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C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector.

Abudayyeh OO, Gootenberg JS, Konermann S, et al. C2c2 is a single-component programmable RNA-guided RNA-targeting CRISPR effector. Science. 2016;353(6299):aaf5573. doi:10.1126/science.aaf5573

An integrated map of structural variation in 2,504 human genomes.

Sudmant PH, Rausch T, Gardner EJ, et al. An integrated map of structural variation in 2,504 human genomes. Nature. 2015;526(7571):75-81. doi:10.1038/nature15394

Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

Nomura A, Tada H, Teramoto R, et al. Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy. J Cardiol. 2016;67(2):133-9. doi:10.1016/j.jjcc.2015.09.003

Identification of and Molecular Basis for SIRT6 Loss-of-Function Point Mutations in Cancer.

Kugel S, Feldman JL, Klein MA, et al. Identification of and Molecular Basis for SIRT6 Loss-of-Function Point Mutations in Cancer. Cell Rep. 2015;13(3):479-88. doi:10.1016/j.celrep.2015.09.022

Sequencing of Culex quinquefasciatus establishes a platform for mosquito comparative genomics.

Arensburger P, Megy K, Waterhouse RM, et al. Sequencing of Culex quinquefasciatus establishes a platform for mosquito comparative genomics. Science. 2010;330(6000):86-8. doi:10.1126/science.1191864

Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.

Hästbacka J, Superti-Furga A, Wilcox WR, Rimoin DL, Cohn DH, Lander ES. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias. Am J Hum Genet. 1996;58(2):255-62.

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region.

Pfeifer D, Kist R, Dewar K, et al. Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region. Am J Hum Genet. 1999;65(1):111-24. doi:10.1086/302455

A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.

Lee N, Daly MJ, DelMonte T, et al. A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet. 2001;68(2):397-409. doi:10.1086/318197

Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat.

Jacob HJ, Lindpaintner K, Lincoln SE, et al. Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat. Cell. 1991;67(1):213-24.

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.

Hästbacka J, de la Chapelle A, Mahtani MM, et al. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell. 1994;78(6):1073-87.