P. Suzanne Hart

SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis

Roland H. Pfützer, M. Michael Barmada, Andrew P. J. Brunskill et al. · Gastroenterology · 2000 · 514 citations

Pancreatic Fluid Collection, Genetics, Genetic Epidemiology +9

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

Andrew Kirby, Andreas Gnirke, David B. Jaffe et al. · Nature Genetics · 2013 · 304 citations · Full text

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

Martina Živná, Helena Hůlková, Marie Matignon et al. · The American Journal of Human Genetics · 2009 · 163 citations · Full text

Hypertension, Renal Function, Medicine +10

Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p

Meral Gunay‐Aygun, Yifat Zivony-Elboum, Fatma Gümrük et al. · Blood · 2010 · 153 citations · Full text

Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families

J. Timothy Wright, Melody Torain, Kimberly Long et al. · Cells Tissues Organs · 2011 · 138 citations · Full text

Allelic Variant, Genetic Testing, Developmental Biology +11