List of works by Sergio L Pereira

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data

scientific article published in January 2018

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

scientific article published on 10 July 2017

A microcosting and cost-consequence analysis of clinical genomic testing strategies in autism spectrum disorder

scientific article

A mitogenomic timescale for birds detects variable phylogenetic rates of molecular evolution and refutes the standard molecular clock

scientific article

A molecular timescale for galliform birds accounting for uncertainty in time estimates and heterogeneity of rates of DNA substitutions across lineages and sites

scientific article

Adult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype

scientific article

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.

scientific article

DNA evidence for a Paleocene origin of the Alcidae (Aves: Charadriiformes) in the Pacific and multiple dispersals across northern oceans

scientific article

De Novo Genome and Transcriptome Assembly of the Canadian Beaver (Castor canadensis)

scientific article

Epigenomic alterations define lethal CIMP-positive ependymomas of infancy

scientific article

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

scientific article published on 13 November 2013

Low number of mitochondrial pseudogenes in the chicken (Gallus gallus) nuclear genome: implications for molecular inference of population history and phylogenetics

scientific article

Mitochondrial and nuclear DNA sequences support a Cretaceous origin of Columbiformes and a dispersal-driven radiation in the Paleocene

scientific article (publication date: August 2007)

Molecular phylogenetics and biogeography of Neotropical piping guans (Aves: Galliformes): Pipile Bonaparte, 1856 is synonym of Aburria Reichenbach, 1853.

scientific article published on 25 January 2005

Multiple gene evidence for expansion of extant penguins out of Antarctica due to global cooling

scientific article

Phylogenetic relationships and divergence times of Charadriiformes genera: multigene evidence for the Cretaceous origin of at least 14 clades of shorebirds

scientific article

Phylogenetic relationships and historical biogeography of neotropical parrots (Psittaciformes: Psittacidae: Arini) inferred from mitochondrial and nuclear DNA sequences

scientific article

Phylogenetics, biogeography and classification of, and character evolution in, gamebirds (Aves: Galliformes): effects of character exclusion, data partitioning and missing data

scholarly article by Timothy M. Crowe et al published December 2006 in Cladistics

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

scientific article

The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

scientific article published in February 2018

The enigmatic monotypic crab plover Dromas ardeola is closely related to pratincoles and coursers (Aves, Charadriiformes, Glareolidae).

scientific article

The genetic diversity of Epstein-Barr virus in the setting of transplantation relative to non-transplant settings: A feasibility study.

scientific article published on 18 November 2015

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome

scientific article

Paulina is supported by:

About Paulina

Help