Co-occurring Usher syndrome Type 1 and Renal Failure

H Le, H Anderson, G Lopez, J Bayer-Vile… - Retinal Cases and …, 2022 - journals.lww.com
Purpose: To describe a patient with a rare co-occurrence of Usher syndrome type 1C (USH1C)
and renal disease, suspected to be secondary to Alport syndrome. Method: Case report …

[HTML][HTML] P397: A case of congenital myasthenic syndrome with AChR deficiency due to biallelic variants in CHRNE gene

A Batheja, J Bayer-Vile, E Silverstein… - Genetics in Medicine …, 2024 - gimopen.org
Background Congenital Myasthenic Syndromes (CMS) are a collection of genetic disorders
characterized by impaired neuromuscular junction efficacy. Many CMS cases are attributed …

[HTML][HTML] P267: The essential role of genetic testing in the phenotypic heterogeneity of Stargardt disease

R Nalamalapu, J Bayer-Vile, C Leffler… - Genetics in Medicine …, 2024 - gimopen.org
Methods To investigate factors associated with a misdiagnosis in patients with Stargardt
disease, we conducted an IRB approved retrospective review of patients with molecular …

Using the Neutrophil: Lymphocyte Ratio as a Biomarker for Sepsis: Which Cutoff is Best?

J Bayer-Vile - American Society for Clinical Laboratory Science, 2018 - clsjournal.ascls.org
This study sought to evaluate the performance of the neutrophil:lymphocyte ratio (NLCR)
using cutoff values of 9, 10, 11, and 12, as an independent biomarker for sepsis. To date, no …

Genomic contraindications for heart transplantation

DS Char, G Lázaro-Muñoz, A Barnes, D Magnus… - …, 2017 - publications.aap.org
Bayer-Vile for her comments. She raises an important issue, similar to the one that we
focused upon. Whole genome sequencing (WGS) has many potential benefits. … Bayer-Vile

[PDF][PDF] Affiliate Graduate Faculty at VCU

A Abbate - graduate.vcu.edu
VCU Graduate Affiliate Faculty Page 1 Affiliate Graduate Faculty at VCU Abbate, Antonio
Professor of Medicine School of Medicine University of Virginia Abdulmalik, Osheiza Research …

[HTML][HTML] P553, P555, P862, P867, P881, P892 Aronson, Samuel P578 Arreola, Alexandra P571, P592 Arriaga, Angelica P502

V Beausejour Ladouceur - Genetics in Medicine, 2024 - gimopen.org
Bayer-Vile, Julie P267, P397 … Griffin, Julie P238 … Hathaway, Julie P577, P622 …