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 · 674 citations · Full text

Medicine, Genetics, Molecular Genetics +10

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 · 380 citations · Full text

Life Sciences, Cell Biology, Physiology +17

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 · 366 citations

Medicine, Critical Care Nursing, Nephrology +11

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 352 citations · Full text

Medicine, Biochemistry, Mass Spectrometric Analysis +16