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Items: 3

1.

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. 2018 Nov 19. doi: 10.1038/s41588-018-0265-y. [Epub ahead of print]

PMID:
30455415
2.

Gene Editing as a Potential Therapeutic Solution for Fuchs Endothelial Corneal Dystrophy: The Future Is Clearer.

Zhu AY, Jaskula-Ranga V, Jun AS.

JAMA Ophthalmol. 2018 Sep 1;136(9):969-970. doi: 10.1001/jamaophthalmol.2018.2324. No abstract available.

PMID:
29931030
3.

Enhanced Functional Genomic Screening Identifies Novel Mediators of Dual Leucine Zipper Kinase-Dependent Injury Signaling in Neurons.

Welsbie DS, Mitchell KL, Jaskula-Ranga V, Sluch VM, Yang Z, Kim J, Buehler E, Patel A, Martin SE, Zhang PW, Ge Y, Duan Y, Fuller J, Kim BJ, Hamed E, Chamling X, Lei L, Fraser IDC, Ronai ZA, Berlinicke CA, Zack DJ.

Neuron. 2017 Jun 21;94(6):1142-1154.e6. doi: 10.1016/j.neuron.2017.06.008.

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