Maria Clara Bonaglia
Maria Clara Bonaglia is an expert in Genetics at IRCCS Eugenio Medea (Italy). Maria Clara Bonaglia has authored 78 publications, the most recent in 2026, and is an investigator in 1 clinical trial, 1 of them ongoing. SLR score: 205 (community average: 125). How the SLR is computed.
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Genetics
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Publications and Clinical Studies
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Organizations
Career arc: 1993 - 2026
Number : 78
Citations
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Latest Publications
5 most recent indexed articles
Source: Pubmed
| Title | Journal | Year | Citations |
|---|---|---|---|
| TRAPPC9-Related Intellectual Developmental Disorder: A Systematic Review and a Novel Case of a Complex Structural Variant. PMID 42353817 — genomics, phenotype, neurodevelopmental disorders, genome, genotype, intellectual disability, microcephaly | Genes (Basel) | 2026 | 0 |
| Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. PMID 41300786 — genes, epilepsy, genomics, phenotype, genome, pyridoxine, seizures, diagnosis, therapeutics, child | Genes (Basel) | 2025 | 0 |
| Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case. PMID 40467929 — cold temperature, genome | Eur J Hum Genet | 2025 | 0 |
| Small Complex Rearrangement in -Related Axonal Neuropathy. PMID 39596683 — genes, genomics, muscles, 5' untranslated regions, isaacs syndrome, intellectual disability | Genes (Basel) | 2024 | 0 |
| Further evidence supporting the role of GTDC1 in glycine metabolism and neurodevelopmental disorders. PMID 38605125 — epilepsy, neurodevelopmental disorders, enzyme-linked immunosorbent assay, glycine, intellectual disability, genetics, medical, speech, microcephaly, neurodevelopment | Eur J Hum Genet | 2024 | 5 |
Clinical Studies 1
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Ongoing Clinical Trials
Ongoing trial started since 2021, where this expert is an investigator
Source: ClinicalTrials
| Study | Phase | Status | Start |
|---|---|---|---|
| Expanding NGS Data with Optical Genome Mapping (OGM) NCT06851377 — cells, genes, gene expression profiling, whole genome sequencing, transcriptome, neurodevelopmental disorders, genome, cell line, diagnosis, fibroblasts, b-lymphocytes, genetic diseases, inborn, child, neurodevelopment | N/A | Recruiting | 2024 |
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