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Items: 11

1.

Transcriptomic and epigenomic characterization of the developing bat wing.

Eckalbar WL, Schlebusch SA, Mason MK, Gill Z, Parker AV, Booker BM, Nishizaki S, Muswamba-Nday C, Terhune E, Nevonen KA, Makki N, Friedrich T, VanderMeer JE, Pollard KS, Carbone L, Wall JD, Illing N, Ahituv N.

Nat Genet. 2016 May;48(5):528-36. doi: 10.1038/ng.3537. Epub 2016 Mar 28.

2.

Bat Accelerated Regions Identify a Bat Forelimb Specific Enhancer in the HoxD Locus.

Booker BM, Friedrich T, Mason MK, VanderMeer JE, Zhao J, Eckalbar WL, Logan M, Illing N, Pollard KS, Ahituv N.

PLoS Genet. 2016 Mar 28;12(3):e1005738. doi: 10.1371/journal.pgen.1005738. eCollection 2016 Mar.

3.

Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts.

VanderMeer JE, Carter TC, Pangilinan F, Mitchell A, Kurnat-Thoma E, Kirke PN, Troendle JF, Molloy AM, Munger RG, Feldkamp ML, Mansilla MA, Mills JL, Murray JC, Brody LC.

Am J Med Genet A. 2016 Apr;170A(4):1007-16. doi: 10.1002/ajmg.a.37539. Epub 2016 Jan 20.

PMID:
26789141
4.

Genome-wide identification of signaling center enhancers in the developing limb.

VanderMeer JE, Smith RP, Jones SL, Ahituv N.

Development. 2014 Nov;141(21):4194-8. doi: 10.1242/dev.110965. Epub 2014 Oct 1.

5.

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.

6.

Human developmental enhancers conserved between deuterostomes and protostomes.

Clarke SL, VanderMeer JE, Wenger AM, Schaar BT, Ahituv N, Bejerano G.

PLoS Genet. 2012;8(8):e1002852. doi: 10.1371/journal.pgen.1002852. Epub 2012 Aug 2.

7.

Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects.

Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O'Leary VB, Chines P, Seay JM, Geiler-Samerotte K, Mitchell A, VanderMeer JE, Krebs KM, Sanchez A, Cornman-Homonoff J, Stone N, Conley M, Kirke PN, Shane B, Scott JM, Brody LC.

BMC Med Genet. 2012 Aug 2;13:62.

8.

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.

VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S.

Am J Med Genet A. 2012 Aug;158A(8):2031-5. doi: 10.1002/ajmg.a.35473. Epub 2012 Jul 11.

9.

Studies of TBX4 and chromosome 17q23.1q23.2: an uncommon cause of nonsyndromic clubfoot.

Lu W, Bacino CA, Richards BS, Alvarez C, VanderMeer JE, Vella M, Ahituv N, Sikka N, Dietz FR, Blanton SH, Hecht JT.

Am J Med Genet A. 2012 Jul;158A(7):1620-7. doi: 10.1002/ajmg.a.35418. Epub 2012 Jun 7.

10.

A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb.

Laurell T, Vandermeer JE, Wenger AM, Grigelioniene G, Nordenskjöld A, Arner M, Ekblom AG, Bejerano G, Ahituv N, Nordgren A.

Hum Mutat. 2012 Jul;33(7):1063-6. doi: 10.1002/humu.22097. Epub 2012 May 11.

11.

cis-regulatory mutations are a genetic cause of human limb malformations.

VanderMeer JE, Ahituv N.

Dev Dyn. 2011 May;240(5):920-30. doi: 10.1002/dvdy.22535. Epub 2011 Jan 11. Review.

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