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Items: 1 to 20 of 79

1.

Deletions of 5' HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus.

Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA.

J Med Genet. 2016 Apr;53(4):250-5. doi: 10.1136/jmedgenet-2015-103505. Epub 2016 Jan 4.

PMID:
26729820
2.

A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.

Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, Goate A, Willing M, Morcuende JA, Baschal E, Miller NH, Wise C, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2016 Jan 1;25(1):202-9. doi: 10.1093/hmg/ddv463. Epub 2015 Nov 12.

PMID:
26566670
3.

Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2015 Sep 2;97(17):1411-7. doi: 10.2106/JBJS.O.00290.

PMID:
26333736
4.

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ.

PLoS One. 2015 Sep 2;10(9):e0135193. doi: 10.1371/journal.pone.0135193. eCollection 2015.

5.

De novo mutations in SIK1 cause a spectrum of developmental epilepsies.

Hansen J, Snow C, Tuttle E, Ghoneim DH, Yang CS, Spencer A, Gunter SA, Smyser CD, Gurnett CA, Shinawi M, Dobyns WB, Wheless J, Halterman MW, Jansen LA, Paschal BM, Paciorkowski AR.

Am J Hum Genet. 2015 Apr 2;96(4):682-90. doi: 10.1016/j.ajhg.2015.02.013. Erratum in: Am J Hum Genet. 2015 Jun 4;96(6):1009.

6.

Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.

Baschal EE, Wethey CI, Swindle K, Baschal RM, Gowan K, Tang NL, Alvarado DM, Haller GE, Dobbs MB, Taylor MR, Gurnett CA, Jones KL, Miller NH.

G3 (Bethesda). 2014 Dec 12;5(2):167-74. doi: 10.1534/g3.114.015669.

7.

Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.

Buchan JG, Gray RS, Gansner JM, Alvarado DM, Burgert L, Gitlin JD, Gurnett CA, Goldsmith MI.

Dev Dyn. 2014 Dec;243(12):1646-57. doi: 10.1002/dvdy.24208. Epub 2014 Oct 20.

8.

Soft-Tissue Abnormalities Associated with Treatment-Resistant and Treatment-Responsive Clubfoot: Findings of MRI Analysis.

Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB.

J Bone Joint Surg Am. 2014 Aug 6;96(15):1249-1256. [Epub ahead of print]

9.

Are copy number variants associated with adolescent idiopathic scoliosis?

Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB, Gurnett CA.

Clin Orthop Relat Res. 2014 Oct;472(10):3216-25. doi: 10.1007/s11999-014-3766-8. Epub 2014 Jul 9.

10.

Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, Willing MC, Grange DK, Braverman AC, Miller NH, Morcuende JA, Tang NL, Lam TP, Ng BK, Cheng JC, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2014 Oct 1;23(19):5271-82. doi: 10.1093/hmg/ddu224. Epub 2014 May 15.

11.

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.

Alvarado DM, Yang P, Druley TE, Lovett M, Gurnett CA.

Nucleic Acids Res. 2014 Jun;42(10):e82. doi: 10.1093/nar/gku218. Epub 2014 Mar 20.

12.

Genome-wide association study identifies new disease loci for isolated clubfoot.

Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Stephens Richards B, Rice JP, Dobbs MB, Gurnett CA.

J Med Genet. 2014 May;51(5):334-9. doi: 10.1136/jmedgenet-2014-102303. Epub 2014 Mar 25.

PMID:
24667120
13.

Novel SCN3A variants associated with focal epilepsy in children.

Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA.

Neurobiol Dis. 2014 Feb;62:313-22. doi: 10.1016/j.nbd.2013.10.015. Epub 2013 Oct 21.

14.

Palliative epilepsy surgery in Aicardi syndrome: a case series and review of literature.

Kasasbeh AS, Gurnett CA, Smyth MD.

Childs Nerv Syst. 2014 Mar;30(3):497-503. doi: 10.1007/s00381-013-2259-5. Epub 2013 Aug 16.

PMID:
23948796
15.

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis.

Ha K, Buchan JG, Alvarado DM, McCall K, Vydyanath A, Luther PK, Goldsmith MI, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2013 Dec 15;22(24):4967-77. doi: 10.1093/hmg/ddt344. Epub 2013 Jul 19.

16.

BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma.

Dahiya S, Haydon DH, Alvarado D, Gurnett CA, Gutmann DH, Leonard JR.

Acta Neuropathol. 2013 Jun;125(6):901-10. doi: 10.1007/s00401-013-1120-y. Epub 2013 Apr 23.

PMID:
23609006
17.

Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect.

Kruse LM, Buchan JG, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2012 Aug 15;94(16):1485-91.

PMID:
22992817
18.

Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.

Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA.

Eur J Hum Genet. 2013 Apr;21(4):373-80. doi: 10.1038/ejhg.2012.177. Epub 2012 Aug 15.

19.

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

Lee HY, Huang Y, Bruneau N, Roll P, Roberson ED, Hermann M, Quinn E, Maas J, Edwards R, Ashizawa T, Baykan B, Bhatia K, Bressman S, Bruno MK, Brunt ER, Caraballo R, Echenne B, Fejerman N, Frucht S, Gurnett CA, Hirsch E, Houlden H, Jankovic J, Lee WL, Lynch DR, Mohammed S, Müller U, Nespeca MP, Renner D, Rochette J, Rudolf G, Saiki S, Soong BW, Swoboda KJ, Tucker S, Wood N, Hanna M, Bowcock AM, Szepetowski P, Fu YH, Ptáček LJ.

Cell Rep. 2012 Jan 26;1(1):2-12. doi: 10.1016/j.celrep.2011.11.001. Epub 2011 Dec 15.

20.

Axial distribution of myosin binding protein-C is unaffected by mutations in human cardiac and skeletal muscle.

Vydyanath A, Gurnett CA, Marston S, Luther PK.

J Muscle Res Cell Motil. 2012 May;33(1):61-74. doi: 10.1007/s10974-012-9286-9. Epub 2012 Mar 14.

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