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Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

Blumenstiel B, DeFelice M, Birsoy O, et al. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease. J Mol Diagn. 2016;18(4):566-71. doi:10.1016/j.jmoldx.2016.03.003

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

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland.

Hästbacka J, de la Chapelle A, Kaitila I, Sistonen P, Weaver A, Lander E. Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet. 1992;2(3):204-11. doi:10.1038/ng1192-204

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute, Crosby J, Peloso GM, et al. Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med. 2014;371(1):22-31. doi:10.1056/NEJMoa1307095

AKT-independent signaling downstream of oncogenic PIK3CA mutations in human cancer.

Vasudevan KM, Barbie DA, Davies MA, et al. AKT-independent signaling downstream of oncogenic PIK3CA mutations in human cancer. Cancer Cell. 2009;16(1):21-32. doi:10.1016/j.ccr.2009.04.012

BRAF mutation predicts sensitivity to MEK inhibition.

Solit DB, Garraway LA, Pratilas CA, et al. BRAF mutation predicts sensitivity to MEK inhibition. Nature. 2006;439(7074):358-62. doi:10.1038/nature04304

Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.

Tucker EJ, Hershman SG, Köhrer C, et al. Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. Cell Metab. 2011;14(3):428-34. doi:10.1016/j.cmet.2011.07.010

Amplification of CRKL induces transformation and epidermal growth factor receptor inhibitor resistance in human non-small cell lung cancers.

Cheung HW, Du J, Boehm JS, et al. Amplification of CRKL induces transformation and epidermal growth factor receptor inhibitor resistance in human non-small cell lung cancers. Cancer Discov. 2011;1(7):608-25. doi:10.1158/2159-8290.CD-11-0046

Differential relationship of DNA replication timing to different forms of human mutation and variation.

Koren A, Polak P, Nemesh J, et al. Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet. 2012;91(6):1033-40. doi:10.1016/j.ajhg.2012.10.018

Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia.

Cancer Genome Atlas Research Network, Ley TJ, Miller C, et al. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22):2059-74. doi:10.1056/NEJMoa1301689