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Items: 3

1.

SV-plaudit: A cloud-based framework for manually curating thousands of structural variants.

Belyeu JR, Nicholas TJ, Pedersen BS, Sasani TA, Havrilla JM, Kravitz SN, Conway ME, Lohman BK, Quinlan AR, Layer RM.

Gigascience. 2018 Jul 1;7(7). doi: 10.1093/gigascience/giy064.

2.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.

3.

Evidence for α-synuclein prions causing multiple system atrophy in humans with parkinsonism.

Prusiner SB, Woerman AL, Mordes DA, Watts JC, Rampersaud R, Berry DB, Patel S, Oehler A, Lowe JK, Kravitz SN, Geschwind DH, Glidden DV, Halliday GM, Middleton LT, Gentleman SM, Grinberg LT, Giles K.

Proc Natl Acad Sci U S A. 2015 Sep 22;112(38):E5308-17. doi: 10.1073/pnas.1514475112. Epub 2015 Aug 31.

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