Hugh J. McCarthy

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest et al. · Kidney International · 2017 · 288 citations · Full text

Medicine, Molecular Genetics, Nephrology +14

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock et al. · Clinical Journal of the American Society of Nephrology · 2013 · 174 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Initial Steroid Sensitivity in Children with Steroid-Resistant Nephrotic Syndrome Predicts Post-Transplant Recurrence

Wen Y. Ding, Ania Koziell, Hugh J. McCarthy et al. · Journal of the American Society of Nephrology · 2014 · 125 citations

Medicine, Nephrology, Pediatrics +17

Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome

Lwaki Ebarasi, Shazia Ashraf, Agnieszka Bierżyńska et al. · The American Journal of Human Genetics · 2014 · 124 citations · Full text

Medicine, Nephrology, Pathobiology +10

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 104 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17