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Cancer|June 8, 2026
Clinicopathologic characteristics of early-onset breast cancer among unselected young Black womenHeather K Beasley, Tiana Shah, Rory J Tinker, et al.
Kidney International Reports|June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial DiseaseDaniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
American Journal of Medical Genetics. Part A|May 29, 2023
The contribution of mosaicism to genetic diseases and de novo pathogenic variantsRory J Tinker, Lisa Bastarache, Kimberly Ezell, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Public Health Genomics|May 21, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn ScreeningYutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Public Health Genomics|February 17, 2026
Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024Yutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Neurogenetics|August 11, 2025
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 geneB Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
Archives of Virology|January 19, 2021
Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern BrazilRory J Tinker, Antonio Charlys da Costa, Roozbeh Tahmasebi, et al.
Viruses|May 8, 2020
Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in BrazilRoozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, et al.
The Journal of General Virology|October 12, 2020
Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformaticsRoozbeh Tahmasebi, Adriana Luchs, Kaelan Tardy, et al.
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