Hiromi Aoi
Yokohama, Japan
Last Updated: 09/26/2026
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Found 15 publications
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
Journal: NPJ genomic medicine
Published: August 14, 2025
Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.
Journal: BMC ophthalmology
Published: January 23, 2025
The first Brazilian clinical report of Kleefstra syndrome, including semicircular canals agenesis as a possible phenotype expansion.
Journal: European journal of medical genetics
Published: December 05, 2023
Imagawa-Matsumoto syndrome: SUZ12-related overgrowth disorder.
Journal: Clinical genetics
Published: October 22, 2022
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Journal: Genomics
Published: June 23, 2022
Intellectual disability and microcephaly associated with a novel CHAMP1 mutation.
Journal: Human genome variation
Published: May 22, 2021
Head titubation and irritability as early symptoms of Joubert syndrome with a homozygous NPHP1 variant.
Journal: Brain & development
Published: February 01, 2021
Nonsense variants of STAG2 result in distinct congenital anomalies.
Journal: Human genome variation
Published: June 23, 2020
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Journal: Human mutation
Published: June 20, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.
Journal: Journal of human genetics
Published: June 16, 2020
Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
Journal: Journal of human genetics
Published: June 11, 2020
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Journal: Journal of human genetics
Published: July 15, 2019
Last Updated: 09/26/2026