Stefanie Weber

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

Karl P. Schlingmann, Stefanie Weber, Melanie Peters et al. · Nature Genetics · 2002 · 775 citations

Trpm Gene Family, Natural Sciences, Genetics +8

Mutations in<i>CYP24A1</i>and Idiopathic Infantile Hypercalcemia

Karl P. Schlingmann, Martin Kaufmann, Stefanie Weber et al. · New England Journal of Medicine · 2011 · 663 citations · Full text

Mutations in the Tight-Junction Gene Claudin 19 (CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular Involvement

Martin Konrad, André Schaller, Dominik Seelow et al. · The American Journal of Human Genetics · 2006 · 511 citations · Full text

Urology, Ophthalmology, Medicine +7

NPHS2 mutation analysis shows genetic heterogeneityof steroid-resistant nephrotic syndrome and lowpost-transplant recurrence

Stefanie Weber, Olivier Gribouval, Ernie Esquivel et al. · Kidney International · 2004 · 368 citations · Full text

Urology, Kidney Transplant, Genetic Disorder +10

Novel Paracellin-1 Mutations in 25 Families with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

Stefanie Weber, Linda Schneider, Melanie Peters et al. · Journal of the American Society of Nephrology · 2001 · 269 citations