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D-Index & Metrics

Molecular Biology

D-Index
42
Citations
6071
World Ranking
3031
National Ranking
79

Overview

Andrea Ciolfi is affiliated with Bambino Gesù Children's Hospital in Italy. Their research primarily spans the fields of biochemistry, genetics, and molecular biology, with a specialization in genetics and molecular biology subfields. The main areas of study include genetics, molecular biology, immunology, cancer research, and pulmonary and respiratory medicine.

Their scientific work focuses on several key topics: genomics and rare diseases, genetics and neurodevelopmental disorders, epigenetics and DNA methylation, cancer genomics and diagnostics, genomic variations and chromosomal abnormalities, protein tyrosine phosphatases, and genetic syndromes and imprinting.

Andrea Ciolfi has published multiple papers in high-impact journals. Selected recent works include:

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders, 2020, The American Journal of Human Genetics
  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, 2020, European Journal of Human Genetics
  • Modeling medulloblastoma in vivo and with human cerebellar organoids, 2020, Nature Communications
  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders, 2021, Human Genetics and Genomics Advances
  • Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum, 2020, The American Journal of Human Genetics

Their research frequently appears in journals such as The American Journal of Human Genetics and the European Journal of Human Genetics, each featuring twelve of their publications. Other notable venues include Zenodo (CERN European Organization for Nuclear Research), Nature Communications, and bioRxiv (Cold Spring Harbor Laboratory).

Andrea Ciolfi collaborates regularly with several co-authors, including Marco Tartaglia, Francesca Clementina Radio, Alessandro Bruselles, Evelina Miele, and Lucia Pedace.

Best Publications

  • A dynamic balance between gene activation and repression regulates the shade avoidance response in Arabidopsis

    Giovanna Sessa;Monica Carabelli;Massimiliano Sassi;Andrea Ciolfi

  • ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population.

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  • Canopy shade causes a rapid and transient arrest in leaf development through auxin-induced cytokinin oxidase activity

    Monica Carabelli;Marco Possenti;Giovanna Sessa;Andrea Ciolfi

  • Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

    Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

  • Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome

    Fanny Kortüm;Viviana Caputo;Christiane K Bauer;Lorenzo Stella

  • A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function.

    Michael T Lam;Michael T Lam;Simona Coppola;Oliver H F Krumbach;Giusi Prencipe

  • The Arabidopsis homeodomain-leucine zipper II gene family: diversity and redundancy.

    Angela Raffaella Ciarbelli;Andrea Ciolfi;Samanta Salvucci;Valentino Ruzza

  • Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases

    Ludovica Grassi;Ludovica Grassi;Romina Alfonsi;Romina Alfonsi;Federica Francescangeli;Michele Signore

  • Mutations impairing GSK3-mediated MAF phosphorylation cause cataract, deafness, intellectual disability, seizures, and a down syndrome-like facies

    Marcello Niceta;Emilia Stellacci;Karen W. Gripp;Giuseppe Zampino

  • Integrin α7 Is a Functional Marker and Potential Therapeutic Target in Glioblastoma

    Tobias L. Haas;Tobias L. Haas;Maria Rita Sciuto;Lidia Brunetto;Cecilia Valvo;Cecilia Valvo

  • Dynamics of the Shade-Avoidance Response in Arabidopsis

    Andrea Ciolfi;Giovanna Sessa;Massimiliano Sassi;Marco Possenti

  • A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

    Viviana Caputo;Luciano Cianetti;Marcello Niceta;Claudio Carta

  • Mutations in ZBTB20 cause Primrose syndrome

    Viviana Cordeddu;Bert Redeker;Emilia Stellacci;Aldo Jongejan

  • Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome

    Viviana Cordeddu;Jiani C. Yin;Cecilia Gunnarsson;Carl Virtanen

  • Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

    Christiane K. Bauer;Paolo Calligari;Francesca Clementina Radio;Viviana Caputo

  • Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

    Birte Zurek;Kornelia Ellwanger;Lisenka E L M Vissers;Rebecca Schüle;Rebecca Schüle

  • Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy

    Elisabetta Flex;Marcello Niceta;Serena Cecchetti;Isabelle Thiffault;Isabelle Thiffault

  • Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum

    Marialetizia Motta;Luca Pannone;Francesca Pantaleoni;Gianfranco Bocchinfuso

  • Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations

    Carola Hedberg;Marcello Niceta;Fabiana Fattori;Björn Lindvall

  • Erratum: Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders (The American Journal of Human Genetics (2020) 106(3) (356–370), (S0002929720300197), (10.1016/j.ajhg.2020.01.019))

    Erfan Aref-Eshghi;Jennifer Kerkhof;Victor P. Pedro

Frequent Co-Authors

Marco Tartaglia
Marco Tartaglia Bambino Gesù Children's Hospital
Bruno Dallapiccola
Bruno Dallapiccola Bambino Gesù Children's Hospital
Enrico Bertini
Enrico Bertini Bambino Gesù Children's Hospital
Alfredo Brusco
Alfredo Brusco University of Turin
Giorgio Morelli
Giorgio Morelli The Canadian Real Estate Association
Vincenzo Nigro
Vincenzo Nigro University of Campania "Luigi Vanvitelli"
Antonio Pizzuti
Antonio Pizzuti Sapienza University of Rome
Laurence Faivre
Laurence Faivre University of Burgundy
Alessandra Renieri
Alessandra Renieri University of Siena
Tjitske Kleefstra
Tjitske Kleefstra Erasmus University Rotterdam

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