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Items: 1 to 20 of 73

1.

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.

Rosenfeld JA, Fox JE, Descartes M, Brewer F, Stroud T, Gorski JL, Upton SJ, Moeschler JB, Monteleone B, Neill NJ, Lamb AN, Ballif BC, Shaffer LG, Ravnan JB.

Am J Med Genet A. 2015 Feb;167A(2):345-53.

PMID:
25756153
2.

16p12.2 Microdeletion.

Girirajan S, Moeschler J, Rosenfeld J.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2015 Feb 26.

3.

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Brookes E, Laurent B, ├Ľunap K, Carroll R, Moeschler JB, Field M, Schwartz CE, Gecz J, Shi Y.

Hum Mol Genet. 2015 May 15;24(10):2861-72. doi: 10.1093/hmg/ddv046. Epub 2015 Feb 9.

4.

Geospatial association between adverse birth outcomes and arsenic in groundwater in New Hampshire, USA.

Shi X, Ayotte JD, Onda A, Miller S, Rees J, Gilbert-Diamond D, Onega T, Gui J, Karagas M, Moeschler J.

Environ Geochem Health. 2015 Apr;37(2):333-51. doi: 10.1007/s10653-014-9651-2. Epub 2014 Oct 19.

5.

Comprehensive evaluation of the child with intellectual disability or global developmental delays.

Moeschler JB, Shevell M; Committee on Genetics.

Pediatrics. 2014 Sep;134(3):e903-18. doi: 10.1542/peds.2014-1839. Review.

6.

6q22.1 microdeletion and susceptibility to pediatric epilepsy.

Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR.

Eur J Hum Genet. 2015 Feb;23(2):173-9. doi: 10.1038/ejhg.2014.75. Epub 2014 May 14.

7.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

van Karnebeek CD, Shevell M, Zschocke J, Moeschler JB, Stockler S.

Mol Genet Metab. 2014 Apr;111(4):428-38. doi: 10.1016/j.ymgme.2014.01.011. Epub 2014 Jan 24. Review.

8.

Mapping disease at an approximated individual level using aggregate data: a case study of mapping New Hampshire birth defects.

Shi X, Miller S, Mwenda K, Onda A, Reese J, Onega T, Gui J, Karagas M, Demidenko E, Moeschler J.

Int J Environ Res Public Health. 2013 Sep 6;10(9):4161-74. doi: 10.3390/ijerph10094161.

9.

The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.

Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB.

Am J Med Genet A. 2013 Aug;161A(8):1833-52. doi: 10.1002/ajmg.a.35996. Epub 2013 Jun 27.

10.

Neurodevelopmental disorders and genetic testing: current approaches and future advances.

Sherr EH, Michelson DJ, Shevell MI, Moeschler JB, Gropman AL, Ashwal S.

Ann Neurol. 2013 Aug;74(2):164-70. doi: 10.1002/ana.23950. Review.

PMID:
23775934
11.

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators.

Eur J Pediatr. 2013 Jul;172(7):965-70. doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7.

12.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

Rosenfeld JA, Traylor RN, Schaefer GB, McPherson EW, Ballif BC, Klopocki E, Mundlos S, Shaffer LG, Aylsworth AS; 1q21.1 Study Group.

Eur J Hum Genet. 2012 Jul;20(7):754-61. doi: 10.1038/ejhg.2012.6. Epub 2012 Feb 8.

13.

So what? Does the test lead to improved health outcomes?

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S, Trevathan E.

Neurology. 2012 Feb 7;78(6):440-1; author reply 441-2. doi: 10.1212/WNL.0b013e318248042c. No abstract available.

PMID:
22311931
14.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.

Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.

Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.

15.

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG.

Neurogenetics. 2012 Feb;13(1):31-47. doi: 10.1007/s10048-011-0306-5. Epub 2012 Jan 5.

PMID:
22218741
16.

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.

Michelson DJ, Shevell MI, Sherr EH, Moeschler JB, Gropman AL, Ashwal S.

Neurology. 2011 Oct 25;77(17):1629-35. doi: 10.1212/WNL.0b013e3182345896. Epub 2011 Sep 28. Review.

PMID:
21956720
17.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

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, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.

Hum Mutat. 2012 Jan;33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2.

18.

National profile of children with Down syndrome: disease burden, access to care, and family impact.

McGrath RJ, Stransky ML, Cooley WC, Moeschler JB.

J Pediatr. 2011 Oct;159(4):535-40.e2. doi: 10.1016/j.jpeds.2011.04.019. Epub 2011 Jun 12.

PMID:
21658713
19.
20.

Invited comment on terminology.

Moeschler JB, Nisbeft J.

Am J Med Genet A. 2011 May;155A(5):972-3. doi: 10.1002/ajmg.a.33830. Epub 2011 Mar 15. No abstract available.

PMID:
21412970

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