Alessandra Ferlini

University of Ferrara — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

66h-index14.7kcitations499works4.92yr avg
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Research Topics

Muscle Physiology and Disorders(205), RNA Research and Splicing(76), Genomics and Rare Diseases(54), Cardiomyopathy and Myosin Studies(52), Neurogenetic and Muscular Disorders Research(50)

Publications481 total

Economic evaluation of next-generation sequencing technologies in pediatric patient groups with confirmed or possible rare diseases: A systematic literature review
Genetics in Medicine·2025Open Access
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSC-derived myogenic progenitor cells
Stem Cell Reports·2025Open Access
Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing
Genetics in Medicine·2025
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report
Biomolecules·2025Open Access
618PCarriers of DMD-gene variants: an international survey on clinical presentation and care provision to identify gaps and challenges
Neuromuscular Disorders·2025
EE505 Economic Evaluation of Next-Generation Sequencing Technologies in Paediatric Patient Groups With Rare Diseases: a Systematic Review
Value in Health·2025
Characterization of a novel FLI1 mutation in a family with thrombocytopenia and other congenital malformations
Haematologica·2025Open Access
TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project
Orphanet Journal of Rare Diseases·2025· 2 citedOpen Access
Data-driven consideration of genetic disorders for global genomic newborn screening programs
Genetics in Medicine·2025· 22 citedOpen Access
MECP2 mRNA Profile in Brain Tissues from a Rett Syndrome Patient and Three Human Controls: Mutated Allele Preferential Transcription and In Situ RNA Mapping
Biomolecules·2025· 2 citedOpen Access
The most bothersome symptoms in neuromuscular diseases: the ERN EURO NMD Survey
Orphanet Journal of Rare Diseases·2025· 3 citedOpen Access
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&amp;gt;T
Brain·2025· 1 citedOpen Access
Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing
Genome Research·2025· 16 citedOpen Access
O48: International Consortium on Newborn Sequencing (ICoNS) consensus guidelines for gene selection in genomic newborn screening programs
Genetics in Medicine Open·2025Open Access
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs
Genes·2024· 2 citedOpen Access
Prevalence of Duchenne muscular dystrophy in Italy: a nationwide survey
European Journal of Pediatrics·2024· 2 citedOpen Access
Modulation of the JAK2-STAT3 pathway promotes expansion and maturation of human iPSCs-derived myogenic progenitor cells
2024· 1 citedOpen Access
Miglustat as Disease‐Modifying Therapy in a Patient with <scp><i>SCARB2</i></scp>‐Related Action Myoclonus Renal Failure
Movement Disorders Clinical Practice·2024· 1 citedOpen Access
Restored Collagen VI Microfilaments Network in the Extracellular Matrix of CRISPR-Edited Ullrich Congenital Muscular Dystrophy Fibroblasts
Biomolecules·2024· 3 citedOpen Access
Natural history of Becker muscular dystrophy: <i>DMD</i> gene mutations predict clinical severity
Brain·2024· 12 citedOpen Access
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Frequent Co-authors

Francesca Gualandi(15), Luciano Merlini(9), Enrico Bertini(9), Claudio Rapezzi(8), Marika Pane(8), Eugenio Mercuri(8), Marcella Neri(8), Simone Longhi(7), Francesco Muntoni(6), Candida Cristina Quarta(6), Ornella Leone(6), Fabrizio Salvi(6), Paola Rimessi(6), Patrizia Sabatelli(6), Volker Straub(6), Angela Berardinelli(6), Francesco Muntoni(6), Giacomo P. Comi(6), Kate Bushby(5), Adele D’Amico(5)