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Sofia Saenz Ayala

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report
2022 · Subba Rao Indugula, Sofia Saenz Ayala, et al. · Clinical Case Reports · 9
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A rare case of postnatal mosaic trisomy 12 with severe congenital heart disease and literature review
2021 · Xiaolin Hu, Sofia Saenz Ayala, et al. · American Journal of Medical Genetics Part A · 6
Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms
2024 · Carol L. Greene, Sofia Saenz-Ayala, et al. · Molecular Genetics and Metabolism · 2
Genetics 101
2023 · Alyce Belonis, Sofia Saenz Ayala · Pediatric Clinics of North America
eP248: Impact of DNA methylation signature exploration for variants of uncertain significance within epigenetic syndromes
2022 · Olivia Gittens, Dima Qu'd, et al. · Genetics in Medicine
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Clinical whole exome sequencing in a patient with multiple rare diseases
2021 · Xiaoli Du, Sofia Saenz Ayala, et al. · Molecular Genetics and Metabolism
Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: a case report
2021 · Sofia Saenz Ayala, Subba Indugula, et al. · Molecular Genetics and Metabolism
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Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V deficiency
2021 · Satish Maharaj, Sofia Saenz Ayala, et al. · Blood Coagulation & Fibrinolysis
Works count: 8
Citation count: 17
H-index: 2
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