World's Best Scientists 2026 revealed!
Maria Cristina Digilio

Maria Cristina Digilio

D-Index & Metrics

Biology and Biochemistry

D-Index
85
Citations
22232
World Ranking
3197
National Ranking
59

Overview

Maria Cristina Digilio is affiliated with the University of Naples Federico II in Italy. Their research focuses on the fields of Biochemistry, Genetics and Molecular Biology, with significant work also within Medicine. The subfields of study represented in their publications include Molecular Biology, Genetics, Epidemiology, Pulmonary and Respiratory Medicine, and Surgery.

The main topics covered in their scientific work are:

  • Congenital heart defects research
  • Genomics and Rare Diseases
  • Congenital Heart Disease Studies
  • Genetics and Neurodevelopmental Disorders
  • Genomic variations and chromosomal abnormalities
  • Protein Tyrosine Phosphatases
  • Williams Syndrome Research

Maria Cristina Digilio has contributed to numerous papers, including recent publications such as:

  • Hypertrophic Cardiomyopathy in RASopathies, 2021, Heart Failure Clinics
  • SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling, 2020, The American Journal of Human Genetics
  • Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2, 2021, Genetics in Medicine
  • KBG syndrome: Common and uncommon clinical features based on 31 new patients, 2020, American Journal of Medical Genetics Part A
  • Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications, 2020, European Journal of Human Genetics

Their frequent co-authors include:

  • Antonio Novelli
  • Maria Lisa Dentici
  • Bruno Dallapiccola
  • Marco Tartaglia
  • Bruno Marino

Maria Cristina Digilio often publishes in the following venues:

  • American Journal of Medical Genetics Part A
  • European Journal of Human Genetics
  • Genes
  • Clinical Genetics
  • Brain Sciences

Best Publications

  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy

    Bhaswati Pandit;Anna Sarkozy;Len A Pennacchio;Claudio Carta

  • Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome

    Marco Tartaglia;Len A Pennacchio;Len A Pennacchio;Chen Zhao;Kamlesh K Yadav

  • Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

    Anne S Bassett;Donna M McDonald-McGinn;Koenraad Devriendt;Maria Cristina Digilio

  • Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

    Maria Cristina Digilio;Emanuela Conti;Anna Sarkozy;Rita Mingarelli

  • Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair

    Viviana Cordeddu;Elia Di Schiavi;Len A. Pennacchio;Len A. Pennacchio;Avi Ma’ayan

  • Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

    Damien Lederer;Bernard Grisart;Maria Cristina Digilio;Valérie Benoit

  • Germline BRAF mutations in noonan, LEOPARD, and cardiofaciocutaneous Syndromes: Molecular diversity and associated phenotypic spectrum

    Anna Sarkozy;Claudio Carta;Sonia Moretti;Giuseppe Zampino

  • Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal☆☆☆

    Bruno Marino;Maria Cristina Digilio;Alessandra Toscano;Aldo Giannotti

  • Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

    Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi

  • Do interactions between plant roots and the rhizosphere affect parasitoid behaviour

    Emilio Guerrieri;Guido Lingua;Maria Cristina Digilio;Nadia Massa

  • Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

    A. Sarkozy;Emanuela Conti;D. Seripa;M. C. Digilio

  • Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

    A Sarkozy;E Conti;M Cristina Digilio;B Marino

  • Aphid-plant interactions: a review

    Emilio Guerrieri;Maria Cristina Digilio

  • NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome

    Alessandro De Luca;Irene Bottillo;Anna Sarkozy;Claudio Carta

  • Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors

    A Sarkozy;E Conti;C Neri;R D'Agostino

  • LEOPARD syndrome: clinical diagnosis in the first year of life.

    M. Cristina Digilio;Anna Sarkozy;Andrea de Zorzi;Giuseppe Pacileo

  • Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

    Giuseppe Limongelli;Giuseppe Limongelli;Giuseppe Pacileo;Bruno Marino;Maria Cristina Digilio

  • Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot

    Antonio Pizzuti;Anna Sarkozy;Anna Sarkozy;Anthea L. Newton;Emanuela Conti

  • Anatomic patterns of conotruncal defects associated with deletion 22q11

    Bruno Marino;Maria Cristina Digilio;Alessandra Toscano;Silvia Anaclerio

  • Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

    Simone Martinelli;Oliver H.F. Krumbach;Francesca Pantaleoni;Simona Coppola

Frequent Co-Authors

Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Antonio Novelli
Antonio Novelli Boston Children's Hospital
Alessandro De Luca
Alessandro De Luca Casa Sollievo della Sofferenza
Francesco Pennacchio
Francesco Pennacchio University of Naples Federico II
Rosa Rao
Rosa Rao University of Naples Federico II
Bruce D. Gelb
Bruce D. Gelb Icahn School of Medicine at Mount Sinai
Elaine H. Zackai
Elaine H. Zackai Children's Hospital of Philadelphia
Donna M. McDonald-McGinn
Donna M. McDonald-McGinn Children's Hospital of Philadelphia
Anne S. Bassett
Anne S. Bassett University of Toronto

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 Biology and Biochemistry opens the door to a variety of healthcare and science careers. Today, many students pursue flexible pathways with online biology bachelor's degree programs, providing in-depth understanding alongside the convenience of remote study.

For those interested in direct patient care, there are several online nursing programs available. Prospective nurses can consider options such as ma to lpn bridge programs online, which help medical assistants advance into practical nursing roles. Alternatively, registered nurse online programs offer a streamlined way to become an RN, combining biological science with hands-on clinical practice.

Another growing field is nutrition, closely tied to biochemistry. If you have an interest in how diet influences health, a best online nutrition degree can lead to rewarding careers in health education, wellness coaching, and research.

These online degree options allow you to customize your education, advance in your professional journey, and specialize in areas of biology and biochemistry that align with your interests and goals.

Best Scientists Citing Maria Cristina Digilio

Trending Scientists