A5086002946- Genetic diversity and population structure
- Genomics and Phylogenetic Studies
- Evolution and Paleontology Studies
- Fish biology, ecology, and behavior
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Ichthyology and Marine Biology
- Identification and Quantification in Food
- Autism Spectrum Disorder Research
- Paleontology and Evolutionary Biology
- Genetics and Neurodevelopmental Disorders
- Chromosomal and Genetic Variations
- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Fish Biology and Ecology Studies
- Plant Diversity and Evolution
- Cancer-related molecular mechanisms research
- Congenital heart defects research
- Blood disorders and treatments
- Machine Learning in Bioinformatics
- Immunodeficiency and Autoimmune Disorders
- Chronic Lymphocytic Leukemia Research
- Avian ecology and behavior
- Genomics, phytochemicals, and oxidative stress
- Bird parasitology and diseases
SickKids Foundation
2013-2024
Hospital for Sick Children
2013-2024
Universidade de São Paulo
1996-2021
University of Toronto
2002-2020
University Health Network
2018
Royal Ontario Museum
2002-2010
Université Paris Cité
2010
Hôpital Robert-Debré
2007-2010
Délégation Paris 7
2010
Google (United States)
2008
Cardio-facio-cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of KRAS, BRAF, MEK1 MEK2 genes total 130 patients (40 with clinical diagnosis CFC, 20 without HRAS from French family support group, 70 NS PTPN11 or SOS1 mutations). BRAF were found 14/40 (35%) CFC 8/20 (40%) HRAS-negative CS. KRAS 1/40 (2.5%) 2/20...
Current understanding of the diversification birds is hindered by their incomplete fossil record and uncertainty in phylogenetic relationships rates molecular evolution. Here we performed first comprehensive analysis mitogenomic data 48 vertebrates, including 35 birds, to derive a Bayesian timescale for avian evolution estimate DNA Our approach used multiple time constraints scattered throughout tree accounts uncertainties constraints, branch lengths, heterogeneity We estimated that major...
Comparative study of character evolution in the shorebirds is presently limited because phylogenetic placement some enigmatic genera remains unclear. We therefore used Bayesian methods to obtain a well-supported phylogeny 90 recognized using 5 kb mitochondrial and nuclear sequences. The tree comprised three major clades: Lari (gulls, auks allies plus buttonquails) as sister Scolopaci (sandpipers, jacanas allies), turn Charadrii (plovers, oystercatchers previous molecular studies. Plovers...
The phylogenetic relationships, biogeography and classification of, morpho-behavioral (M/B) evolution in, gamebirds (Aves: Galliformes) are investigated. In-group taxa (rooted on representatives of the Anseriformes) include 158 species representing all suprageneric galliform 65 genera. characters 102 M/B attributes 4452 nucleic acid base pairs from mitochondrial cytochrome b (CYT B), NADH dehydrogenase subunit 2 (ND2), 12S ribosomal DNA (12S) control region (CR), nuclear ovomucoid intron G...
CBL missense mutations have recently been associated with juvenile myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic neoplasm of early childhood characterised by excessive macrophage/monocyte proliferation. CBL, E3 ubiquitin ligase a multi-adaptor protein, controls proliferative signalling networks downregulating the growth factor receptor cascades in various cell types.CBL were screened 65 patients JMML. A homozygous mutation was found leukaemic cells...
Abstract Roifman Syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia and antibody deficiency. Here we utilize whole-genome sequencing of patients to reveal compound heterozygous variants that disrupt highly conserved positions the RNU4ATAC small nuclear RNA gene, minor spliceosome component essential for intron splicing. Targeted confirms allele segregation in six cases from four unrelated families. have been recently...
PurposeThis study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease.MethodsWe analyzed genome sequencing data 111 families cardiac lesions for rare, disease-associated variation.ResultsIn 14 (12.6%), we identified causative variants: seven were de novo (ANKRD11, KMT2D, NR2F2, POGZ, PTPN11, PURA, SALL1) and six inherited from parents no or subclinical phenotypes (FLT4, DNAH9, MYH11, NEXMIF, NIPBL, PTPN11). Outcome was associated...
Classic problems in historical biogeography are where did penguins originate, and why such mobile birds restricted to the Southern Hemisphere? Competing hypotheses posit they arose tropical–warm temperate waters, species-diverse cool regions, or Gondwanaland ∼100 mya when it was further north. To test these we constructed a strongly supported phylogeny of extant from 5851 bp mitochondrial nuclear DNA. Using Bayesian inference ancestral areas show that an Antarctic origin taxa is highly...
Phylogenetic relationships among genera of pigeons and doves (Aves, Columbiformes) have not been fully resolved because limited sampling taxa characters in previous studies. We therefore sequenced multiple nuclear mitochondrial DNA genes totaling over 9000 bp from 33 41 plus 8 outgroup taxa, and, together with sequences 5 other pigeon retrieved GenBank, recovered a strong phylogenetic hypothesis for the Columbiformes. Three major clades were combined data set, comprising basally branching...
Previous hypotheses of phylogenetic relationships among Neotropical parrots were based on limited taxon sampling and lacked support for most internal nodes. In this study we increased the number taxa (29 species belonging to 25 30 genera) gene sequences (6388 base pairs RAG-1, cyt b, NADH2, ATPase 6, 8, COIII, 12S rDNA, 16S rDNA) obtain a stronger molecular hypothesis group birds. Analyses combined using maximum likelihood Bayesian methods resulted in well-supported phylogeny indicated that...
PurposeWhole-exome (WES) and whole-genome sequencing (WGS) increase the diagnostic yield in autism spectrum disorder (ASD) compared to chromosomal microarray (CMA), but there have been no comprehensive cost analyses. The objective was perform such an assessment of CMA, WES, WGS compare incremental per additional positive finding hypothetical testing scenarios.MethodsFive-year patient program costs were estimated from institutional perspective. WES estimates based on HiSeq 2500 with estimate...
<h3>BACKGROUND:</h3> The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. <h3>METHODS:</h3> Volunteers were screened for eligibility provided informed consent open sharing. Using blood DNA, we performed all possible classes DNA variants. A genetic counsellor explained implication results to each participant....
With the advent of DNA sequencing techniques organization vertebrate mitochondrial genome shows variation between higher taxonomic levels. The most conserved gene order is found in placental mammals, turtles, fishes, some lizards and Xenopus. Birds, other species lizards, crocodilians, marsupial snakes, tuatara, lamprey, amphibians one fish have orders that are less conserved. probable mechanism for new rearrangements seems to be tandem duplication multiple deletion events, always associated...
Mitochondrial DNA has been detected in the nuclear genome of eukaryotes as pseudogenes, or Numts. Human and plant genomes harbor a large number Numts, some which have high similarity to mitochondrial fragments thus may inadvertently included population genetic phylogenetic studies using DNA. Birds smaller relative mammals, genome-wide frequency distribution Numts is still unknown. The release preliminary version chicken (Gallus gallus) by Genome Sequencing Center at Washington University,...
The Cracidae is one of the most endangered and distinctive bird families in Neotropics, yet higher relationships among taxa remain uncertain. molecular phylogeny its 11 genera was inferred using 10,678 analyzable sites (5,412 from seven different mitochondrial segments 5,266 four nuclear genes). We performed combinability tests to check conflicts phylogenetic signals separate genes genomes. Phylogenetic analysis showed that unrooted tree ((curassows, horned guan) (guans, chachalacas))...