Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Marco Fabiani

23PUBLICATIONS
63CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Cardiology (incl. cardiovascular diseases)Medical genetics (excl. cancer genetics)
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (23)

Sort by Publication Date:
|Dec 30, 2025
Neurodevelopmental Phenotype Associated with <i>TRIP12</i>: Report of a Family Carrying the p.Asp1135Val Variant.

Katia Margiotti, Marco Fabiani, Antonella Cima

|Dec 08, 2025
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations.

Silvia Caroselli, Giulia Corona, Marco Fabiani

|Jun 13, 2025
Genome-Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review.

Mario Mastrangelo, Simona Petrucci, Giuliana Lentini

|May 31, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.

Marco Fabiani, Caterina Micolonghi, Silvia Caroselli

|Jan 18, 2025
Correction: Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Marco Fabiani, Katia Margiotti, Francesco Libotte

|Dec 18, 2024
Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).

Marco Fabiani, Katia Margiotti, Francesco Libotte

Pageof 4

Frequent Collaborators

9 joint publications

Katia Margiotti

8 joint publications

Maria Piane

6 joint publications

Caterina Micolonghi

5 joint publications

Vincenzo Visco

5 joint publications

Aldo Germani

3 joint publications

Speranza Rubattu

3 joint publications

Silvia Caroselli

3 joint publications

Giacomo Tini

2 joint publications

Giovanna De Chiara

2 joint publications

Maria Elena Marcocci

Frequent Collaborators

9 joint publications

Katia Margiotti

8 joint publications

Maria Piane

6 joint publications

Caterina Micolonghi

5 joint publications

Vincenzo Visco

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

4.1K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
00:08

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on : Oct 19, 2021

5.6K
See more related videos

Top Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using <em>Drosophila</em>

Published on : Aug 20, 2019

14.2K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on : Aug 08, 2022

4.1K
Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy
00:08

Behavioral And Physiological Analysis In A Zebrafish Model Of Epilepsy

Published on : Oct 19, 2021

5.6K
See more related videos