Lista de obras - Gianpiero L. Cavalleri - Dominio Público Uruguay

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

article

A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose

article

A cross-sectional MRI study of brain regional atrophy and clinical characteristics of temporal lobe epilepsy with hippocampal sclerosis

artículo científico publicado en 2011

A genome-wide association study of recipient genotype and medium-term kidney allograft function

artículo científico publicado en 2013

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

artículo científico publicado en 2019

A pharmacogenetic exploration of vigabatrin-induced visual field constriction

article

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

Ancient genomes from Iceland reveal the making of a human population

artículo científico publicado en 2018

Association of CYP3A variants with kidney transplant outcomes

artículo científico publicado en 2015

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

artículo científico publicado en 2019

Asymmetric cortical surface area and morphology changes in mesial temporal lobe epilepsy with hippocampal sclerosis

artículo científico publicado en 2012

Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.

artículo científico publicado en 2018

Bayesian meta-analysis of genetic association studies with different sets of markers

scientific article published on April 2008

Clinical manifestations of prune belly syndrome

scientific article published on 01 June 2016

Common genetic variants influence human subcortical brain structures

artículo científico publicado en 2015

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

scientific article published on 04 July 2019

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

artículo científico

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

artículo científico publicado en 2020

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

scientific article published on 31 January 2019

Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care

artículo científico publicado en 2019

Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms

artículo científico publicado en 2002

Distinct HLA associations of LGI1 and CASPR2-antibody diseases.

artículo científico publicado en 2018

Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review

artículo científico publicado en 2006

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

artículo científico publicado en 2013

Erratum to: Genomics-Guided Precise Anti-Epileptic Drug Development

artículo científico publicado en 2017

Evaluating the causal relevance of diverse risk markers: horizontal systematic review

artículo científico publicado en 2009

Evolutionary history of Tibetans inferred from whole-genome sequencing.

artículo científico publicado en 2017

Exacerbation, then clearance, of mutation-proven Darier's disease of the skin after radiotherapy for bronchial carcinoma: a case of radiation-induced epidermal differentiation?

artículo científico publicado en 2001

Examining the role of common genetic variation in the γ2 subunit of the GABAA receptor in epilepsy using tagging SNPs

artículo científico publicado en 2006

Excavating Y-chromosome haplotype strata in Anatolia

artículo científico publicado en 2004

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

artículo científico publicado en 2012

Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?

artículo científico publicado en 2005

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

scholarly article published 28 August 2017

Genetic architecture of subcortical brain structures in 38,851 individuals

scientific article published on 21 October 2019

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

artículo científico publicado en 2005

Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations ⬇️

artículo científico publicado en 2013

Genetic structure in the Sherpa and neighboring Nepalese populations

artículo científico publicado en 2017

Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness

artículo científico publicado en 2014

Genome-scale methods converge on key mitochondrial genes for the survival of human cardiomyocytes in hypoxia

artículo científico publicado en 2014

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

artículo científico publicado en 2015

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

artículo científico publicado en 2012

Genomic and clinical predictors of lacosamide response in refractory epilepsies

artículo científico publicado en 2019

Genomic insights into the origin of farming in the ancient Near East

artículo científico publicado en 2016

Genomic insights into the population structure and history of the Irish Travellers

artículo científico publicado en 2017

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

artículo científico publicado en 2011

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

artículo científico publicado en 2011

Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.

artículo científico publicado en 2013

Identification of common variants associated with human hippocampal and intracranial volumes

artículo científico publicado en 2012

Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene

artículo científico publicado en 2004

Large-scale recent expansion of European patrilineages shown by population resequencing

artículo científico publicado en 2015

Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study

artículo científico publicado en 2018

MRI-based brain structure volumes in temporal lobe epilepsy patients and their unaffected siblings: a preliminary study.

artículo científico publicado en 2012

Mapping Cortical Brain Asymmetry in 17,141 Healthy Individuals Worldwide via the ENIGMA Consortium

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

artículo científico publicado en 2007

Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders

artículo científico publicado en 2010

Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

artículo científico publicado en 2020

No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.

artículo científico publicado en 2008

Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

scientific article published on 26 December 2018

Novel genetic loci associated with hippocampal volume

scientific article published on 18 January 2017

Novel genetic loci underlying human intracranial volume identified through genome-wide association

artículo científico publicado en 2016

Opportunities and challenges for genome sequencing in the clinic

artículo científico publicado en 2012

Personalized medicine and human genetic diversity

artículo científico publicado en 2014

Pharmacogenomics and epilepsy: the road ahead

artículo científico

Polygenic burden in focal and generalized epilepsies

artículo científico publicado en 2019

Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort

artículo científico publicado en 2018

Population structure and genome-wide patterns of variation in Ireland and Britain

artículo científico publicado en 2010

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

artículo científico publicado en 2010

Role of SOX2 mutations in human hippocampal malformations and epilepsy

artículo científico publicado en 2006

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

artículo científico publicado en 2018

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

scientific journal article

Tackling Epilepsy With High-definition Precision Medicine: A Review

artículo científico publicado en 2019

Temporal Cortex Morphology in Mesial Temporal Lobe Epilepsy Patients and Their Asymptomatic Siblings.

artículo científico publicado en 2015

Testing association of rare genetic variants with resistance to three common antiseizure medications

artículo científico publicado en 2020

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

artículo científico publicado en 2014

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

artículo científico publicado en 2017

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

artículo científico publicado en 2014

The controversial association of ABCB1 polymorphisms in refractory epilepsy: An analysis of multiple SNPs in an Irish population

article

The genetic architecture of the human cerebral cortex

artículo científico publicado en 2020

The genetic determinants of renal allograft rejection

artículo científico publicado en 2018

The impact of ERBB-family germline single nucleotide polymorphisms on survival response to adjuvant trastuzumab treatment in HER2-positive breast cancer

artículo científico publicado en 2016

The impact of donor and recipient common clinical and genetic variation on estimated glomerular filtration rate in a European renal transplant population

artículo científico publicado en 2019

Tibetans living at sea level have a hyporesponsive hypoxia-inducible factor system and blunted physiological responses to hypoxia

artículo científico publicado en 2013

Two Further Blood Pressure Loci Identified in Ion Channel Genes With a Genecentric Approach

article

Understanding human diversity

artículo científico publicado en 2005

Vigabatrin retinopathy in an Irish cohort: lack of correlation with dose.

artículo científico publicado en 2006

Weight change, genetics and antiepileptic drugs

artículo científico

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

artículo científico publicado en 2020

White matter alterations in patients with MRI-negative temporal lobe epilepsy and their asymptomatic siblings.

artículo científico publicado en 2015

Whole exome sequencing studies in epilepsy: A deep analysis of the published literature

artículo científico publicado en 2022

Lista de obras de Gianpiero L. Cavalleri

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose

A cross-sectional MRI study of brain regional atrophy and clinical characteristics of temporal lobe epilepsy with hippocampal sclerosis

A genome-wide association study of recipient genotype and medium-term kidney allograft function

A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

A pharmacogenetic exploration of vigabatrin-induced visual field constriction

An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases

Ancient genomes from Iceland reveal the making of a human population

Association of CYP3A variants with kidney transplant outcomes

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition

Asymmetric cortical surface area and morphology changes in mesial temporal lobe epilepsy with hippocampal sclerosis

Author Correction: The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland.

Bayesian meta-analysis of genetic association studies with different sets of markers

Clinical manifestations of prune belly syndrome

Common genetic variants influence human subcortical brain structures

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

Comparative effectiveness of antiepileptic drugs in juvenile myoclonic epilepsy

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

Correction: Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years

Development of a genomics module within an epilepsy-specific electronic health record: Toward genomic medicine in epilepsy care

Different genetic components in the Norwegian population revealed by the analysis of mtDNA and Y chromosome polymorphisms

Distinct HLA associations of LGI1 and CASPR2-antibody diseases.

Endothelial nitric oxide synthase gene polymorphisms and cardiovascular disease: a HuGE review

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Erratum to: Genomics-Guided Precise Anti-Epileptic Drug Development

Evaluating the causal relevance of diverse risk markers: horizontal systematic review

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Exacerbation, then clearance, of mutation-proven Darier's disease of the skin after radiotherapy for bronchial carcinoma: a case of radiation-induced epidermal differentiation?

Examining the role of common genetic variation in the γ2 subunit of the GABAA receptor in epilepsy using tagging SNPs

Excavating Y-chromosome haplotype strata in Anatolia

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?

Genetic Architecture of Subcortical Brain Structures in Over 40,000 Individuals Worldwide

Genetic architecture of subcortical brain structures in 38,851 individuals

Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin

Genetic signatures reveal high-altitude adaptation in a set of ethiopian populations ⬇️

Genetic structure in the Sherpa and neighboring Nepalese populations

Genetic variation in SENP1 and ANP32D as predictors of chronic mountain sickness

Genome-scale methods converge on key mitochondrial genes for the survival of human cardiomyocytes in hypoxia

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Genome-wide mapping for clinically relevant predictors of lamotrigine- and phenytoin-induced hypersensitivity reactions

Genomic and clinical predictors of lacosamide response in refractory epilepsies

Genomic insights into the origin of farming in the ancient Near East

Genomic insights into the population structure and history of the Irish Travellers

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery

HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

Heritability of subcortical volumetric traits in mesial temporal lobe epilepsy.

Identification of common variants associated with human hippocampal and intracranial volumes

Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene

Large-scale recent expansion of European patrilineages shown by population resequencing

Long- and short-term outcomes in renal allografts with deceased donors: A large recipient and donor genome-wide association study

MRI-based brain structure volumes in temporal lobe epilepsy patients and their unaffected siblings: a preliminary study.

Mapping Cortical Brain Asymmetry in 17,141 Healthy Individuals Worldwide via the ENIGMA Consortium

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study

Natural selection on EPAS1 (HIF2alpha) associated with low hemoglobin concentration in Tibetan highlanders

Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

No major role of common SV2A variation for predisposition or levetiracetam response in epilepsy.

Normal cerebral cortical thickness in first-degree relatives of temporal lobe epilepsy patients

Novel genetic loci associated with hippocampal volume

Novel genetic loci underlying human intracranial volume identified through genome-wide association

Opportunities and challenges for genome sequencing in the clinic

Personalized medicine and human genetic diversity

Pharmacogenomics and epilepsy: the road ahead

Polygenic burden in focal and generalized epilepsies

Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort

Population structure and genome-wide patterns of variation in Ireland and Britain

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

Role of SOX2 mutations in human hippocampal malformations and epilepsy

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

TDP2 protects transcription from abortive topoisomerase activity and is required for normal neural function

Tackling Epilepsy With High-definition Precision Medicine: A Review

Temporal Cortex Morphology in Mesial Temporal Lobe Epilepsy Patients and Their Asymptomatic Siblings.

Testing association of rare genetic variants with resistance to three common antiseizure medications

The ENIGMA Consortium: large-scale collaborative analyses of neuroimaging and genetic data

The Irish DNA Atlas: Revealing Fine-Scale Population Structure and History within Ireland

The Y-chromosome tree bursts into leaf: 13,000 high-confidence SNPs covering the majority of known clades.

The controversial association of ABCB1 polymorphisms in refractory epilepsy: An analysis of multiple SNPs in an Irish population