Publications

miR-634 is a Pol III-dependent intronic microRNA regulating alternative-polyadenylated isoforms of its host gene PRKCA.

Paraboschi EM

Biochim Biophys Acta Gen Subj. 2017 Feb 14;1861(5 Pt A):1046-1056. doi: 10.1016/j.bbagen.2017.02.016

Exploring the global landscape of genetic variation in coagulation factor XI deficiency.

Asselta R

Blood. 2017 Jun 14;130(4):e1-e6. doi: 10.1182/blood-2017-04-780148

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Straniero L

Sci Rep. 2017 Oct 5;7(1):12702. doi: 10.1038/s41598-017-12973-5

The SPID-GBA study: Sex distribution, Penetrance, Incidence, and Dementia in GBA-PD.

Straniero L

Neurol Genet. 2020 Oct 20;6(6):e523. doi: 10.1212/NXG.0000000000000523

Not only cancer: the long non-coding RNA MALAT1 affects the repertoire of alternatively spliced transcripts and circular RNAs in multiple sclerosis.

Cardamone G

Hum Mol Genet. 28(9):1414-1428. doi: 10.1093/hmg/ddy438

Profiling the mutational landscape of coagulation factor V deficiency.

Paraboschi EM

Haematologica. 2019 Aug 8;105(4):e180-e185. doi: 10.3324/haematol.2019.232587

ACE2 and TMPRSS2 variants and expression as candidates to sex and country differences in COVID-19 severity in Italy.

Asselta R

Aging (Albany NY). 2020 Jun 5;12(11):10087-10098. doi: 10.18632/aging.103415

Genomewide Association Study of Severe Covid-19 with Respiratory Failure.

Ellinghaus D

N Engl J Med. 2020 Jun 17;383(16):1522-1534. doi: 10.1056/NEJMoa2020283

Detailed stratified GWAS analysis for severe COVID-19 in four European populations.

Degenhardt F

Hum Mol Genet. 31(23):3945-3966. doi: 10.1093/hmg/ddac158

Saposin D variants are not a common cause of familial Parkinson’s disease among Italians.

Facchi D

Brain. 143(9):e71. doi: 10.1093/brain/awaa213