Hulton, Sally Anne

Top Publications

Top Publications Authored or Co-Authored by "Hulton, Sally Anne"

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

  Nature Genetics, Volume 21, No. 1, Year 1999, Citations 678
• Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing

  Nature Genetics, Volume 26, No. 1, Year 2000, Citations 418
• Novel ATP6V1B1 and ATP6V0a4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

  Journal of Medical Genetics, Volume 39, No. 11, Year 2002, Citations 290
• Lumasiran, an RNAi therapeutic for primary hyperoxaluria type 1

  New England Journal of Medicine, Volume 384, No. 13, Year 2021, Citations 213
• Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34

  American Journal of Human Genetics, Volume 65, No. 6, Year 1999, Citations 102