/s41598-019-39391-z
PMID: 30765821
PMC: PMC6376018
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry.

Scientific reports
2019-01-28 | Journal article
DOI: 10.1038/s41598-018-35852-z
PMID: 30692554
PMC: PMC6349870
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Epilepsia
2019-01-25 | Journal article
DOI: 10.1111/epi.14653
PMID: 30682224
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Duplications at 19q13.33 in patients with neurodevelopmental disorders.

Neurology. Genetics
2018-01-26 | Journal article
DOI: 10.1212/NXG.0000000000000210
PMID: 29473046
PMC: PMC5820601
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies.

Journal of medical genetics
2017-07-29 | Journal article
DOI: 10.1136/jmedgenet-2016-104495
PMID: 28756411
PMC: PMC5574393
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎

Early Transcriptional Changes Induced by Wnt/β-Catenin Signaling in Hippocampal Neurons.

Neural plasticity
2016-12-27 | Journal article
DOI: 10.1155/2016/4672841
PMID: 28116168
PMC: PMC5223035
Source: Self-asserted source
Eduardo Pérez-Palma
grade
Preferred source (of 2)‎
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