Michele Pinelli
Overview
Explore the profile of Michele Pinelli including associated specialties, affiliations and a list of published articles.
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Articles
60
Citations
956
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Recent Articles
1.
Bonfiglio F, Legati A, Lasorsa V, Palombo F, De Riso G, Isidori F, et al.
Hum Genomics
. 2024 Nov;
18(1):120.
PMID: 39501379
This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data...
2.
De Falco A, Gambale A, Pinelli M, Suero T, De Falco L, Iolascon A, et al.
Cells
. 2024 Jul;
13(13.
PMID: 38994932
Chromosomal rearrangements can interfere with the disjunction and segregation of other chromosome pairs not involved in the rearrangements, promoting the occurrence of numerical abnormalities in resulting gametes and predisposition to...
3.
Stegmann J, Kalanithy J, Dworschak G, Ishorst N, Mingardo E, Lopes F, et al.
NPJ Genom Med
. 2024 Mar;
9(1):18.
PMID: 38429302
CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum...
4.
Coppola A, Krithika S, Iacomino M, Bobbili D, Balestrini S, Bagnasco I, et al.
Epilepsia
. 2023 Dec;
65(3):779-791.
PMID: 38088023
Objective: Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure-induced seizures with electroencephalographic paroxysms, and photosensitivity. Based...
5.
Licata L, Via A, Turina P, Babbi G, Benevenuta S, Carta C, et al.
Front Mol Biosci
. 2023 May;
10:1169109.
PMID: 37234922
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most cases, those affected face difficulties in receiving a clinical diagnosis and genetic characterization. The understanding of...
6.
Ruiz-Ceja K, Capasso D, Pinelli M, Del Prete E, Carrella D, di Bernardo D, et al.
BMC Genomics
. 2023 Apr;
24(1):206.
PMID: 37072692
Background: Inherited retinal diseases (IRD) are genetically heterogeneous disorders that cause the dysfunction or loss of photoreceptor cells and ultimately lead to blindness. To date, next-generation sequencing procedures fail to...
7.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, et al.
Am J Hum Genet
. 2023 Apr;
110(5):790-808.
PMID: 37071997
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA, regulating both constitutive and alternative...
8.
Paul M, Duncan A, Genetti C, Pan H, Jackson A, Grant P, et al.
Am J Hum Genet
. 2023 Mar;
110(3):548.
PMID: 36868207
No abstract available.
9.
De Laurentiis A, Ciaccio C, Erbetta A, Pinelli M, Nigro V, Pantaleoni C, et al.
Am J Med Genet A
. 2023 Jan;
191(5):1350-1354.
PMID: 36680497
The ubiquitin-specific protease USP9X has been found to play a role in multiple aspects of neural development including processes of neuronal migrations. In males, hemizygous partial loss of function variants...
10.
Paul M, Duncan A, Genetti C, Pan H, Jackson A, Grant P, et al.
Am J Hum Genet
. 2022 Dec;
110(1):120-145.
PMID: 36528028
Eukaryotic initiation factor-4A2 (EIF4A2) is an ATP-dependent RNA helicase and a member of the DEAD-box protein family that recognizes the 5' cap structure of mRNAs, allows mRNA to bind to...