Document & Publications


This project has been completed and these resources are no longer updated


Peer-Reviewed Journal Articles:

  • Christopher J. Stille, MD, MPH; Shira H. Fischer, MD, PhD; Nancy La Pelle, PhD; Beth Dworetzky, MS; Kathleen M. Mazor, EdD; W. Carl Cooley, MD. Parent Partnerships in Communication and Decision Making. Academic Pediatrics. March-April 2013; 13(2):122-132.
  • Waisbren SE, et al; The adult galactosemic phenotype. J Inherit Metab Dis. 2012,Mar;35(2):279-86.
  • Stille CJ, Fischer SH, LaPelle N, Dworetzky B, Mazor KM, Cooley WC. Parent partnerships in communication and decision making about subspecialty referrals for children with special needs. Academic Pediatrics, In press.
  • Cooley WC, Kemper AR, NCC Medical Home Workgroup.  An Approach to Family-Centered Coordinated Co-management for Individuals with Conditions Identified through Newborn Screening. Genetics in Medicine, 2012, in press
  • Fanos, Joanna. New “first families”: the psychological impact of new genetic technologies. Genetics in Medicine, 2012 Feb;14(2):189-90.
  • Kemper AR, Kus CA, Ostrander RA, Comeau AM, Boyle CA, Dougherty D, Mann MY, Botkin JR, Green NS. A framework for key considerations regarding point-of-care screening of newborns. Genetics in Medicine, 2012 Nov;130:e1269-77.


  • Quality improvement in the clinical genetic evaluation of patients referred for global developmental delays/intellectual disabilities or autism. Presented at the American College of Medical Genetics Annual Meeting on March 19-23, 2013 in Phoenix, AZ  by Moeschler JB, McClain MR, Burke LW, Dinulos MB, Smith R, Smith W, Miller P. 
  • Genetics Education Materials for School Success(GEMSS). Presented at the 13th International Williams Syndrome Conference, July 2012 in Boston, MA.  by Giummo C.  
  • Caring for patients with metabolic disorders from positive newborn screen to year 1: provider workload, workflow, and issues for the medical genetics workforce. Presented at the Association of American Medical Colleges Physician Workforce Research Conference, May 3-4 2012, in Washington, DC  by McGrath RJ, Stransky M, Benkendorf J.  
  • The New England metabolic centers program to improve care for patients with inherited metabolic disorders. Presented at Society for Inherited Metabolic Disorders Annual Meeting, March 31 – April 3, 2012 in Charlotte, NC  by Smith W, Martin M, Greenstein RM, Korson M, Levy H, Waisbren SE, Moeschler JB, Cooley WC, McAllister JW, Antal P, McClain MR.  
  • Genetics education materials for school success: a guide for the classroom for children with genetic conditions. Presented at the American College of Medical Genetics Annual Meeting, March 27-31, 2012, in Charlotte, NC  by Burke LW, Burke B, Dillon AD, Giummo C, Larson F, Lavochkin M, Mulcahy E, Smith W, Tutko H, Williams-Edwards D.