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  • Sandra Hanks, Sarah Adams, +18 authors Nazneen Rahman
  • Medicine, Biology
  • American journal of human genetics
  • 2003 (First Publication: 1 October 2003)
  • Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, jointContinue Reading
  • Cynthia F Bartels, Hulya Bükülmez, +22 authors Matthew L Warman
  • Medicine, Biology
  • American journal of human genetics
  • 2004 (First Publication: 1 July 2004)
  • The homodimeric transmembrane receptor natriuretic peptide receptor B (NPR-B [also known as guanylate cyclase B, GC-B, and GUC2B]; gene name NPR2) produces cytoplasmic cyclic GMP from GTP on bindingContinue Reading
  • Derek E. Neilson, Mark D. Adams, +35 authors Matthew L Warman
  • Medicine, Biology
  • American journal of human genetics
  • 2009
  • Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANEContinue Reading
  • Kimihiko Sawakami, Alexander G Robling, +9 authors C. H. Turner
  • Biology, Medicine
  • Journal of Biological Chemistry
  • 2006 (First Publication: 18 August 2006)
  • The cell surface receptor, low-density lipoprotein receptor-related protein 5 (LRP5) is a key regulator of bone mass. Loss-of-function mutations in LRP5 cause the human skeletal diseaseContinue Reading