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Francesco Vetrini

Baylor University
Baylor College of Medicine

48

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4138

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Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report

2021 Molecular Genetics and Metabolism
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Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants.

2021 Neurology
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Deletion of SMC3 in an individual with heart defects and syndromic features: is haploinsufficiency an unrecognized disease mechanism?

2021 Molecular Genetics and Metabolism
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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

2020 bioRxiv
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EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction.

2020 American Journal of Medical Genetics Part A
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.

2020 Genetics in Medicine
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project.

2020 The Journal of Molecular Diagnostics
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Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.

2020 Clinical Genetics
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project.

2020 The Journal of Molecular Diagnostics
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing

2020 The Journal of Molecular Diagnostics
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