Featured Publications

2017

  • Reidy, P. F., Kristensen, K., Winn, M. B., Litovsky, R. Y., & Edwards, J. R. (in press). The acoustics of word-initial fricatives and their effect on word-level intelligibility in children with bilateral cochlear implants, Ear & Hearing.
  • Esbensen, A.,; MacLean, W.E., Jr., (2017). Down syndrome. In M. L. Wehmeyer, I. Brown, M. Percy, K.A. Shogren, & A. Fung (Eds.), A comprehensive guide to intellectual and developmental disabilities (2nd ed., pp.195-208). Baltimore: Brookes.
  • Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM. Am J Med Genet A. 2017 Apr;173(4):1097-1101. doi: 10.1002/ajmg.a.38141. Epub 2017 Feb 9.

2016

  • McCrory NM, Edick MJ, Ahmad A, Lipinski S, Scott Schwoerer JA, et al. (Inborn Errors of Metabolism Collaborative.)  Comparison methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation.  J Pediatr. 2017 Jan; 180:200-205.e8. doi: 10.1016/j.jpeds.2016.09.050. Epub 2016 Oct 21.
  • Balestrini S, Milh M, Castiglioni C, Luthy K, Finelli MJ, Verstreken P, Cardon A, Strazisar BG, Holder JL Jr, Lesca G, Mancardi MM, Poulat AL, Repetto GM, Banka S, Bilo L, Birkeland LE, Bosch F, Brockmann K, Cross JH, Doummar D, Felix TM, Giuliano F, Hori M, Huning I, Kayserili H, Kini U, Lees MM, Meenakshi G, Mewasingh L, Pagnamenta AT, Peluso S, Mey A, Rice GM, et al. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features. Neuro. 2016 Jul 5; 87(1):77-85. doi 10.1212/WNL.0000000000002807. Epub 2016 Jun 8. PMID:27281533
  • Stroup BM, Held PK, Williams P, Clayton MK, Murali SG, Rice GM, Ney DM. Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in subjects with phenylketonuria. Mol Genet Metab Rep. 2016 Jan 16; 6:21-6; doi: 10.1016/j.ymgmr.2016.01.001. eCollection 2016 Mar. PMID: 27014575. 
  • Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA. Thomas J, Dodge M, Singh R, Lakshman S, Coakley K, Stembridge A, Russi AS, Phillips E, Burton B, Edano C, Shrestha S, Hoganson G, Dwyer L, Hainline B, Romie S, Hainline S, Asamoah A, Goodin K, Rajakaruna C, Jackson K, Hamosh A, Vernon H, Smith N, Ahmad A, Lipinski S, Feldman G, Berry S, Elsbecker S, Font-Montgomery E, Peck D, Pena LD, Koeberl DD, Jiang YH, Kishnani PS, Rizzo W, Dawson M, Ambrose N, Levy P, Kronn D, Fong CT, D'Aco K, Hart T, Erbe R, Samons M, Leslie N, Powers R, Bartholomew D, Goff M, vanCalcar S, Hansen J, Arnold G, Vockley J, Walsh-Vockley C, Rhead W, Dimmock D, Engelking P, Bird C, Swan A, Schwoerer JS, et al. (Inborn Errors of Metabolism Collaborative.)  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. Mol Genet Metab. 2016 Jul 15. pii: S1096-7192(16)30124-X. doi: 10.1016/j.ymgme.2016.07.002. [Epub ahead of print]
  • Kuhl A, Van Calcar S, Baker M, Seroogy CM, Spicer G, Rice G, Scott Schwoerer J. Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population. Genet Med. 2016 Aug 11; doi: 10.1038/gim.2016.104. [Epub ahead of print] PMID: 27513192.
  • Scott Schwoerer J, Van Calcar S, Rice GM, Deline J. Successful pregnancy and delivery in a woman with propionic acidemia from the Amish community. Mol Gen and Met Rep; 2016 Sep; 8: 4–7; doi: 10.1016/j.ymgmr.2016.05.003.
  • Nicholas M. McCrory, BA, Mathew J. Edick, PhD, Ayesha Ahmad, MD, Susan Lipinski, RD, Jessica A. Scott-Schwoerer, MD,  Shaohui Zhai, PhD, Loren D.M. Pena, MD, PhD, Cynthia A. Cameron, PhD, Susan A. Berry, MD,  for the Inborn Errors of Metabolism Collaborative Comparison of methods of initial ascertainment in 58 cases of propionic acidemia enrolled in the Inborn Errors of Metabolism Information System reveals significant differences in time to evaluation and symptoms at presentation.  J Pediatr. 2016 Oct 21. pii: S0022-3476(16)31033-2. doi: 10.1016/j.jpeds.2016.09.050. [Epub ahead of print] PMID:27776753
  • Legare JM, Modaff P, Iskandar BL, Pauli RM.  Syringomyelia in hereditary multiple exostosis.   American Journal of Medical Genetics A. 2016; Nov;170(11):2956-2959. doi: 10.1002/ajmg.a.37854. Epub 2016 Aug 2.
  • Cottle, K.J., McMahon, W.M. & Farley, M.(2016). Adults with autism spectrum disorders: Past, present, and future. In S.D. Wright (Ed.), Autism spectrum disorder in mid and later life. (pp. 30-51).Philadelphia, PA: Jessica Kingsley Publishers.
  • Jones KB, Cottle K, Bakian A, Farley M, Bilder D, Coon H, McMahon WM. A description of medical conditions in adults with autism spectrum disorder: A follow-up of the 1980s Utah/UCLA Autism Epidemiologic Study. Autism. 2016 Jul;20(5):551-61. 

2015

2014