Manuel Belmadani
Overview
Explore the profile of Manuel Belmadani including associated specialties, affiliations and a list of published articles.
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Articles
8
Citations
260
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0
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Recent Articles
1.
Lim N, Tesar S, Belmadani M, Poirier-Morency G, Mancarci B, Sicherman J, et al.
Database (Oxford)
. 2021 Feb;
2021.
PMID: 33599246
Vast amounts of transcriptomic data reside in public repositories, but effective reuse remains challenging. Issues include unstructured dataset metadata, inconsistent data processing and quality control, and inconsistent probe-gene mappings across...
2.
Post K, Belmadani M, Ganguly P, Meili F, Dingwall R, McDiarmid T, et al.
Nat Commun
. 2020 May;
11(1):2073.
PMID: 32350270
Functional variomics provides the foundation for personalized medicine by linking genetic variation to disease expression, outcome and treatment, yet its utility is dependent on appropriate assays to evaluate mutation impact...
3.
McDiarmid T, Belmadani M, Liang J, Meili F, Mathews E, Mullen G, et al.
Proc Natl Acad Sci U S A
. 2019 Nov;
117(1):656-667.
PMID: 31754030
A major challenge facing the genetics of autism spectrum disorders (ASDs) is the large and growing number of candidate risk genes and gene variants of unknown functional significance. Here, we...
4.
Belmadani M, Jacobson M, Holmes N, Phan M, Nguyen T, Pavlidis P, et al.
Autism Res
. 2019 Nov;
12(12):1728-1736.
PMID: 31705629
Recent years have seen a boom in the application of the next-generation sequencing technology to the study of human disorders, including Autism Spectrum Disorder (ASD), where the focus has been...
5.
Callaghan D, Rogic S, Tan P, Calli K, Qiao Y, Baldwin R, et al.
Clin Genet
. 2019 May;
96(3):199-206.
PMID: 31038196
Autism spectrum disorder (ASD) is a highly heterogeneous genetic disorder with strong evidence of ASD-association currently available only for a small number of genes. This makes it challenging to identify...
6.
Tripathy S, Toker L, Bomkamp C, Mancarci B, Belmadani M, Pavlidis P
Front Mol Neurosci
. 2018 Oct;
11:363.
PMID: 30349457
Patch-seq, combining patch-clamp electrophysiology with single-cell RNA-sequencing (scRNAseq), enables unprecedented access to a neuron's transcriptomic, electrophysiological, and morphological features. Here, we present a re-analysis of five patch-seq datasets, representing cells...
7.
Gruber A, Schmidt R, Gruber A, Martin G, Ghosh S, Belmadani M, et al.
Genome Res
. 2016 Jul;
26(8):1145-59.
PMID: 27382025
Alternative polyadenylation (APA) is a general mechanism of transcript diversification in mammals, which has been recently linked to proliferative states and cancer. Different 3' untranslated region (3' UTR) isoforms interact...
8.
Tan P, Rogic S, Zoubarev A, McDonald C, Lui F, Charathsandran G, et al.
Hum Mutat
. 2016 May;
37(8):719-26.
PMID: 27158917
Identifying variants causal for complex genetic disorders is challenging. With the advent of whole-exome and whole-genome sequencing, computational tools are needed to explore and analyze the list of variants for...