selected publications
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Clinical sequencing of the retinitis pigmentosa gene RPGR in over 1,000 cases of vision loss.
Molecular vision.
2024
Academic Article
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Times cited: 1 -
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Human mutation.
2024
Academic Article
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Times cited: 12 - The qMini assay identifies an overlooked class of splice variants. 2023 GET IT
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Investigation into the genetics of fetal congenital lymphatic anomalies.
Prenatal diagnosis.
2023
Academic Article
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Times cited: 18 -
Modeling of Effective Antimicrobials to Reduce Staphylococcus aureus Virulence Gene Expression Using a Two-Compartment Hollow Fiber Infection Model.
Toxins.
2020
Academic Article
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Times cited: 6 -
A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.
2020
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Times cited: 2 -
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Human genome variation.
2019
Academic Article
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Times cited: 3 -
Virulence factor landscape of a Staphylococcus aureus sequence type 45 strain, MCRF184.
BMC genomics.
2019
Academic Article
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Times cited: 10 -
Regulation of Staphylococcal Superantigen-Like Gene, ssl8, Expression in Staphylococcus aureus strain, RN6390.
Clinical medicine & research.
2014
Academic Article
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Times cited: 9 -
Elevated serum interleukin-10 at time of hospital admission is predictive of mortality in patients with Staphylococcus aureus bacteremia.
The Journal of infectious diseases.
2012
Academic Article
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Times cited: 99 -
Comparative whole-genome mapping to determine Staphylococcus aureus genome size, virulence motifs, and clonality.
Journal of clinical microbiology.
2012
Academic Article
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Times cited: 19 -
Simulated antibiotic exposures in an in vitro hollow-fiber infection model influence toxin gene expression and production in community-associated methicillin-resistant Staphylococcus aureus strain MW2.
Antimicrobial agents and chemotherapy.
2011
Academic Article
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Times cited: 24 -
Evidence of multiple virulence subtypes in nosocomial and community-associated MRSA genotypes in companion animals from the upper midwestern and northeastern United States.
Clinical medicine & research.
2010
Academic Article
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Times cited: 66 -
Staphylococcal superantigen-like genes, ssl5 and ssl8, are positively regulated by Sae and negatively by Agr in the Newman strain.
FEMS microbiology letters.
2010
Academic Article
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Times cited: 28