Elena Maestrini
Overview
Explore the profile of Elena Maestrini including associated specialties, affiliations and a list of published articles.
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Articles
45
Citations
6024
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0
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Recent Articles
1.
Rots D, Choufani S, Faundes V, Dingemans A, Joss S, Foulds N, et al.
Am J Hum Genet
. 2024 Jul;
111(8):1626-1642.
PMID: 39013459
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of neurodevelopmental disorder (NDD), so the clinical and molecular spectrums...
2.
Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, et al.
NPJ Genom Med
. 2024 Mar;
9(1):21.
PMID: 38519481
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequencing (WGS...
3.
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, et al.
Res Sq
. 2023 Nov;
PMID: 37961520
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We have performed whole genome and/or exome sequencing...
4.
Winsvold B, Harder A, Ran C, Chalmer M, Dalmasso M, Ferkingstad E, et al.
Ann Neurol
. 2023 Jul;
94(4):713-726.
PMID: 37486023
Objective: The objective of this study was to aggregate data for the first genomewide association study meta-analysis of cluster headache, to identify genetic risk variants, and gain biological insights. Methods:...
5.
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, et al.
Front Genet
. 2022 Nov;
13:953762.
PMID: 36419830
Autism spectrum disorder (ASD) is a clinically heterogeneous class of neurodevelopmental conditions with a strong, albeit complex, genetic basis. The genetic architecture of ASD includes different genetic models, from monogenic...
6.
Viggiano M, DAndrea T, Cameli C, Posar A, Visconti P, Scaduto M, et al.
Front Psychiatry
. 2022 Mar;
13:858238.
PMID: 35350424
Autism Spectrum Disorder (ASD) is a highly heterogeneous neuropsychiatric disorder with a strong genetic component. The genetic architecture is complex, consisting of a combination of common low-risk and more penetrant...
7.
Cameli C, Viggiano M, Rochat M, Maresca A, Caporali L, Fiorini C, et al.
J Cell Mol Med
. 2021 Jan;
25(5):2459-2470.
PMID: 33476483
Autism spectrum disorder (ASD) is characterized by a complex polygenic background, but with the unique feature of a subset of cases (~15%-30%) presenting a rare large-effect variant. However, clinical interpretation...
8.
Rochat M, Distefano G, Maffei M, Toni F, Posar A, Scaduto M, et al.
Brain Sci
. 2020 Oct;
10(10).
PMID: 33081247
We examined the potential benefits of neuroimaging measurements across the first 5 years of life in detecting early comorbid or etiological signs of autism spectrum disorder (ASD). In particular, we...
9.
Lin B, Colas F, Nijman I, Medic J, Brands W, Parr J, et al.
Transl Psychiatry
. 2020 Jun;
10(1):204.
PMID: 32572023
The identification of genetic variants underlying autism spectrum disorders (ASDs) may contribute to a better understanding of their underlying biology. To examine the possible role of a specific type of...
10.
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, et al.
Sci Rep
. 2020 Feb;
10(1):3198.
PMID: 32081867
Autism spectrum disorder (ASD) is a neurodevelopmental condition with a complex and heterogeneous genetic etiology. While a proportion of ASD risk is attributable to common variants, rare copy-number variants (CNVs)...