World's Best Scientists 2026 revealed!
Francesco Brancati

Francesco Brancati

D-Index & Metrics

Genetics

D-Index
55
Citations
13393
World Ranking
3569
National Ranking
79

Overview

Francesco Brancati is affiliated with the University of L'Aquila in Italy. Their research predominantly spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Within these domains, they have produced a significant body of work focused on Genetics, Molecular Biology, Cardiology and Cardiovascular Medicine, Public Health, Environmental and Occupational Health, and Rheumatology.

A key area of Francesco Brancati's research involves genomic variations and chromosomal abnormalities. Other important topics in their work include genetics and neurodevelopmental disorders, genomics and rare diseases, craniofacial disorders and treatments, reproductive biology and fertility, congenital ear and nasal anomalies, and cardiovascular effects of exercise.

Their recent papers demonstrate collaborations with various co-authors and contributions to multiple scientific journals. Some of the notable recent publications include:

  • "Molecular Genetics of Niemann-Pick Type C Disease in Italy: An Update on 105 Patients and Description of 18 NPC1 Novel Variants," 2020, Journal of Clinical Medicine
  • "Fundamental role of BMP15 in human ovarian folliculogenesis revealed by null and missense mutations associated with primary ovarian insufficiency," 2020, Human Mutation
  • "Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset," 2021, Frontiers in Endocrinology
  • "Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network," 2020, The Italian Journal of Pediatrics
  • "Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy," 2021, Brain Communications

Frequent co-authors associated with their research include:

  • Chiara De Luca
  • Paola Fortugno
  • Andrea Bondavalli
  • Raffaella Rossetti
  • Silvia Moleri

Their work has appeared regularly in a range of scientific publication venues, including:

  • Clinical Genetics
  • American Journal of Medical Genetics Part A
  • The Italian Journal of Pediatrics
  • Human Genetics and Genomics Advances
  • International Journal of Cardiology

In addition to journal articles, Francesco Brancati has contributed to book publications. One such contribution is to the title "Certifications of Critical Systems - The CECRIS Experience," published in 2022 by River Publishers eBooks.

Best Publications

  • Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

    Darío G. Lupiáñez;Darío G. Lupiáñez;Katerina Kraft;Katerina Kraft;Verena Heinrich;Peter Krawitz;Peter Krawitz

  • Formation of new chromatin domains determines pathogenicity of genomic duplications

    Martin Franke;Martin Franke;Daniel M. Ibrahim;Guillaume Andrey;Wibke Schwarzer

  • Mutations in CEP290 , which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

    Enza Maria Valente;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Giuseppe Barrano;Giuseppe Barrano

  • Joubert Syndrome and related disorders

    Francesco Brancati;Bruno Dallapiccola;Enza Maria Valente;Enza Maria Valente

  • Parkes Weber syndrome, vein of galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

    Nicole Revencu;Laurence M. Boon;John B. Mulliken;Odile Enjolras

  • Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

    Stephanie L Bielas;Jennifer L Silhavy;Francesco Brancati;Francesco Brancati;Marina V Kisseleva

  • Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome

    Vincent Cantagrel;Jennifer L. Silhavy;Stephanie L. Bielas;Dominika Swistun

  • Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

    Enza Maria Valente;Clare V Logan;Soumaya Mougou-Zerelli;Jeong Ho Lee

  • Mutations in PYCR1 cause cutis laxa with progeroid features

    Bruno Reversade;Nathalie Escande-Beillard;Aikaterini Dimopoulou;Bjorn Fischer

  • Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

    Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell

  • CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.

    Francesco Brancati;Giuseppe Barrano;Jennifer L. Silhavy;Sarah E. Marsh

  • AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

    Carrie M. Louie;Gianluca Caridi;Vanda S. Lopes;Vanda S. Lopes;Francesco Brancati

  • CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

    Ji Eun Lee;Jennifer L Silhavy;Maha S Zaki;Jana Schroth

  • Genotypes and phenotypes of Joubert syndrome and related disorders

    Enza Maria Valente;Francesco Brancati;Bruno Dallapiccola

  • Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

    Hans Christian Hennies;Uwe Kornak;Uwe Kornak;Haikuo Zhang;Haikuo Zhang;Johannes Egerer

  • Clinical and molecular genetics of Leber's congenital amaurosis: A multicenter study of Italian patients

    Francesca Simonelli;Carmela Ziviello;Francesco Testa;Settimio Rossi

  • PARK6-linked parkinsonism occurs in several European families.

    Enza Maria Valente;Francesco Brancati;Alessandro Ferraris;Elizabeth A. Graham

  • Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases

    C. Fallerini;L. Dosa;R. Tita;D. Del Prete

  • A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13

    F Brancati;E M Valente;A Sarkozy;J Fehèr

  • AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

    Enza Maria Valente;Francesco Brancati;Francesco Brancati;Francesco Brancati;Jennifer L. Silhavy;Marco Castori

Frequent Co-Authors

Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Enza Maria Valente
Enza Maria Valente University of Pavia
Stefan Mundlos
Stefan Mundlos Max Planck Society
Eugen Boltshauser
Eugen Boltshauser University of Zurich
Joseph G. Gleeson
Joseph G. Gleeson University of California, San Diego
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Uwe Kornak
Uwe Kornak University of Göttingen
Hülya Kayserili
Hülya Kayserili Koç University
Giuseppe Novelli
Giuseppe Novelli University of Rome Tor Vergata
Alfredo Berardelli
Alfredo Berardelli Sapienza University of Rome

If you think any of the details on this page are incorrect, let us know.

Report an issue

We appreciate your kind effort to assist us to improve this page, it would be helpful providing us with as much detail as possible in the text box below:

Related Online Degrees & Career Pathways

Exploring Genetics in the USA opens doors not only to research but also to a range of healthcare careers. For students thinking about branching into nursing or healthcare leadership, online learning offers practical routes to acquire essential skills and credentials from home.

Many future healthcare professionals begin their journey by completing the best online nursing prerequisites. These programs provide a solid foundation in science and patient care—knowledge that overlaps with genetics and is valuable in many clinical settings.

For those aiming to advance their careers, enrolling in affordable fnp programs can pave the way to becoming a Family Nurse Practitioner. This role benefits greatly from genetics expertise, particularly in personalized medicine and patient counseling.

Registered nurses looking to build on their credentials and understanding of genetics may be interested in the cheapest rn to bsn options. Meanwhile, the best online dnp programs are ideal for those aspiring to leadership or advanced practice, offering courses that integrate genetics research and clinical practice.

Best Scientists Citing Francesco Brancati

Trending Scientists