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Items: 1 to 50 of 64

1.

Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.

McClymont SA, Hook PW, Soto AI, Reed X, Law WD, Kerans SJ, Waite EL, Briceno NJ, Thole JF, Heckman MG, Diehl NN, Wszolek ZK, Moore CD, Zhu H, Akiyama JA, Dickel DE, Visel A, Pennacchio LA, Ross OA, Beer MA, McCallion AS.

Am J Hum Genet. 2018 Dec 6;103(6):874-892. doi: 10.1016/j.ajhg.2018.10.018. Epub 2018 Nov 29.

PMID:
30503521
2.

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Gould RA, Aziz H, Woods CE, Seman-Senderos MA, Sparks E, Preuss C, Wünnemann F, Bedja D, Moats CR, McClymont SA, Rose R, Sobreira N, Ling H, MacCarrick G, Kumar AA, Luyckx I, Cannaerts E, Verstraeten A, Björk HM, Lehsau AC, Jaskula-Ranga V, Lauridsen H, Shah AA, Bennett CL, Ellinor PT, Lin H, Isselbacher EM, Lino Cardenas CL, Butcher JT, Hughes GC, Lindsay ME; Baylor-Hopkins Center for Mendelian Genomics; MIBAVA Leducq Consortium, Mertens L, Franco-Cereceda A, Verhagen JMA, Wessels M, Mohamed SA, Eriksson P, Mital S, Van Laer L, Loeys BL, Andelfinger G, McCallion AS, Dietz HC.

Nat Genet. 2019 Jan;51(1):42-50. doi: 10.1038/s41588-018-0265-y. Epub 2018 Nov 19.

PMID:
30455415
3.

Survey of Human Chromosome 21 Gene Expression Effects on Early Development in Danio rerio.

Edie S, Zaghloul NA, Leitch CC, Klinedinst DK, Lebron J, Thole JF, McCallion AS, Katsanis N, Reeves RH.

G3 (Bethesda). 2018 Jul 2;8(7):2215-2223. doi: 10.1534/g3.118.200144.

4.

Single-Cell RNA-Seq of Mouse Dopaminergic Neurons Informs Candidate Gene Selection for Sporadic Parkinson Disease.

Hook PW, McClymont SA, Cannon GH, Law WD, Morton AJ, Goff LA, McCallion AS.

Am J Hum Genet. 2018 Mar 1;102(3):427-446. doi: 10.1016/j.ajhg.2018.02.001.

5.

Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Sep 25;8:730. doi: 10.3389/fphys.2017.00730. eCollection 2017.

6.

Sox10+ Cells Contribute to Vascular Development in Multiple Organs-Brief Report.

Wang D, Wu F, Yuan H, Wang A, Kang GJ, Truong T, Chen L, McCallion AS, Gong X, Li S.

Arterioscler Thromb Vasc Biol. 2017 Sep;37(9):1727-1731. doi: 10.1161/ATVBAHA.117.309774. Epub 2017 Jul 27.

7.

Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.

Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium.

Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017. Erratum in: Front Physiol. 2017 Sep 25;8:730.

8.

Functional Characterization of Schizophrenia-Associated Variation in CACNA1C.

Eckart N, Song Q, Yang R, Wang R, Zhu H, McCallion AS, Avramopoulos D.

PLoS One. 2016 Jun 8;11(6):e0157086. doi: 10.1371/journal.pone.0157086. eCollection 2016.

9.

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.

Turner TN, Hormozdiari F, Duyzend MH, McClymont SA, Hook PW, Iossifov I, Raja A, Baker C, Hoekzema K, Stessman HA, Zody MC, Nelson BJ, Huddleston J, Sandstrom R, Smith JD, Hanna D, Swanson JM, Faustman EM, Bamshad MJ, Stamatoyannopoulos J, Nickerson DA, McCallion AS, Darnell R, Eichler EE.

Am J Hum Genet. 2016 Jan 7;98(1):58-74. doi: 10.1016/j.ajhg.2015.11.023. Epub 2015 Dec 31.

10.

Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.

Fufa TD, Harris ML, Watkins-Chow DE, Levy D, Gorkin DU, Gildea DE, Song L, Safi A, Crawford GE, Sviderskaya EV, Bennett DC, Mccallion AS, Loftus SK, Pavan WJ.

Hum Mol Genet. 2015 Oct 1;24(19):5433-50. doi: 10.1093/hmg/ddv267. Epub 2015 Jul 23.

11.

A method to predict the impact of regulatory variants from DNA sequence.

Lee D, Gorkin DU, Baker M, Strober BJ, Asoni AL, McCallion AS, Beer MA.

Nat Genet. 2015 Aug;47(8):955-61. doi: 10.1038/ng.3331. Epub 2015 Jun 15.

12.

Carbamate nerve agent prophylatics exhibit distinct toxicological effects in the zebrafish embryo model.

Fischer A, Wolman M, Granato M, Parsons M, McCallion AS, Proescher J, English E.

Neurotoxicol Teratol. 2015 Jul-Aug;50:1-10. doi: 10.1016/j.ntt.2015.05.001. Epub 2015 May 9.

PMID:
25968237
13.

Targeted inhibition of tumor-specific glutaminase diminishes cell-autonomous tumorigenesis.

Xiang Y, Stine ZE, Xia J, Lu Y, O'Connor RS, Altman BJ, Hsieh AL, Gouw AM, Thomas AG, Gao P, Sun L, Song L, Yan B, Slusher BS, Zhuo J, Ooi LL, Lee CG, Mancuso A, McCallion AS, Le A, Milone MC, Rayport S, Felsher DW, Dang CV.

J Clin Invest. 2015 Jun;125(6):2293-306. doi: 10.1172/JCI75836. Epub 2015 Apr 27.

14.

Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.

Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A.

Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014.

15.

Functional variants in DPYSL2 sequence increase risk of schizophrenia and suggest a link to mTOR signaling.

Liu Y, Pham X, Zhang L, Chen PL, Burzynski G, McGaughey DM, He S, McGrath JA, Wolyniec P, Fallin MD, Pierce MS, McCallion AS, Pulver AE, Avramopoulos D, Valle D.

G3 (Bethesda). 2014 Nov 20;5(1):61-72. doi: 10.1534/g3.114.015636.

16.

Rbm24a and Rbm24b are required for normal somitogenesis.

Maragh S, Miller RA, Bessling SL, Wang G, Hook PW, McCallion AS.

PLoS One. 2014 Aug 29;9(8):e105460. doi: 10.1371/journal.pone.0105460. eCollection 2014.

17.

A polymorphism in IRF4 affects human pigmentation through a tyrosinase-dependent MITF/TFAP2A pathway.

Praetorius C, Grill C, Stacey SN, Metcalf AM, Gorkin DU, Robinson KC, Van Otterloo E, Kim RS, Bergsteinsdottir K, Ogmundsdottir MH, Magnusdottir E, Mishra PJ, Davis SR, Guo T, Zaidi MR, Helgason AS, Sigurdsson MI, Meltzer PS, Merlino G, Petit V, Larue L, Loftus SK, Adams DR, Sobhiafshar U, Emre NC, Pavan WJ, Cornell R, Smith AG, McCallion AS, Fisher DE, Stefansson K, Sturm RA, Steingrimsson E.

Cell. 2013 Nov 21;155(5):1022-33. doi: 10.1016/j.cell.2013.10.022.

18.

Integration of genomic and functional approaches reveals enhancers at LMX1A and LMX1B.

Burzynski GM, Reed X, Maragh S, Matsui T, McCallion AS.

Mol Genet Genomics. 2013 Nov;288(11):579-89. doi: 10.1007/s00438-013-0771-7. Epub 2013 Aug 13.

19.

kmer-SVM: a web server for identifying predictive regulatory sequence features in genomic data sets.

Fletez-Brant C, Lee D, McCallion AS, Beer MA.

Nucleic Acids Res. 2013 Jul;41(Web Server issue):W544-56. doi: 10.1093/nar/gkt519. Epub 2013 Jun 14.

20.

Sox10-MCS5 enhancer dynamically tracks human oligodendrocyte progenitor fate.

Pol SU, Lang JK, O'Bara MA, Cimato TR, McCallion AS, Sim FJ.

Exp Neurol. 2013 Sep;247:694-702. doi: 10.1016/j.expneurol.2013.03.010. Epub 2013 Mar 16.

21.

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC.

Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30.

22.

Integration of ChIP-seq and machine learning reveals enhancers and a predictive regulatory sequence vocabulary in melanocytes.

Gorkin DU, Lee D, Reed X, Fletez-Brant C, Bessling SL, Loftus SK, Beer MA, Pavan WJ, McCallion AS.

Genome Res. 2012 Nov;22(11):2290-301. doi: 10.1101/gr.139360.112. Epub 2012 Sep 27.

23.

Systematic elucidation and in vivo validation of sequences enriched in hindbrain transcriptional control.

Burzynski GM, Reed X, Taher L, Stine ZE, Matsui T, Ovcharenko I, McCallion AS.

Genome Res. 2012 Nov;22(11):2278-89. doi: 10.1101/gr.139717.112. Epub 2012 Jul 3.

24.

Close association of olfactory placode precursors and cranial neural crest cells does not predestine cell mixing.

Harden MV, Pereiro L, Ramialison M, Wittbrodt J, Prasad MK, McCallion AS, Whitlock KE.

Dev Dyn. 2012 Jul;241(7):1143-54. doi: 10.1002/dvdy.23797. Epub 2012 May 22.

25.

SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter.

Hodonsky CJ, Kleinbrink EL, Charney KN, Prasad M, Bessling SL, Jones EA, Srinivasan R, Svaren J, McCallion AS, Antonellis A.

Mol Cell Neurosci. 2012 Feb;49(2):85-96. doi: 10.1016/j.mcn.2011.10.004. Epub 2011 Oct 19.

26.

Identification of RNA binding motif proteins essential for cardiovascular development.

Maragh S, Miller RA, Bessling SL, McGaughey DM, Wessels MW, de Graaf B, Stone EA, Bertoli-Avella AM, Gearhart JD, Fisher S, McCallion AS.

BMC Dev Biol. 2011 Oct 19;11:62. doi: 10.1186/1471-213X-11-62.

27.

A zebrafish SKIV2L2-enhancer trap line provides a useful tool for the study of peripheral sensory circuit development.

Cox JA, McAdow AR, Dinitz AE, McCallion AS, Johnson SL, Voigt MM.

Gene Expr Patterns. 2011 Oct;11(7):409-14. doi: 10.1016/j.gep.2011.06.002. Epub 2011 Jul 1.

28.

Steroid hormone modulation of RET through two estrogen responsive enhancers in breast cancer.

Stine ZE, McGaughey DM, Bessling SL, Li S, McCallion AS.

Hum Mol Genet. 2011 Oct 1;20(19):3746-56. doi: 10.1093/hmg/ddr291. Epub 2011 Jul 7.

29.

SOX10 directly modulates ERBB3 transcription via an intronic neural crest enhancer.

Prasad MK, Reed X, Gorkin DU, Cronin JC, McAdow AR, Chain K, Hodonsky CJ, Jones EA, Svaren J, Antonellis A, Johnson SL, Loftus SK, Pavan WJ, McCallion AS.

BMC Dev Biol. 2011 Jun 14;11:40. doi: 10.1186/1471-213X-11-40.

30.

Genome-wide identification of conserved regulatory function in diverged sequences.

Taher L, McGaughey DM, Maragh S, Aneas I, Bessling SL, Miller W, Nobrega MA, McCallion AS, Ovcharenko I.

Genome Res. 2011 Jul;21(7):1139-49. doi: 10.1101/gr.119016.110. Epub 2011 May 31.

31.

A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

Antonellis A, Dennis MY, Burzynski G, Huynh J, Maduro V, Hodonsky CJ, Khajavi M, Szigeti K, Mukkamala S, Bessling SL, Pavan WJ, McCallion AS, Lupski JR, Green ED; NISC Comparative Sequencing Program.

PLoS One. 2010 Dec 16;5(12):e14346. doi: 10.1371/journal.pone.0014346.

32.

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.

Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A.

Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007.

33.

Genomics of long-range regulatory elements.

Noonan JP, McCallion AS.

Annu Rev Genomics Hum Genet. 2010;11:1-23. doi: 10.1146/annurev-genom-082509-141651. Review.

PMID:
20438361
34.

Efficient discovery of ASCL1 regulatory sequences through transgene pooling.

McGaughey DM, McCallion AS.

Genomics. 2010 Jun;95(6):363-9. doi: 10.1016/j.ygeno.2010.02.011. Epub 2010 Mar 4.

35.
36.

Oligodendroglial and pan-neural crest expression of Cre recombinase directed by Sox10 enhancer.

Stine ZE, Huynh JL, Loftus SK, Gorkin DU, Salmasi AH, Novak T, Purves T, Miller RA, Antonellis A, Gearhart JP, Pavan WJ, McCallion AS.

Genesis. 2009 Nov;47(11):765-70. doi: 10.1002/dvg.20559.

37.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.

de Pontual L, Zaghloul NA, Thomas S, Davis EE, McGaughey DM, Dollfus H, Baumann C, Bessling SL, Babarit C, Pelet A, Gascue C, Beales P, Munnich A, Lyonnet S, Etchevers H, Attie-Bitach T, Badano JL, McCallion AS, Katsanis N, Amiel J.

Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):13921-6. doi: 10.1073/pnas.0901219106. Epub 2009 Jul 31.

38.

Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend.

McGaughey DM, Stine ZE, Huynh JL, Vinton RM, McCallion AS.

BMC Genomics. 2009 Jan 7;10:8. doi: 10.1186/1471-2164-10-8.

39.

Gpnmb is a melanoblast-expressed, MITF-dependent gene.

Loftus SK, Antonellis A, Matera I, Renaud G, Baxter LL, Reid D, Wolfsberg TG, Chen Y, Wang C; NISC Comparative Sequencing Program, Prasad MK, Bessling SL, McCallion AS, Green ED, Bennett DC, Pavan WJ.

Pigment Cell Melanoma Res. 2009 Feb;22(1):99-110. doi: 10.1111/j.1755-148X.2008.00518.x. Epub 2008 Nov 1.

40.

Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

Antonellis A, Huynh JL, Lee-Lin SQ, Vinton RM, Renaud G, Loftus SK, Elliot G, Wolfsberg TG, Green ED, McCallion AS, Pavan WJ.

PLoS Genet. 2008 Sep 5;4(9):e1000174. doi: 10.1371/journal.pgen.1000174.

41.

Efficient array-based identification of novel cardiac genes through differentiation of mouse ESCs.

Miller RA, Christoforou N, Pevsner J, McCallion AS, Gearhart JD.

PLoS One. 2008 May 14;3(5):e2176. doi: 10.1371/journal.pone.0002176.

42.

Mouse ES cell-derived cardiac precursor cells are multipotent and facilitate identification of novel cardiac genes.

Christoforou N, Miller RA, Hill CM, Jie CC, McCallion AS, Gearhart JD.

J Clin Invest. 2008 Mar;118(3):894-903. doi: 10.1172/JCI33942.

43.

Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b.

McGaughey DM, Vinton RM, Huynh J, Al-Saif A, Beer MA, McCallion AS.

Genome Res. 2008 Feb;18(2):252-60. Epub 2007 Dec 10.

44.

Manipulating mitotic recombination in the zebrafish embryo through RecQ helicases.

Xie J, Bessling SL, Cooper TK, Dietz HC, McCallion AS, Fisher S.

Genetics. 2007 Jun;176(2):1339-42. Epub 2007 May 4.

45.

Evaluating the biological relevance of putative enhancers using Tol2 transposon-mediated transgenesis in zebrafish.

Fisher S, Grice EA, Vinton RM, Bessling SL, Urasaki A, Kawakami K, McCallion AS.

Nat Protoc. 2006;1(3):1297-305.

PMID:
17406414
46.

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

Cranston AN, Carniti C, Oakhill K, Radzio-Andzelm E, Stone EA, McCallion AS, Hodgson S, Clarke S, Mondellini P, Leyland J, Pierotti MA, Whittaker J, Taylor SS, Bongarzone I, Ponder BA.

Cancer Res. 2006 Oct 15;66(20):10179-87.

47.

Myelin-associated oligodendrocytic basic protein: a family of abundant CNS myelin proteins in search of a function.

Montague P, McCallion AS, Davies RW, Griffiths IR.

Dev Neurosci. 2006;28(6):479-87. Review.

PMID:
17028425
48.

Conservation of RET regulatory function from human to zebrafish without sequence similarity.

Fisher S, Grice EA, Vinton RM, Bessling SL, McCallion AS.

Science. 2006 Apr 14;312(5771):276-9. Epub 2006 Mar 23.

49.

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

Grice EA, Rochelle ES, Green ED, Chakravarti A, McCallion AS.

Hum Mol Genet. 2005 Dec 15;14(24):3837-45. Epub 2005 Nov 3.

PMID:
16269442
50.

Phenotype-genotype correlation in Hirschsprung disease is illuminated by comparative analysis of the RET protein sequence.

Kashuk CS, Stone EA, Grice EA, Portnoy ME, Green ED, Sidow A, Chakravarti A, McCallion AS.

Proc Natl Acad Sci U S A. 2005 Jun 21;102(25):8949-54. Epub 2005 Jun 13.

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