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  • J Fang, Susan L. Dagenais, +5 authors Thomas W. Glover
  • Medicine, Biology
  • American journal of human genetics
  • 2000 (First Publication: 1 December 2000)
  • Lymphedema-distichiasis (LD) is an autosomal dominant disorder that classically presents as lymphedema of the limbs, with variable age at onset, and double rows of eyelashes (distichiasis). OtherExpand
  • Michael F Olson, N.German Pasteris, Jerome L. Gorski, Alan Geoffrey Hall
  • Biology, Medicine
  • Current Biology
  • 1996 (First Publication: 1 December 1996)
  • BACKGROUND Dbl, a guanine nucleotide exchange factor (GEF) for members of the Rho family of small GTPases, is the prototype of a family of 15 related proteins. The majority of proteins that contain aExpand
  • Peng Hou, L Estrada, Andrew Kinley, John T. Parsons, Anne B. Vojtek, Jerome L. Gorski
  • Biology, Medicine
  • Human molecular genetics
  • 2003 (First Publication: 1 July 2003)
  • FGD1 mutations result in Faciogenital Dysplasia (FGDY), an X-linked human disease that affects skeletal formation and embryonic morphogenesis. FGD1 and Fgd1, the mouse FGD1 ortholog, encode guanineExpand
  • N J Nesslinger, Jerome L. Gorski, +6 authors Heather E. McDermid
  • Biology, Medicine
  • American journal of human genetics
  • 1994 (First Publication: 1 March 1994)
  • We have studied seven patients who have chromosome 22q13.3 deletions as revealed by high-resolution cytogenetic analysis. Clinical evaluation of the patients revealed a common phenotype that includesExpand
  • Jerome L. Gorski, Mildred L. Kistenmacher, Hope H. Punnett, Elaine H. Zackai, Beverly S. Emanuel
  • Biology, Medicine
  • American journal of medical genetics
  • 1988 (First Publication: 1 February 1988)
  • We have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements involving at least three chromosomes andExpand
  • N. German Pasteris, A. B. Cadle, L J Logie, Mary E M Porteous, Jerome L. Gorski
  • Medicine, Biology
  • Cell
  • 1994 (First Publication: 1 November 1994)
  • Faciogenital dysplasia (FGDY), also known as Aarskog-Scott syndrome, is an X-linked developmental disorder characterized by disproportionately short stature and by facial, skeletal, and urogenitalExpand