Dimitri J Stavropoulos
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Explore the profile of Dimitri J Stavropoulos including associated specialties, affiliations and a list of published articles.
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73
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3751
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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.
Woodbury-Smith M, DAbate L, Stavropoulos D, Howe J, Drmic I, Hoang N, et al.
J Med Genet
. 2023 Jun;
60(12):1153-1160.
PMID: 37290907
Background: We present genomic and phenotypic findings of a transgenerational family consisting of three male offspring, each with a maternally inherited distal 220 kb deletion at locus 16p11.2 (BP2-BP3). Genomic...
3.
Zarrei M, Burton C, Engchuan W, Higginbotham E, Wei J, Shaikh S, et al.
Hum Mol Genet
. 2023 May;
32(15):2411-2421.
PMID: 37154571
We assessed the relationship of gene copy number variation (CNV) in mental health/neurodevelopmental traits and diagnoses, physical health and cognition in a community sample of 7100 unrelated children and youth...
4.
Chan A, Engchuan W, Reuter M, Wang Z, Thiruvahindrapuram B, Trost B, et al.
Nat Commun
. 2022 Oct;
13(1):6463.
PMID: 36309498
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorize 325 Canadian children with...
5.
Drmic I, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, et al.
Am J Med Genet A
. 2022 Jul;
188(10):2999-3008.
PMID: 35899837
Microduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in clinical populations undergoing chromosomal microarray, and at lower frequency in controls. Often...
6.
Hayeems R, Marshall C, Gillespie M, Szuto A, Chisholm C, Stavropoulos D, et al.
CMAJ Open
. 2022 May;
10(2):E460-E465.
PMID: 35609929
Background: Genome-wide sequencing has emerged as a promising strategy for the timely diagnosis of rare diseases, but it is not yet available as a clinical test performed in Canadian diagnostic...
7.
Vincent K, Stavropoulos D, Beaulieu-Bergeron M, Yang C, Jiang M, Zuijdwijk C, et al.
Am J Med Genet A
. 2022 May;
188(8):2421-2428.
PMID: 35593535
Maternal uniparental disomy of human chromosome 7 [upd(7)mat] is well-characterized as a cause of the growth disorder Silver-Russell syndrome (SRS). However, the causative gene is not currently known. There is...
8.
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...
9.
Lazier J, Hartley T, Brock J, Caluseriu O, Chitayat D, Laberge A, et al.
J Med Genet
. 2021 Sep;
59(10):931-937.
PMID: 34544840
Purpose And Scope: The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing...
10.
Brownstein C, Smith R, Rodan L, Gorman M, Hojlo M, Garvey E, et al.
Mol Psychiatry
. 2021 Feb;
26(5):1706-1718.
PMID: 33597717
Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old...