Francesco Brancati - Genetic Mutations

Author Information

Francesco Brancati is affiliated with the Human Functional Genetics Laboratory at IRCCS San Raffaele Roma, located in Rome, Italy. His research primarily focuses on genetics and the molecular mechanisms underlying various genetic disorders.

Research Contributions

Francesco Brancati has made significant contributions to the field of genetics, particularly in understanding the genetic basis of various syndromes and conditions. His recent works in 2022 include studies on pathogenic variants in ARPC4, PYCR1, and CSNK2B, which are associated with conditions such as microcephaly, speech delay, cutis laxa with progeroid features, and intellectual disability-craniodigital syndrome. In 2021, he also published on various topics including Birt-Hogg-Dubé syndrome, reflex bathing epilepsy, and Teebi hypertelorism syndrome, among others.

Aliases

F. Brancati is also known by the aliases F Brancati and Francesco Brancati.

Publication and Citation Metrics

Metric	Value
Citation Count	9660
h-index	48
Paper Count	180

Publications:

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

DOI: 10.1016/j.xhgg.2021.100072

Year: 2022

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features

DOI: 10.1038/s41588-022-01013-2

Year: 2022

RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.

DOI: 10.1093/hmg/ddac046

Year: 2022

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

DOI: 10.1016/j.xhgg.2022.100111

Year: 2022

The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge

DOI:

Year: 2021

Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy

DOI: 10.1212/WNL.0000000000012298

Year: 2021

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome.

DOI: 10.1007/s00439-021-02274-3

Year: 2021

Analysis of BMP15-Induced Transcriptome in Human Granulosa Cells for the Identification of Novel Candidate Genes for Primary Ovarian Insufficiency

DOI: 10.1210/jendso/bvab048.1553

Year: 2021

HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations

DOI: 10.1101/2021.08.10.455254

Year: 2021

Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS)

DOI: 10.3390/ijms22031190

Year: 2021

How Does Genetic Research Impact Medicine?

What Is the Role of Genetics in Cognitive Development?

How Do Genes Influence Physical Development?

What Ethical Considerations Arise From Genetic Research?

How Can We Protect Ourselves from Chemical Mutagens?

What Are the Future Directions in Studying Non-Coding Mutations?

What is Hemoglobin Electrophoresis?

What Causes Cellular Heterogeneity?

Are All Silent Mutations Neutral?

How Do Translocations Occur?

Partnered Content Networks

Relevant Topics