Hans Christian Hennies

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Heiko Witt, W. A. P. Luck, Hans Christian Hennies et al. · Nature Genetics · 2000 · 1K citations

Chronic Pancreatitis, Pancreatic Cancer, Pancreatic Fluid Collection +8

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

John A. Sayer, Edgar A. Otto, John F. O’Toole et al. · Nature Genetics · 2006 · 572 citations

Transcription Factor Atf4, Transcriptional Regulation, Developmental Biology +10

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Bernward Hinkes, Roger C. Wiggins, Rasheed Gbadegesin et al. · Nature Genetics · 2006 · 557 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

Udo zur Stadt, Jan Rohr, Wenke Seifert et al. · The American Journal of Human Genetics · 2009 · 411 citations · Full text

Impaired Binding, Mendelian Disorder, Autoimmune Disease +11

Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

Sven Cichon, Ludovic Martin, Hans Christian Hennies et al. · The American Journal of Human Genetics · 2006 · 324 citations · Full text

Thrombosis, Vascular Disease, Autoimmune Disease +11