A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016 · Clinical Epigenetics · 68 citations
https://doi.org/10.1186/s13148-016-0183-8
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Alessandro Mussa
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Alessandro Mussa is an academic researcher from United States Government Accountability Office. The author has contributed to research in topics: Genetic Syndromes and Imprinting & Epigenetics and DNA Methylation & Prenatal Screening and Diagnostics. The author has an h-index of 42, co-authored 204 publications.
ORCID: 0000-0003-2795-6013Papers by this author
worksThe detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
2024 · Human Genetics · 12 citations
https://doi.org/10.1007/s00439-024-02679-w
Expanding the phenotypic spectrum of PROS: reclassifying isolated lateralised overgrowth
2025 · Journal of Medical Genetics · 2 citations
https://doi.org/10.1136/jmg-2024-110364
Relevance of next generation sequencing (NGS) data re-analysis in the diagnosis of monogenic diseases leading to organ failure
2023 · BMC Medical Genomics · 1 citations
https://doi.org/10.1186/s12920-023-01747-w
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
2025 · Clinical Epigenetics · 1 citations
https://doi.org/10.1186/s13148-025-01971-4
Beckwith-Wiedemann spectrum (BWSp): an update on diagnosis, management, and follow-up from the scientific committee of the Italian BWSp association
2025 · The Italian Journal of Pediatrics/Italian journal of pediatrics · 1 citations
https://doi.org/10.1186/s13052-025-02131-3
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