Lista de obras - Elena Maestrini - Dominio Público Uruguay

A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants

artículo científico publicado en 2016

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder

scientific article published on 21 January 2021

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray

scientific article published on 21 February 2020

Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies as a Functionally Relevant Candidate Gene

article

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility ⬇️

artículo científico publicado en 2022

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability

artículo científico publicado en 2010

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

artículo científico publicado en 2012

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment