Francesco Vetrini
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
92
Citations
8,981
Est. group size
~9
Recurring co-author estimate
Active years
25
Publishing since 2002
Francesco Vetrini studies the genetic causes of rare inherited diseases, using DNA sequencing technologies (such as exome and whole-genome sequencing) to identify the specific gene variants responsible for conditions like neurodevelopmental disorders, autism, and structural birth defects. The work connects newly discovered genetic mutations to patients' clinical features and, in some cases, explores approaches to correct them, such as antisense oligonucleotide therapy. Much of this research involves diagnostic testing and establishing reference standards for clinical genetic laboratories.
Publication activity has been steady to growing over the last decade, rising from around 4 papers per year early on to about 10 per year in the most recent full years.
Generated by claude-opus-4-8 from public bibliographic data · Jul 11, 2026
- A class of deep intronic <i>IGHMBP2</i> variants activate a shared cryptic splice donor, enabling correction of select variants with a single antisense oligonucleotide
medRxiv · 2026
- Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
The American Journal of Human Genetics · 2023
- Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
Clinical Case Reports · 2022
- Characterization of Reference Materials with an Association for Molecular Pathology Pharmacogenetics Working Group Tier 2 Status: CYP2C9, CYP2C19, VKORC1, CYP2C Cluster Variant, and GGCX
Journal of Molecular Diagnostics · 2021
- Familial Autonomic Ganglionopathy Caused by Rare <i>CHRNA3</i> Genetic Variants
Neurology · 2021
- Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report
Molecular Genetics and Metabolism · 2021
- Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing
Journal of Molecular Diagnostics · 2020
- <scp>Genotype‐phenotype</scp> study and expansion of <scp> <i>ARL6IP1</i> ‐related </scp> complicated hereditary spastic paraplegia
Clinical Genetics · 2020
- Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies
bioRxiv (Cold Spring Harbor Laboratory) · 2020
- Author response for "<scp>Genotype‐phenotype</scp> study and expansion of <scp> <i>ARL6IP1</i> ‐related </scp> complicated hereditary spastic paraplegia"
2020
- Reanalysis of Clinical Exome Sequencing Data
New England Journal of Medicine · 2019
- Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway
The American Journal of Human Genetics · 2019
- Cover Image, Volume 40, Issue 3
Human Mutation · 2019
- Abstract P176: Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants. Novel Genetic Cause of Neurogenic Orthostatic Hypotension
Hypertension · 2019
- Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Genome Medicine · 2018
- The American Journal of Human Genetics×7
- Genetics in Medicine Open×7
- Genome Medicine×4
- American Journal of Medical Genetics Part A×4
- Genetics in Medicine×3
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Jul 11, 2026.
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