Maria Rita Passos‐Bueno
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020/01/23 by F. Kyle Satterstrom, Jack A. Kosmicki, Jiebiao Wang +97 · 42 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Congenital heart defects research #Genetics and Neurodevelopmental Disorders
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022/08/18 by Jack M. Fu, Jack Fu, F. Kyle Satterstrom +136 · 13 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Autism Spectrum Disorder Research #Congenital heart defects research #Genomic variations and chromosomal abnormalities
- Exomic variants of an elderly cohort of Brazilians in the ABraOM database
2017/03/24 by Michel Satya Naslavsky, Guilherme Lopes Yamamoto, Tatiana Ferreira Almeida +15 · 3 citations
Biochemistry, Genetics and Molecular Biology · #Cancer Genomics and Diagnostics #Genetic Associations and Epidemiology #Genomics and Rare Diseases
- Familial spongiform encephalopathy associated with a novel prion protein gene mutation
1997/08/01 by Ricardo Nitríni, Sérgio Rosemberg, Maria Rita Passos‐Bueno +8 · 2 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · Nursing · #Prion Diseases and Protein Misfolding #Neurological diseases and metabolism #Trace Elements in Health
- Whole-genome sequencing of 1,171 elderly admixed individuals from Brazil
2022/03/04 by Michel Satya Naslavsky, Marília O. Scliar, Guilherme Lopes Yamamoto +39 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Genomics and Rare Diseases #Genomic variations and chromosomal abnormalities #Cancer Genomics and Diagnostics #Imputation (statistics) #Genetics #Biology #Whole genome sequencing #1000 Genomes Project #Genomics #Genome #Reference genome #Genome-wide association study #Mendelian inheritance #Population #DNA sequencing #Computational biology #Gene #Single-nucleotide polymorphism #Medicine #Computer science #Genotype #Missing data