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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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Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer

European journal of nuclear medicine and molecular imaging, 2021-10, Vol.48 (11), p.3643-3655

2021

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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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Recessively inherited coagulation disorders

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

2004

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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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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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Profiling the mutational landscape of coagulation factor V deficiency

Haematologica (Roma), 2020-04, Vol.105 (4), p.e180-e185

2020

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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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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.621-631

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-e369

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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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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How I faced my prostate cancer: a molecular biologist’s perspective

NPJ precision oncology, 2021-09, Vol.5 (1), p.88-88, Article 88

2021

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The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1

Frontiers in molecular neuroscience, 2018-02, Vol.11, p.64-64

2018

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β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

Cells (Basel, Switzerland), 2022-07, Vol.11 (15), p.2343

2022

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Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.369-377

2020

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature

Thoracic cancer, 2021-05, Vol.12 (9), p.1271-1278

2021

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DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease

Frontiers in cell and developmental biology, 2021-11, Vol.9, p.778677-778677

2021

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Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients

Biomedicines, 2018-12, Vol.6 (4), p.117

2018

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Hereditary Hypofibrinogenemia with Hepatic Storage

Radiomics and gene expression profile to characterise the disease and predict outcome in patients with lung cancer

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

Recessively inherited coagulation disorders

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

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

Profiling the mutational landscape of coagulation factor V deficiency

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

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

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

How I faced my prostate cancer: a molecular biologist’s perspective

The LRRK2 Variant E193K Prevents Mitochondrial Fission Upon MPP+ Treatment by Altering LRRK2 Binding to DRP1

β-Glucocerebrosidase Deficiency Activates an Aberrant Lysosome-Plasma Membrane Axis Responsible for the Onset of Neurodegeneration

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature

DNA Methylation Signature in Monozygotic Twins Discordant for Psoriatic Disease

Genetic Association and Altered Gene Expression of CYBB in Multiple Sclerosis Patients

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