Sly, William S.

Top Publications

Top Publications Authored or Co-Authored by "Sly, William S."

• Carbonic Anhydrase II Deficiency in 12 Families with the Autosomal Recessive Syndrome of Osteopetrosis with Renal Tubular Acidosis and Cerebral Calcification

  New England Journal of Medicine, Volume 313, No. 3, Year 1985, Citations 303
• Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa

  Proceedings of the National Academy of Sciences of the United States of America, Volume 101, No. 17, Year 2004, Citations 121
• Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII

  Gene, Volume 576, No. 1, Year 2016, Citations 77
• Carbonic anhydrase II (CA II) deficiency in Maghrebian patients: Evidence for founder effect and genomic recombination at the CA II locus

  Human Genetics, Volume 99, No. 5, Year 1997, Citations 40
• Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)

  Journal of Bone and Mineral Research, Volume 32, No. 4, Year 2017, Citations 37