Francesco Brancati at University of L'Aquila - Research Interests, Publications & Academic Profile

Francesco Brancati

Professor

University of L'Aquila

Italy

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Research Interests

Cell Biology

30%

Virology

40%

Medical Science

80%

Genomic

40%

Homologous Recombination

30%

Pediatric Endocrinology

20%

Genomic Instability

20%

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Articles11

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

Article Link

Year:

2024

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

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Year:

2023

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

Article Link

Year:

2023

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

Article Link

Year:

2022

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

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Year:

2022

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

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Year:

2022

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

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Year:

2022

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

Article Link

Year:

2022

Collaborators10

Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

Francesco ANGELUCCI

Full Professor of Biochemistry

University of L'Aquila

ITALY

Mariella Valenzise

Associate Professor

ITALY

RODOLFO IPPOLITI

FULL PROFESSOR OF MOLECULAR BIOLOGY

University of L'Aquila

ITALY

Karl Martin Klein

GERMANY

Nicoletta ZOPPI

Professor

University of Brescia

ITALY

Isabella Zanella

University of Brescia

ITALY

Ruggero De Paulis

Saint Camillus International University of Health Sciences

ITALY

Jozef Gecz

AUSTRALIA

Christel Depienne

Universitätsklinikum Essen Institut für Humangenetik

GERMANY

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