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Items: 5

1.

Diagnostic utility of telomere length testing in a hospital-based setting.

Alder JK, Hanumanthu VS, Strong MA, DeZern AE, Stanley SE, Takemoto CM, Danilova L, Applegate CD, Bolton SG, Mohr DW, Brodsky RA, Casella JF, Greider CW, Jackson JB, Armanios M.

Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):E2358-E2365. doi: 10.1073/pnas.1720427115. Epub 2018 Feb 20. Erratum in: Proc Natl Acad Sci U S A. 2018 Apr 23;:.

2.

Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.

Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.

JAMA Ophthalmol. 2014 Oct;132(10):1215-20. doi: 10.1001/jamaophthalmol.2014.1731.

PMID:
24993872
3.

Characterization of the genomic architecture and mutational spectrum of a small cell prostate carcinoma.

Scott AF, Mohr DW, Ling H, Scharpf RB, Zhang P, Liptak GS.

Genes (Basel). 2014 May 12;5(2):366-84. doi: 10.3390/genes5020366.

4.

Mutations in Alström protein impair terminal differentiation of cardiomyocytes.

Shenje LT, Andersen P, Halushka MK, Lui C, Fernandez L, Collin GB, Amat-Alarcon N, Meschino W, Cutz E, Chang K, Yonescu R, Batista DA, Chen Y, Chelko S, Crosson JE, Scheel J, Vricella L, Craig BD, Marosy BA, Mohr DW, Hetrick KN, Romm JM, Scott AF, Valle D, Naggert JK, Kwon C, Doheny KF, Judge DP.

Nat Commun. 2014 Mar 4;5:3416. doi: 10.1038/ncomms4416.

5.

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.

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