Sally A. Hulton

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 · 694 citations

Medicine, Genetics, Molecular Genetics +13

Lumasiran, an RNAi Therapeutic for Primary Hyperoxaluria Type 1

Sander F. Garrelfs, Yaacov Frishberg, Sally A. Hulton et al. · New England Journal of Medicine · 2021 · 495 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +10

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

Annabel N. Smith, Jennifer Skaug, Keith A. Choate et al. · Nature Genetics · 2000 · 420 citations

Medicine, Genetics, Molecular Genetics +11

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment

Pierre Cochat, Sally A. Hulton, Cécile Acquaviva et al. · Nephrology Dialysis Transplantation · 2012 · 335 citations · Full text

Medicine, Biochemistry, Nephrology +17

Mutations in the chloride-bicarbonate exchanger gene <i>AE1</i> cause autosomal dominant but not autosomal recessive distal renal tubular acidosis

Fiona E. Karet, Á. Z. Györy, Robert J. Unwin et al. · Proceedings of the National Academy of Sciences · 1998 · 274 citations · Full text

Medicine, Genetics, Molecular Genetics +15