Carpenter G - Search Results

1

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M. Mirzaa GM, et al. Among authors: carpenter g. Hum Genet. 2014 Aug;133(8):1023-39. doi: 10.1007/s00439-014-1443-3. Epub 2014 Apr 20. Hum Genet. 2014. PMID: 24748105 Free PMC article.

2

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Kerzendorfer C, Hannes F, Colnaghi R, Abramowicz I, Carpenter G, Vermeesch JR, O'Driscoll M. Kerzendorfer C, et al. Among authors: carpenter g. Hum Mol Genet. 2012 May 15;21(10):2181-93. doi: 10.1093/hmg/dds033. Epub 2012 Feb 10. Hum Mol Genet. 2012. PMID: 22328085

3

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Abramowicz I, Carpenter G, Alfieri M, Colnaghi R, Outwin E, Parent P, Thauvin-Robinet C, Iaconis D, Franco B, O'Driscoll M. Abramowicz I, et al. Among authors: carpenter g. Hum Mol Genet. 2017 Jan 1;26(1):19-32. doi: 10.1093/hmg/ddw364. Hum Mol Genet. 2017. PMID: 27798113

4

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA. Ogi T, et al. Among authors: carpenter g. PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8. PLoS Genet. 2012. PMID: 23144622 Free PMC article.

5

Meier-Gorlin syndrome and Wolf-Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis.

Kerzendorfer C, Colnaghi R, Abramowicz I, Carpenter G, O'Driscoll M. Kerzendorfer C, et al. Among authors: carpenter g. DNA Repair (Amst). 2013 Aug;12(8):637-44. doi: 10.1016/j.dnarep.2013.04.016. Epub 2013 May 23. DNA Repair (Amst). 2013. PMID: 23706772 Free article.

6

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA. Tanaka A, et al. Among authors: carpenter g. Am J Hum Genet. 2012 Mar 9;90(3):511-7. doi: 10.1016/j.ajhg.2012.01.007. Epub 2012 Feb 16. Am J Hum Genet. 2012. PMID: 22341969 Free PMC article.

7

Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks.

Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M. Kerzendorfer C, et al. Among authors: carpenter g. Hum Mol Genet. 2010 Apr 1;19(7):1324-34. doi: 10.1093/hmg/ddq008. Epub 2010 Jan 11. Hum Mol Genet. 2010. PMID: 20064923 Free PMC article.

8

Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance.

Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R. Payne F, et al. Among authors: carpenter g. J Clin Invest. 2014 Sep;124(9):4028-38. doi: 10.1172/JCI73264. Epub 2014 Aug 8. J Clin Invest. 2014. PMID: 25105364 Free PMC article.

9

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O'Driscoll M. Outwin E, et al. Among authors: carpenter g. PLoS Genet. 2011 Aug;7(8):e1002247. doi: 10.1371/journal.pgen.1002247. Epub 2011 Aug 25. PLoS Genet. 2011. PMID: 21901111 Free PMC article.

10

Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.

Qiao Y, Mondal K, Trapani V, Wen J, Carpenter G, Wildin R, Price EM, Gibbons RJ, Eichmeyer J, Jiang R, DuPont B, Martell S, Lewis SM, Robinson WP, O'Driscoll M, Wolf FI, Zwick ME, Rajcan-Separovic E. Qiao Y, et al. Among authors: carpenter g. Hum Mutat. 2014 Jan;35(1):58-62. doi: 10.1002/humu.22465. Hum Mutat. 2014. PMID: 24130152

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