Emanuela Avola
Overview
Explore the profile of Emanuela Avola including associated specialties, affiliations and a list of published articles.
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16
Citations
714
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Recent Articles
1.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
2.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
Am J Hum Genet
. 2023 Nov;
110(12):2015-2028.
PMID: 37979581
We examined more than 97,000 families from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents contributing to neurodevelopmental disease risk in children....
3.
Cali F, Di Blasi F, Avola E, Vinci M, Musumeci A, Gloria A, et al.
Medicina (Kaunas)
. 2023 Aug;
59(8).
PMID: 37629793
: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is...
4.
Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, et al.
medRxiv
. 2023 Jun;
PMID: 37292616
We examined more than 38,000 spouse pairs from four neurodevelopmental disease cohorts and the UK Biobank to identify phenotypic and genetic patterns in parents associated with neurodevelopmental disease risk in...
5.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe B, et al.
Nat Commun
. 2020 Oct;
11(1):5398.
PMID: 33087701
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
6.
Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe B, et al.
Nat Commun
. 2020 Oct;
11(1):4932.
PMID: 33004838
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the significance in case-control mutation burden analysis is unestablished. Here, we sequence...
7.
Pizzo L, Jensen M, Polyak A, Rosenfeld J, Mannik K, Krishnan A, et al.
Genet Med
. 2018 Sep;
21(4):816-825.
PMID: 30190612
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed...
8.
Geisheker M, Heymann G, Wang T, Coe B, Turner T, Stessman H, et al.
Nat Neurosci
. 2017 Jun;
20(8):1043-1051.
PMID: 28628100
Although de novo missense mutations have been predicted to account for more cases of autism than gene-truncating mutations, most research has focused on the latter. We identified the properties of...
9.
Stessman H, Xiong B, Coe B, Wang T, Hoekzema K, Fenckova M, et al.
Nat Genet
. 2017 Feb;
49(4):515-526.
PMID: 28191889
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most of the related pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 cases and >2,867...
10.
Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, et al.
Am J Med Genet A
. 2015 Oct;
167A(12):3038-45.
PMID: 26420380
The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic...