Francesco Brancati

Professor

University of L'Aquila

Italy

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About

Francesco Brancati is a Professor at the University of L'Aquila in Italy. His research areas encompass genetic counseling, neurophysiological changes in epilepsy, and chromatin conformation capture techniques in clinical settings. He has contributed significantly to the understanding of various genetic conditions, particularly in the context of neurodegenerative diseases and their phenotypic characteristics. His recent publications reflect a commitment to advancing knowledge in the field of molecular genetics and its applications in medicine.

Articles (13)

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2025

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2025

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2024

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2023

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2023

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2023

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2023

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2023

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2022

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2022

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2022

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2022

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2022

Collaborators (12)

Paola Borgia

Istituto Giannina Gaslini

ITALY

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Leonilda Bilo

Professore Associato

Università degli Studi di Napoli Federico II

ITALY

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Francesco ANGELUCCI

Full Professor of Biochemistry

University of L'Aquila

ITALY

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Mariella Valenzise

Associate Professor

ITALY

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RODOLFO IPPOLITI

FULL PROFESSOR OF MOLECULAR BIOLOGY

University of L'Aquila

ITALY

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Karl Martin Klein

GERMANY

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Nicoletta ZOPPI

Professor

University of Brescia

ITALY

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Isabella Zanella

University of Brescia

ITALY

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Ruggero De Paulis

Saint Camillus International University of Health Sciences

ITALY

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Jozef Gecz

AUSTRALIA

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Christel Depienne

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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Francesco Brancati

Research Interests

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Articles (13)

Perceived cancer risk and genetic counseling: A biopsychological perspective

Clinical efficacy of low‐dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2

Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions

Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology (vol 364, pg 169, 2022)

Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

An Unusual Case of Autoantibody-Negative Ketosis-Prone Diabetes (KPD) Secondary to Marked Insulin Resistance

An explainable model of host genetic interactions linked to COVID-19 severity

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (Nature Genetics, (2009), 41, 9, (1016-1021), 10.1038/ng.413)

Collaborators (12)

Paola Borgia

Georgios Koutsis

Leonilda Bilo

Francesco ANGELUCCI

Mariella Valenzise

RODOLFO IPPOLITI

Karl Martin Klein

Nicoletta ZOPPI

Isabella Zanella

Ruggero De Paulis

Jozef Gecz

Christel Depienne

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