Eduardo Pérez‐Palma

Author

Eduardo Pérez‐Palma

Also Known As

Eduardo Perez Palma, Eduardo Perez-Palma, Eduardo Perez‐Palma, Eduardo Pérez-Palma, Eduardo Pérez‐Palma, Rikke S. Møller

Publications

2.5K

Citations

H-Index

Concepts

All Affiliations

University of Cologne Broad Institute Cleveland Clinic Cleveland Clinic Lerner College of Medicine Massachusetts General Hospital

About

Eduardo Pérez‐Palma is an author at University of Cologne specializing in medicine, genetics, and neurogenetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	10	525
2	Engineering	2	2	45
3	Public Health	2	2	166
4	Social Sciences	2	2	206
5	Natural Sciences	1	1	21

Eduardo Pérez‐Palma

Publications

1.4K

Citations

H-Index

Page 1

	Year	Citations
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants Javier A. López-Rivera, Eduardo Pérez‐Palma, Joseph D. Symonds, Brain NeurogenomicsGeneticsGenetic EpidemiologyDisease Gene IdentificationDisease Incidence	2020	147
The gain of function <i>SCN1A</i> disorder spectrum: novel epilepsy phenotypes and therapeutic implications Andreas Brunklaus, Tobias Brünger, Tony Feng, Brain Neurological DisorderScn1a Variants ClusterTherapeutic ImplicationsSynaptic SignalingEpilepsy	2022	137
Comprehensive characterization of amino acid positions in protein structures reveals molecular effect of missense variants Sumaiya Iqbal, Eduardo Pérez‐Palma, Jakob Berg Jespersen, Proceedings of the National Academy of Sciences	2020	121
Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry Bernabé I. Bustos, Eduardo Pérez‐Palma, Stephan Buch, Scientific Reports	2019	109
Identification of pathogenic variant enriched regions across genes and gene families Eduardo Pérez‐Palma, Patrick May, Sumaiya Iqbal, Genome Research	2019	79
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Brain	2020	75
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region McKenna Kelly, Meredith Park, Ivana Mihalek, Epilepsia	2019	72
Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database Eduardo Pérez‐Palma, Marie Gramm, Peter Nürnberg, Nucleic Acids Research	2019	72
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders Dennis Lal, Patrick May, Eduardo Pérez‐Palma, Genome Medicine	2020	70
Development and Validation of a Prediction Model for Early Diagnosis of <i>SCN1A</i> -Related Epilepsies Andreas Brunklaus, Eduardo Pérez‐Palma, Ismael Ghanty, Neurology	2022	70

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