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

Medicine, Molecular Genetics, Pathology +5

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

Life Sciences, Genetics, Molecular Biology +6

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 · 564 citations

Medicine, Genetics, Molecular Genetics +14

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 · 415 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 · 326 citations · Full text

Medicine, Genetics, Pathology +14