Eduardo Pérez-Palma
Andrés Bello National University
Publications 26
#1Andreas Brunklaus (Glas.: University of Glasgow)H-Index: 10
#2Stephanie Schorge (UCL: University College London)H-Index: 22
Last.Sameer M. Zuberi (Glas.: University of Glasgow)H-Index: 37
view all 12 authors...
#1Bernabé I. Bustos (Andrés Bello National University)H-Index: 3
#2Eduardo Pérez-Palma (Andrés Bello National University)H-Index: 5
Last.Juan Francisco Miquel P (UC: Pontifical Catholic University of Chile)H-Index: 33
view all 26 authors...
Latin Americans and Chilean Amerindians have the highest prevalence of gallstone disease (GSD) and gallbladder cancer (GBC) in the world. A handful of loci have been associated with GSD in populations of predominantly European ancestry, however, they only explain a small portion of the genetic component of the disease. Here, we performed a genome-wide association study (GWAS) for GSD in 1,095 admixed Chilean Latinos with Mapuche Native American ancestry. Disease status was assessed by cholecyste...
2 CitationsSource
#1Elena A. Vidal (Universidad Mayor)H-Index: 13
#2Tomás C. Moyano (UC: Pontifical Catholic University of Chile)H-Index: 7
Last.Rodrigo A. Gutiérrez (UC: Pontifical Catholic University of Chile)H-Index: 37
view all 31 authors...
Whole human genome sequencing initiatives help us understand population history and the basis of genetic diseases. Current data mostly focuses on Old World populations, and the information of the genomic structure of Native Americans, especially those from the Southern Cone is scant. Here we present annotation and variant discovery from high-quality complete genome sequences of a cohort of 11 Mapuche-Huilliche individuals (HUI) from Southern Chile. We found approximately 3.1 × 106 single nucleot...
1 CitationsSource
#1Lisa-Marie Niestroj (University of Cologne)H-Index: 2
#2Patrick May (University of Luxembourg)H-Index: 27
Last.Dennis LalH-Index: 15
view all 17 authors...
It is challenging to estimate genetic variant burden across different subtypes of epilepsy. Herein, we used a comparative approach to assess the genetic variant burden and genotype–phenotype correlations in four most common brain lesions in patients with drug-resistant focal epilepsy. Targeted sequencing analysis was performed for a panel of 161 genes with a mean coverage of >400×. Lesional tissue was histopathologically reviewed and dissected from hippocampal sclerosis (n = 15), ganglioglioma (...
#1Juanjiangmeng Du (University of Cologne)H-Index: 2
#2Monica Sudarsanam (University of Cologne)
Last.Dennis LalH-Index: 15
view all 15 authors...
#1Sumaiya Iqbal (Broad Institute)H-Index: 1
#2Jakob Berg Jespersen (DTU: Technical University of Denmark)H-Index: 3
Last.Dennis LalH-Index: 15
view all 16 authors...
Inference of the structural and functional consequences of amino acid-altering missense variants is challenging and not yet scalable. Clinical and research applications of the colossal number of identified missense variants is thus limited. Here we describe the aggregation and analysis of large-scale genomic variation and structural biology data for 1,330 disease-associated genes. Comparing the burden of 40 structural, physicochemical, and functional protein features of altered amino acids with ...
#1Eduardo Pérez-Palma (University of Cologne)H-Index: 5
#2Marie Gramm (University of Cologne)H-Index: 2
Last.Dennis LalH-Index: 15
view all 5 authors...
#1Lisa-Marie Niestroj (University of Cologne)H-Index: 2
#2Daniel P. Howrigan (Broad Institute)H-Index: 18
view all 10 authors...
Rare and large copy number variants (CNVs) around known genomic hotspots are strongly implicated in epilepsy etiology. But it remains unclear whether the observed associations are specific to an epilepsy phenotype, and if additional risk signal can be found outside hotspots. Here, we present the largest CNV burden and first CNV breakpoint level association analysis in epilepsy to date with 11,246 European epilepsy cases and 7,318 ancestry-matched controls. We studied five epilepsy phenotypes: ge...
#1Eduardo Pérez-Palma (Cleveland Clinic)H-Index: 5
#2Patrick MayH-Index: 27
Last.Dennis Lal (Cleveland Clinic)H-Index: 5
view all 12 authors...
Missense variant interpretation is challenging. Essential regions for protein function are conserved among gene family members, and genetic variants within these regions are potentially more likely to confer risk to disease. Here, we generated 2,871 gene family protein sequence alignments involving 9,990 genes and performed missense variant burden analyses to identify novel essential protein regions. We mapped 2,219,811 variants from the general population into these alignments and compared thei...
2 CitationsSource
#1Snezana Maljevic (University of Melbourne)H-Index: 1
#2Rikke S. MøllerH-Index: 36
Last.Holger Lerche (University of Tübingen)H-Index: 14
view all 7 authors...
Purpose of reviewRecent publications point to an increasingly important role of variants in genes encoding GABAA receptor subunits associated with both common and rare forms of epilepsies. The aim of this review is to give an overview of the current clinical phenotypes, genetic findings and pathophy
6 CitationsSource