Giovanna Pellecchia
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Explore the profile of Giovanna Pellecchia including associated specialties, affiliations and a list of published articles.
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3454
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Recent Articles
1.
Khateeb J, Liang J, Li Y, Thanabalasingam T, Khang J, Jerkic M, et al.
Commun Biol
. 2025 Feb;
8(1):164.
PMID: 39900972
Human induced pluripotent stem cell (iPSC)-derived lung organoids, engineered to carry targeted genes, offer a robust platform for investigating mechanistic insights in lung research. Although lentiviral vectors (LVVs) are highly...
2.
Mendes M, Chen D, Engchuan W, Leal T, Thiruvahindrapuram B, Trost B, et al.
Am J Hum Genet
. 2024 Dec;
112(1):135-153.
PMID: 39706197
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such...
3.
Mendes M, Chen D, Engchuan W, Leal T, Thiruvahindrapuram B, Trost B, et al.
medRxiv
. 2024 Aug;
PMID: 39108515
Autism Spectrum Disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such...
4.
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...
5.
Mitina A, Khan M, Lesurf R, Yin Y, Engchuan W, Hamdan O, et al.
EBioMedicine
. 2024 Feb;
101:105027.
PMID: 38418263
Background: Cardiomyopathy is a clinically and genetically heterogeneous heart condition that can lead to heart failure and sudden cardiac death in childhood. While it has a strong genetic basis, the...
6.
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...
7.
Faheem M, Deneault E, Alexandrova R, Rodrigues D, Pellecchia G, Shum C, et al.
BMC Med Genomics
. 2023 Jan;
16(1):5.
PMID: 36635662
Background: The X-linked PTCHD1 locus is strongly associated with autism spectrum disorder (ASD). Males who carry chromosome microdeletions of PTCHD1 antisense long non-coding RNA (PTCHD1-AS)/DEAD-box helicase 53 (DDX53) have ASD,...
8.
Wen J, Trost B, Engchuan W, Halvorsen M, Pallotto L, Mitina A, et al.
Mol Psychiatry
. 2022 Nov;
28(1):475-482.
PMID: 36380236
Tandem repeat expansions (TREs) are associated with over 60 monogenic disorders and have recently been implicated in complex disorders such as cancer and autism spectrum disorder. The role of TREs...
9.
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...
10.
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...