Sami A. Sanjad

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Murim Choi, Ute I. Scholl, Weizhen Ji et al. · Proceedings of the National Academy of Sciences · 2009 · 1.3K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Paracellin-1, a Renal Tight Junction Protein Required for Paracellular Mg ²⁺ Resorption

David B. Simon, Yin Lu, Keith A. Choate et al. · Science · 1999 · 1.1K citations

Life Sciences, Cell Biology, Physiology +17

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 · 907 citations

Medicine, Nephrology, Calcium Homeostasis +6

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

David B. Simon, Ranjit S. Bindra, Traci A. Mansfield et al. · Nature Genetics · 1997 · 870 citations

Life Sciences, Genetics, Molecular Genetics +13

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 · 825 citations

Life Sciences, Genetics, Molecular Genetics +12