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Francesco Brancati
University of L'Aquila, Sapienza University of Rome
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Genetic and Kidney Cyst Diseases · Genetics and Neurodevelopmental Disorders
0000-0003-3624-2354
Employment
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University of L'Aquila Professor2016 - Present
Education
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Sapienza Università di Roma Medical Genetics1999 - 2004
Projects & Funding
Projects & funding information is unavailable.
Publications (181)
- Perceived cancer risk and genetic counseling: A biopsychological perspective Save
- Clinical efficacy of low‐dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2 Save
- Chromatin conformation capture in the clinic: 4C-seq/HiC distinguishes pathogenic from neutral duplications at the GPR101 locus Save
- 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review Save
- Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions Save
- Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology (vol 364, pg 169, 2022) Save
- Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome Save
- 2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 15 new cases and a literature review Save
- A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease Save
- A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay Save
- An Unusual Case of Autoantibody-Negative Ketosis-Prone Diabetes (KPD) Secondary to Marked Insulin Resistance Save
- An explainable model of host genetic interactions linked to COVID-19 severity Save
- Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features (Nature Genetics, (2009), 41, 9, (1016-1021), 10.1038/ng.413) Save
- Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity Save
- De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway Save
- Genome-wide DNA methylation analysis of a cohort of 41 patients affected by Oculo-Auriculo-Vertebral Spectrumpatients affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) Save
- HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations Save
- Modelling and Assessing the Risk of Cascading Effects with ResilBlockly Save
- Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology Save
- RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis Save