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

Aging (Albany, NY.), 2020-06, Vol.12 (11), p.10087-10098

2020

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Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

Annals of neurology, 2016-11, Vol.80 (5), p.662-673

2016

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Hereditary Hypofibrinogenemia with Hepatic Storage

International journal of molecular sciences, 2020-10, Vol.21 (21), p.7830

2020

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Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

International journal of molecular sciences, 2017-12, Vol.18 (12), p.2711

2017

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The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

International journal of molecular sciences, 2017-03, Vol.18 (3), p.576-576

2017

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Recessively inherited coagulation disorders

Blood, 2004-09, Vol.104 (5), p.1243-1252

2004

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DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Annals of neurology, 2017-10, Vol.82 (4), p.640-646

2017

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Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders

Movement disorders, 2021-01, Vol.36 (1), p.251-255

2021

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In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

PloS one, 2023-01, Vol.18 (1), p.e0273586-e0273586

2023

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Profiling the mutational landscape of coagulation factor V deficiency

Haematologica (Roma), 2020-04, Vol.105 (4), p.e180

2020

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First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Journal of human genetics, 2016-04, Vol.61 (4), p.295-300

2016

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Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

Frontiers in genetics, 2018-12, Vol.9, p.647-647

2018

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A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Human molecular genetics, 2012-02, Vol.21 (3), p.577-585

2012

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Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

PloS one, 2017-06, Vol.12 (6), p.e0178630-e0178630

2017

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Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

International journal of molecular sciences, 2019-02, Vol.20 (4), p.910

2019

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Congenital factor XI deficiency: an update

Seminars in thrombosis and hemostasis, 2013-09, Vol.39 (6), p.621

2013

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Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease

Haematologica (Roma), 2020-07, Vol.105 (7), p.e365

2020

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SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

Frontiers in genetics, 2021-02, Vol.12, p.606630

2021

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Editorial: RNA Splicing and Backsplicing: Disease and Therapy

Frontiers in genetics, 2020-12, Vol.11, p.626835-626835

2020

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Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

International journal of molecular sciences, 2011-12, Vol.12 (12), p.8695-8712

2011

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Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Thrombosis research, 2015-07, Vol.136 (1), p.168-174

2015

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

PLoS genetics, 2015-02, Vol.11 (2), p.e1004855-e1004855

2015

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First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Frontiers in genetics, 2018-10, Vol.9, p.464-464

2018

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Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology

Frontiers in oncology, 2021-05, Vol.11, p.654140-654140

2021

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

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters

Recognition and inhibition of SARS-CoV-2 by humoral innate immunity pattern recognition molecules

Hereditary Hypofibrinogenemia with Hepatic Storage

Fibrinogen as a Pleiotropic Protein Causing Human Diseases: The Mutational Burden of Aα, Bβ, and γ Chains

The Characterization of GSDMB Splicing and Backsplicing Profiles Identifies Novel Isoforms and a Circular RNA That Are Dysregulated in Multiple Sclerosis

Recessively inherited coagulation disorders

DNAJC12 and dopa‐responsive nonprogressive parkinsonism

Low Prevalence of NOTCH2NLC GGC Repeat Expansion in White Patients with Movement Disorders

In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

Profiling the mutational landscape of coagulation factor V deficiency

First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family

Interpreting Non-coding Genetic Variation in Multiple Sclerosis Genome-Wide Associated Regions

A novel mutation within the MIR96 gene causes non-syndromic inherited hearing loss in an Italian family by altering pre-miRNA processing

Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysis

Understanding the Impact of Aberrant Splicing in Coagulation Factor V Deficiency

Congenital factor XI deficiency: an update

Rare variants lowering the levels of coagulation factor X are protective against ischemic heart disease

SLC22A4 Gene in Hereditary Non-syndromic Hearing Loss: Recurrence and Incomplete Penetrance of the p.C113Y Mutation in Northwest Africa

Editorial: RNA Splicing and Backsplicing: Disease and Therapy

Genetic association and altered gene expression of mir-155 in multiple sclerosis patients

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology

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