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Molecular Biology

D-Index
61
Citations
33408
World Ranking
1873
National Ranking
38

Overview

Giuseppe Merla is affiliated with the University of Naples Federico II in Italy. Their research primarily falls within the broad field of Biochemistry, Genetics and Molecular Biology, with a publication record encompassing 105 works in this domain. Key subfields of study include Molecular Biology, Genetics, Immunology, Surgery, and Developmental Neuroscience.

Their scholarly output focuses on several main topics, notably:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Epigenetics and DNA Methylation
  • Congenital heart defects research
  • Genomic variations and chromosomal abnormalities
  • Interferon and immune responses
  • Genetic Syndromes and Imprinting

Giuseppe Merla has published extensively in specific scientific venues, including:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Genes
  • Clinical Genetics
  • International Journal of Molecular Sciences

Their research contributions include the following recent papers:

  • Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders (2021, Human Genetics and Genomics Advances)
  • The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study (2020, Frontiers in Genetics)
  • Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders (2022, Human Mutation)
  • A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome (2020, Genetics in Medicine)
  • DNA Methylation in the Diagnosis of Monogenic Diseases (2020, Genes)

Frequent collaborators contributing to these research efforts include:

  • Gabriella Maria Squeo
  • Jennifer Kerkhof
  • Paolo Prontera
  • Bekim Sadiković
  • Haley McConkey

Best Publications

  • Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

    Daniel J. Klionsky;Amal Kamal Abdel-Aziz;Sara Abdelfatah;Mahmoud Abdellatif

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • The tripartite motif family identifies cell compartments.

    Alexandre Reymond;Germana Meroni;Anna Fantozzi;Giuseppe Merla

  • Genetic mechanisms of critical illness in Covid-19.

    E. Pairo-Castineira;E. Pairo-Castineira;S. Clohisey;L. Klaric;A. D. Bretherick

  • Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

  • Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

    Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  • Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Daniel J. Klionsky;Kotb Abdelmohsen;Akihisa Abe;Joynal Abedin

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

    Elisa Benetti;Rossella Tita;Ottavia Spiga;Andrea Ciolfi

  • Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

    Giuseppe Merla;Cédric Howald;Charlotte N. Henrichsen;Robert Lyle

  • Kabuki syndrome: international consensus diagnostic criteria.

    Margaret P. Adam;Siddharth Banka;Hans T. Bjornsson;Hans T. Bjornsson;Olaf Bodamer

  • Copy number variants at Williams-Beuren syndrome 7q11.23 region.

    Giuseppe Merla;Nicola Brunetti-Pierri;Nicola Brunetti-Pierri;Lucia Micale;Carmela Fusco

  • Identification of additional transcripts in the Williams-Beuren syndrome critical region.

    Giuseppe Merla;Catherine Ucla;Michel Guipponi;Alexandre Reymond

  • WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

    Stefano Cairo;Giuseppe Merla;Fabrizia Urbinati;Andrea Ballabio

  • Prevalence of Apolipoprotein E Alleles in Healthy Subjects and Survivors of Ischemic Stroke An Italian Case-Control Study

    Maurizio Margaglione;Davide Seripa;Carolina Gravina;Elvira Grandone

  • 7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.

    Antonio Adamo;Sina Atashpaz;Pierre Luc Germain;Matteo Zanella

  • E3 Ubiquitin Ligase TRIM Proteins, Cell Cycle and Mitosis

    Santina Venuto;Giuseppe Merla

  • Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer

    Lucia Anna Muscarella;Paola Parrella;Vito D’Alessandro;Annamaria la Torre

  • Regulation of KEAP1 expression by promoter methylation in malignant gliomas and association with patient's outcome.

    Lucia Anna Muscarella;Raffaela Barbano;Vincenzo D'Angelo;Massimiliano Copetti

  • MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

    P. Makrythanasis;B. W. van Bon;M. Steehouwer;B. Rodriguez-Santiago

  • Mlx, a new Max-like bHLHZip family member: the center stage of a novel transcription factors regulatory pathway?

    Germana Meroni;Stefano Cairo;Giuseppe Merla;Silvia Messali

Frequent Co-Authors

Alexandre Reymond
Alexandre Reymond University of Lausanne
Vito Michele Fazio
Vito Michele Fazio Università Campus Bio-Medico
Massimo Carella
Massimo Carella Casa Sollievo della Sofferenza
Andrea Ballabio
Andrea Ballabio Baylor College of Medicine
Leopoldo Zelante
Leopoldo Zelante Casa Sollievo della Sofferenza
Nicola Brunetti-Pierri
Nicola Brunetti-Pierri University of Naples Federico II
Stylianos E. Antonarakis
Stylianos E. Antonarakis University of Geneva
Sergio Lavandero
Sergio Lavandero University of Chile
Alessandra Renieri
Alessandra Renieri University of Siena
Evelina Gatti
Evelina Gatti Aix-Marseille University

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