Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …
observed in the general population. We explored the genes disrupted by these variants from …
[HTML][HTML] Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
…, MO Scliar, GL Yamamoto, JYT Wang… - Nature …, 2022 - nature.com
As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …
population genomics and medical applications, data on diverse non-European and admixed …
[HTML][HTML] MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals
Despite the high number of individuals infected by severe acute respiratory syndrome
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …
coronavirus 2 (SARS-CoV-2) who develop coronavirus disease 2019 (COVID-19) symptoms …
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
…, M Smith, CIC Souza, S Trajkova, JYT Wang… - MedRxiv, 2021 - medrxiv.org
Individuals with autism spectrum disorder (ASD) or related neurodevelopmental disorders (NDDs)
often carry disruptive mutations in genes that are depleted of functional variation in …
often carry disruptive mutations in genes that are depleted of functional variation in …
[HTML][HTML] MUC22, HLA-A, and HLA-DOB variants and COVID-19 in resilient super-agers from Brazil
Background Although aging correlates with a worse prognosis for Covid-19, super elderly
still unvaccinated individuals presenting mild or no symptoms have been reported worldwide. …
still unvaccinated individuals presenting mild or no symptoms have been reported worldwide. …
[HTML][HTML] HLA-G genetic diversity and evolutive aspects in worldwide populations
HLA-G is a promiscuous immune checkpoint molecule. The HLA-G gene presents substantial
nucleotide variability in its regulatory regions. However, it encodes a limited number of …
nucleotide variability in its regulatory regions. However, it encodes a limited number of …
Whole-genome sequencing of 1,171 elderly admixed individuals from the largest Latin American metropolis (São Paulo, Brazil)
As whole-genome sequencing (WGS) becomes the gold standard tool for studying
population genomics and medical applications, data on diverse non-European and admixed …
population genomics and medical applications, data on diverse non-European and admixed …
Genomics, epigenomics and pharmacogenomics of familial hypercholesterolemia (FHBGEP): A study protocol
…, JNG de Araújo, MS Naslavsky, JYT Wang… - Research in social and …, 2021 - Elsevier
Background Familial hypercholesterolemia (FH) is a genetic disease that affects millions of
people worldwide. Objectives The study protocol FHBGEP was design to investigate the …
people worldwide. Objectives The study protocol FHBGEP was design to investigate the …
Copy number variations in a Brazilian cohort with autism spectrum disorders highlight the contribution of cell adhesion genes
…, IMW Silva, M de Oliveira Scliar, JYT Wang… - Clinical …, 2022 - Wiley Online Library
Prediction of pathogenicity of rare copy number variations (CNVs), a genomic alteration
known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious …
known to contribute to the etiology of autism spectrum disorder (ASD), represents a serious …
Three generation families: Analysis of de novo variants in autism
…, EM da Silva Montenegro, JYT Wang… - European Journal of …, 2023 - nature.com
De novo variants (DNVs) analysis has proven to be a powerful approach to gene discovery
in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD cohort. …
in Autism Spectrum Disorder (ASD), which has not yet been shown in a Brazilian ASD cohort. …