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  • David T. Miller, Margaret P Adam, +29 authors David H. Ledbetter
  • Biology, Medicine
  • American journal of human genetics
  • 2010 (First Publication: 14 May 2010)
  • Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), orExpand
  • Sarah S Kalia, Kathy Adelman, +14 authors David T. Miller
  • Medicine
  • Genetics in Medicine
  • 2017 (First Publication: 1 February 2017)
  • Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical services. Adherence toExpand
  • Jonathan S. Berg, Nicola Brunetti-Pierri, +20 authors Sau Wai Cheung
  • Medicine
  • Genetics in Medicine
  • 2007 (First Publication: 1 July 2007)
  • Purpose: Williams-Beuren syndrome is among the most well-characterized microdeletion syndromes, caused by recurrent de novo microdeletions at 7q11.23 mediated by nonallelic homologous recombinationExpand
  • Leslie B Gordon, Monica Kleinman, +22 authors Mark W Kieran
  • Medicine
  • Proceedings of the National Academy of Sciences
  • 2012 (First Publication: 24 September 2012)
  • Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare, fatal, segmental premature aging syndrome caused by a mutation in LMNA that produces the farnesylated aberrant lamin A protein,Expand