Fiona E. Karet

Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

David B. Simon, Carol Nelson‐Williams, Margaret J. Bia et al. · Nature Genetics · 1996 · 1.2K citations

Physiology, Pathology, Hypokalaemic Alkalosis +3

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na–K–2CI cotransporter NKCC2

David B. Simon, Fiona E. Karet, Jahed M. Hamdan et al. · Nature Genetics · 1996 · 899 citations

Na–k–2ci Cotransporter Nkcc2, Electrolyte Disorder, Sodium Homeostasis +7

Genetic heterogeneity of Barter's syndrome revealed by mutations in the K+ channel, ROMK

David B. Simon, Fiona E. Karet, Juan Rodríguez‐Soriano et al. · Nature Genetics · 1996 · 820 citations

Mendelian Disorder, Genetic Disorder, Genetics +7

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

Fiona E. Karet, Karin E. Finberg, Raoul D. Nelson et al. · Nature Genetics · 1999 · 681 citations

Renal Function, Molecular Physiology, Biochemistry +8

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Lynn M. Boyden, Murim Choi, Keith A. Choate et al. · Nature · 2012 · 625 citations

Molecular Physiology, Genetics, Physiology +7