John P. Johnson

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan, Jill A. Rosenfeld, Gregory M. Cooper et al. · Nature Genetics · 2010 · 669 citations · Full text

Developmental Biology, Two-hit Model, Genetics +8

Epithelial Sodium Channels Are Activated by Furin-dependent Proteolysis

Rebecca P. Hughey, James B. Bruns, Carol L. Kinlough et al. · Journal of Biological Chemistry · 2004 · 379 citations · Full text

Renal failure in the ICU: Comparison of the impact of acute renal failure and end-stage renal disease on ICU outcomes

Gilles Clermont, Christopher G. Acker, Derek C. Angus et al. · Kidney International · 2002 · 360 citations

Glomerulonephritis, Critical Care Medicine, Hemodialysis +12

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8