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Items: 1 to 50 of 93

1.

The genetics of isolated and syndromic clubfoot.

Sadler B, Gurnett CA, Dobbs MB.

J Child Orthop. 2019 Jun 1;13(3):238-244. doi: 10.1302/1863-2548.13.190063.

2.

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA.

J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25.

3.

Mutations in Kinesin family member 6 reveal specific role in ependymal cell ciliogenesis and human neurological development.

Konjikusic MJ, Yeetong P, Boswell CW, Lee C, Roberson EC, Ittiwut R, Suphapeetiporn K, Ciruna B, Gurnett CA, Wallingford JB, Shotelersuk V, Gray RS.

PLoS Genet. 2018 Nov 26;14(11):e1007817. doi: 10.1371/journal.pgen.1007817. eCollection 2018 Nov.

4.

Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci.

Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, Kere J, Grauers A, Johnson TA, Paria N, Patel C, Singhania R, Kamiya N, Takeda K, Otomo N, Watanabe K, Luk KDK, Cheung KMC, Herring JA, Rios JJ, Ahituv N, Gerdhem P, Gurnett CA, Song YQ, Ikegawa S, Wise CA.

Hum Mol Genet. 2018 Nov 15;27(22):3986-3998. doi: 10.1093/hmg/ddy306.

5.

A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.

Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, Whittle J, Upshaw Z, Shin J, Baschal E, Cruchaga C, Harms M, Raggio C, Morcuende JA, Giampietro P, Miller NH, Wise C, Gray RS, Solnica-Krezel L, Knutson M, Dobbs MB, Gurnett CA.

Nat Commun. 2018 Oct 9;9(1):4171. doi: 10.1038/s41467-018-06705-0.

6.

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants.

Rogers A, Golumbek P, Cellini E, Doccini V, Guerrini R, Wallgren-Pettersson C, Thuresson AC, Gurnett CA.

Am J Med Genet A. 2018 Aug;176(8):1748-1752. doi: 10.1002/ajmg.a.38840. Epub 2018 Jul 28.

PMID:
30055040
7.

Summary of the first inaugural joint meeting of the International Consortium for scoliosis genetics and the International Consortium for vertebral anomalies and scoliosis, March 16-18, 2017, Dallas, Texas.

Giampietro PF, Pourquie O, Raggio C, Ikegawa S, Turnpenny PD, Gray R, Dunwoodie SL, Gurnett CA, Alman B, Cheung K, Kusumi K, Hadley-Miller N, Wise CA.

Am J Med Genet A. 2018 Jan;176(1):253-256. doi: 10.1002/ajmg.a.38550. Epub 2017 Nov 21.

8.

Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

Pilarowski GO, Vernon HJ, Applegate CD, Boukas L, Cho MT, Gurnett CA, Benke PJ, Beaver E, Heeley JM, Medne L, Krantz ID, Azage M, Niyazov D, Henderson LB, Wentzensen IM, Baskin B, Sacoto MJG, Bowman GD, Bjornsson HT.

J Med Genet. 2018 Aug;55(8):561-566. doi: 10.1136/jmedgenet-2017-104759. Epub 2017 Sep 2.

9.

Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis.

Haller G, Zabriskie H, Spehar S, Kuensting T, Bledsoe X, Syed A, Gurnett CA, Dobbs MB.

J Pediatr Orthop B. 2018 Mar;27(2):152-158. doi: 10.1097/BPB.0000000000000489.

10.

Scoliosis severity does not impact the risk of scoliosis in family members.

Rudnick SB, Zabriskie H, Ho J, Gurnett CA, Dobbs MB.

J Pediatr Orthop B. 2018 Mar;27(2):147-151. doi: 10.1097/BPB.0000000000000473.

11.

The 2017 ABJS Nicolas Andry Award: Advancing Personalized Medicine for Clubfoot Through Translational Research.

Dobbs MB, Gurnett CA.

Clin Orthop Relat Res. 2017 Jun;475(6):1716-1725. doi: 10.1007/s11999-017-5290-0. Epub 2017 Feb 24.

12.

Massively parallel single-nucleotide mutagenesis using reversibly terminated inosine.

Haller G, Alvarado D, McCall K, Mitra RD, Dobbs MB, Gurnett CA.

Nat Methods. 2016 Nov;13(11):923-924. doi: 10.1038/nmeth.4015. Epub 2016 Oct 3.

13.

Design and descriptive data of the randomized Clubfoot Foot Abduction Brace Length of Treatment Study (FAB24).

Dobbs MB, Frick SL, Mosca VS, Raney E, VanBosse HJ, Lerman JA, Talwalkar VR, Steger-May K, Gurnett CA.

J Pediatr Orthop B. 2017 Mar;26(2):101-107. doi: 10.1097/BPB.0000000000000387.

PMID:
27632641
14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

Adolescent idiopathic scoliosis.

Cheng JC, Castelein RM, Chu WC, Danielsson AJ, Dobbs MB, Grivas TB, Gurnett CA, Luk KD, Moreau A, Newton PO, Stokes IA, Weinstein SL, Burwell RG.

Nat Rev Dis Primers. 2015 Sep 24;1:15030. doi: 10.1038/nrdp.2015.30. Review.

PMID:
27188385
20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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.

26.

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
27.

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.

28.

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
29.

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.

30.

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
31.

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
32.

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.

33.

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.

34.

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.

35.

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.

Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT.

Am J Med Genet A. 2011 Sep;155A(9):2170-9. doi: 10.1002/ajmg.a.34167. Epub 2011 Aug 10.

36.

Genetics of clubfoot.

Dobbs MB, Gurnett CA.

J Pediatr Orthop B. 2012 Jan;21(1):7-9. doi: 10.1097/BPB.0b013e328349927c. Review.

37.

Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.

Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA.

Hum Mol Genet. 2011 Oct 15;20(20):3943-52. doi: 10.1093/hmg/ddr313. Epub 2011 Jul 20.

38.

Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.

McGregor TL, Gurnett CA, Dobbs MB, Wise CA, Morcuende JA, Morgan TM, Menon R, Muglia LJ.

BMC Med Genet. 2011 Jul 8;12:92. doi: 10.1186/1471-2350-12-92.

39.

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function.

Paciorkowski AR, Thio LL, Rosenfeld JA, Gajecka M, Gurnett CA, Kulkarni S, Chung WK, Marsh ED, Gentile M, Reggin JD, Wheless JW, Balasubramanian S, Kumar R, Christian SL, Marini C, Guerrini R, Maltsev N, Shaffer LG, Dobyns WB.

Eur J Hum Genet. 2011 Dec;19(12):1238-45. doi: 10.1038/ejhg.2011.121. Epub 2011 Jun 22.

40.

Re: Ward K, Ogilvie JW, Singleton MV, et al. Validation of DNA-based prognostic testing to predict spinal curve progression in adolescent idiopathic scoliosis. Spine 2010;35:E1455-64.

Dobbs MB, Gurnett CA.

Spine (Phila Pa 1976). 2011 Jul 1;36(15):1257; author reply 1257. doi: 10.1097/BRS.0b013e31821987ba. No abstract available.

PMID:
21691188
41.

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.

Alvarado DM, Buchan JG, Gurnett CA, Dobbs MB.

J Bone Joint Surg Am. 2011 Jun 1;93(11):1045-50. doi: 10.2106/JBJS.J.02004.

42.

Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.

Jorge BS, Campbell CM, Miller AR, Rutter ED, Gurnett CA, Vanoye CG, George AL Jr, Kearney JA.

Proc Natl Acad Sci U S A. 2011 Mar 29;108(13):5443-8. doi: 10.1073/pnas.1017539108. Epub 2011 Mar 14.

43.

Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.

Sharma S, Gao X, Londono D, Devroy SE, Mauldin KN, Frankel JT, Brandon JM, Zhang D, Li QZ, Dobbs MB, Gurnett CA, Grant SF, Hakonarson H, Dormans JP, Herring JA, Gordon D, Wise CA.

Hum Mol Genet. 2011 Apr 1;20(7):1456-66. doi: 10.1093/hmg/ddq571. Epub 2011 Jan 7.

44.

Novel genetic findings in an extended family pedigree with sleepwalking.

Licis AK, Desruisseau DM, Yamada KA, Duntley SP, Gurnett CA.

Neurology. 2011 Jan 4;76(1):49-52. doi: 10.1212/WNL.0b013e318203e964.

45.

Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot.

Merrill LJ, Gurnett CA, Siegel M, Sonavane S, Dobbs MB.

Clin Orthop Relat Res. 2011 May;469(5):1442-9. doi: 10.1007/s11999-010-1657-1. Epub 2010 Nov 2.

46.

Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.

Shyy W, Wang K, Gurnett CA, Dobbs MB, Miller NH, Wise C, Sheffield VC, Morcuende JA.

J Pediatr Orthop. 2010 Sep;30(6):539-43. doi: 10.1097/BPO.0b013e3181e7902c.

47.

Skeletal muscle abnormalities and genetic factors related to vertical talus.

Merrill LJ, Gurnett CA, Connolly AM, Pestronk A, Dobbs MB.

Clin Orthop Relat Res. 2011 Apr;469(4):1167-74. doi: 10.1007/s11999-010-1475-5. Epub 2010 Jul 20.

48.

Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.

Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA.

Am J Hum Genet. 2010 Jul 9;87(1):154-60. doi: 10.1016/j.ajhg.2010.06.010.

49.

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.

Mefford HC, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C, Franke A, Malafosse A, Genton P, Thomas P, Gurnett CA, Schreiber S, Bassuk AG, Guipponi M, Stephani U, Helbig I, Eichler EE.

PLoS Genet. 2010 May 20;6(5):e1000962. doi: 10.1371/journal.pgen.1000962.

50.

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB.

Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.

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