Professor of Pediatrics, Geisel School of Medicine, Dartmouth College
Section Chief, Medical Genetics, Dartmouth Hitchcock Medical Center
Board Certification: American Board of Pediatrics (No. 25585) 1981
American Board of Medical Genetics (No. 1776) 1984
Selected recent publications:
1. Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S.Evidence
report: Genetic and metabolic testing on children with global developmental
delay: report of the Quality Standards Subcommittee of the American Academy of
Neurology and the Practice Committee of the Child Neurology Society.Neurology.
2011 Oct 25;77(17):1629-35. doi: 10.1212/WNL.0b013e3182345896. Epub 2011 Sep 28.
Review.PubMed [citation] PMID: 21956720
2. Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia
Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ,
Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D,
Beckmann JS, Asamoah A, et al.Recurrent deletions and reciprocal duplications of
10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy
repeats.Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov
2.PubMed [citation] PMID: 21948486
3. McGrath RJ, Stransky ML, Cooley WC, Moeschler JB.National profile of children
with Down syndrome: disease burden, access to care, and family impact.J Pediatr.
2011 Oct;159(4):535-40.e2. doi: 10.1016/j.jpeds.2011.04.019. Epub 2011 Jun
12.PubMed [citation] PMID: 21658713
4. Graham JM Jr, Clark RD, Moeschler JB, Rogers RC.Behavioral features in young
adults with FG syndrome (Opitz-Kaveggia syndrome).Am J Med Genet C Semin Med
Genet. 2010 Nov 15;154C(4):477-85. doi: 10.1002/ajmg.c.30284. Review.PubMed
[citation] PMID: 20981778, PMCID: PMC2967396
5. Girirajan S, Rosenfeld JA, Cooper GM, Antonacci F, Siswara P, Itsara A, Vives L,
Walsh T, McCarthy SE, Baker C, Mefford HC, Kidd JM, Browning SR, Browning BL,
Dickel DE, Levy DL, Ballif BC, Platky K, Farber DM, Gowans GC, Wetherbee JJ,
Asamoah A, et al.A recurrent 16p12.1 microdeletion supports a two-hit model for
severe developmental delay.Nat Genet. 2010 Mar;42(3):203-9. doi: 10.1038/ng.534.
Epub 2010 Feb 14.PubMed [citation] PMID: 20154674, PMCID: PMC2847896
6. McGrath RJ, Laflamme DJ, Schwartz AP, Stransky M, Moeschler JB.Access to genetic
counseling for children with autism, Down syndrome, and intellectual
disabilities.Pediatrics. 2009 Dec;124 Suppl 4:S443-9. doi:
10.1542/peds.2009-1255Q.PubMed [citation] PMID: 19948611
7. Clark RD, Graham JM Jr, Friez MJ, Hoo JJ, Jones KL, McKeown C, Moeschler JB,
Raymond FL, Rogers RC, Schwartz CE, Battaglia A, Lyons MJ, Stevenson RE.FG
syndrome, an X-linked multiple congenital anomaly syndrome: the clinical
phenotype and an algorithm for diagnostic testing.Genet Med. 2009
Nov;11(11):769-75. doi: 10.1097/GIM.0b013e3181bd3d90.PubMed [citation] PMID:
19938245
8. Moeschler JB, Amato RS, Brewster T, Burke L, Dinulos MB, Smith R, Smith W, Miller
P.Improving genetic health care: a Northern New England pilot project addressing
the genetic evaluation of the child with developmental delays or intellectual
disability.Am J Med Genet C Semin Med Genet. 2009 Aug 15;151C(3):241-54. doi:
10.1002/ajmg.c.30221.PubMed [citation] PMID: 19621460
