Thomas Nalpathamkalam
Overview
Explore the profile of Thomas Nalpathamkalam including associated specialties, affiliations and a list of published articles.
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31
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2057
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Recent Articles
1.
Haque B, Cheerie D, Pan A, Curtis M, Nalpathamkalam T, Nguyen J, et al.
PLoS Genet
. 2025 Jan;
21(1):e1011540.
PMID: 39761285
Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that...
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.
Haque B, Cheerie D, Birkadze S, Xu A, Nalpathamkalam T, Thiruvahindrapuram B, et al.
Eur J Hum Genet
. 2023 Nov;
32(2):238-242.
PMID: 38012313
A recent report described a nonsense variant simultaneously creating a donor splice site, resulting in a truncated but functional protein. To explore the generalizability of this unique mechanism, we annotated...
7.
Clouthier S, Tomczyk M, Schroeder T, Klassen C, Dufresne A, Emmenegger E, et al.
Pathogens
. 2023 Sep;
12(9).
PMID: 37764923
Herpesvirus infections of sturgeon pose a potential threat to sturgeon culture efforts worldwide. A new epitheliotropic herpesvirus named Acipenser herpesvirus 3 (AciHV-3) was detected in hatchery-reared Lake Sturgeon displaying skin...
8.
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...
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...