Sergio L Pereira
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Explore the profile of Sergio L Pereira including associated specialties, affiliations and a list of published articles.
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28
Citations
1118
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Recent Articles
1.
Fehlings D, Zarrei M, Engchuan W, Sondheimer N, Thiruvahindrapuram B, MacDonald J, et al.
Nat Genet
. 2024 Mar;
56(4):585-594.
PMID: 38553553
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and...
2.
Costa C, da Silva Campos G, da Silva Montenegro E, Wang J, Scliar M, Monfardini F, et al.
Eur J Hum Genet
. 2023 Jun;
31(9):1017-1022.
PMID: 37280359
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...
3.
Trost B, Thiruvahindrapuram B, Chan A, Engchuan W, Higginbotham E, Howe J, et al.
Cell
. 2022 Nov;
185(23):4409-4427.e18.
PMID: 36368308
Fully understanding autism spectrum disorder (ASD) genetics requires whole-genome sequencing (WGS). We present the latest release of the Autism Speaks MSSNG resource, which includes WGS data from 5,100 individuals with...
4.
Jegathisawaran J, Tsiplova K, Hayeems R, Marshall C, Stavropoulos D, Pereira S, et al.
Genet Med
. 2022 Feb;
24(5):1027-1036.
PMID: 35219592
Purpose: Genome sequencing (GS) can aid clinical management of multiple pediatric conditions. Insurers require accurate cost information to inform funding and implementation decisions. The objective was to compare the laboratory...
5.
Crowe T, Bowie R, Bloomer P, Mandiwana T, Hedderson T, Randi E, et al.
Cladistics
. 2021 Dec;
22(6):495-532.
PMID: 34892896
The phylogenetic relationships, biogeography and classification of, and 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...
6.
Benoit S, Xu H, Schmid S, Alexandrova R, Kaur G, Thiruvahindrapuram B, et al.
Neurobiol Dis
. 2020 Apr;
140:104872.
PMID: 32302674
Altered gene expression related to Parkinson's Disease (PD) has not been described in the living brain, yet this information may support novel discovery pertinent to disease pathophysiology and treatment. This...
7.
Reuter M, Chaturvedi R, Liston E, Manshaei R, Aul R, Bowdin S, et al.
Genet Med
. 2020 Feb;
22(6):1015-1024.
PMID: 32037394
Purpose: This study investigated the diagnostic utility of nontargeted genomic testing in patients with pediatric heart disease. Methods: We analyzed genome sequencing data of 111 families with cardiac lesions for...
8.
Eckford P, McCormack J, Munsie L, He G, Stanojevic S, Pereira S, et al.
J Cyst Fibros
. 2018 Apr;
18(1):35-43.
PMID: 29685812
Background: Therapies targeting certain CFTR mutants have been approved, yet variations in clinical response highlight the need for in-vitro and genetic tools that predict patient-specific clinical outcomes. Toward this goal,...
9.
Reuter M, Walker S, Thiruvahindrapuram B, Whitney J, Cohn I, Sondheimer N, et al.
CMAJ
. 2018 Feb;
190(5):E126-E136.
PMID: 29431110
Background: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment...
10.
Trost B, Walker S, Wang Z, Thiruvahindrapuram B, MacDonald J, Sung W, et al.
Am J Hum Genet
. 2018 Jan;
102(1):142-155.
PMID: 29304372
A remaining hurdle to whole-genome sequencing (WGS) becoming a first-tier genetic test has been accurate detection of copy-number variations (CNVs). Here, we used several datasets to empirically develop a detailed...