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A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex.

Tyburczy ME, Jozwiak S, Malinowska IA, et al. A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex. Hum Mol Genet. 2015;24(7):1836-42. doi:10.1093/hmg/ddu597

GB virus C coinfections in west African Ebola patients.

Lauck M, Bailey AL, Andersen KG, Goldberg TL, Sabeti PC, O’Connor DH. GB virus C coinfections in west African Ebola patients. J Virol. 2015;89(4):2425-9. doi:10.1128/JVI.02752-14

16S community profiling identifies proton pump inhibitor related differences in gastric, lung, and oropharyngeal microflora.

Rosen R, Hu L, Amirault J, Khatwa U, Ward DV, Onderdonk A. 16S community profiling identifies proton pump inhibitor related differences in gastric, lung, and oropharyngeal microflora. J Pediatr. 2015;166(4):917-23. doi:10.1016/j.jpeds.2014.12.067

Expanding the phenotype of GMPPB mutations.

Cabrera-Serrano M, Ghaoui R, Ravenscroft G, et al. Expanding the phenotype of GMPPB mutations. Brain. 2015;138(Pt 4):836-44. doi:10.1093/brain/awv013

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

Leoni V, Strittmatter L, Zorzi G, et al. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations. Mol Genet Metab. 2012;105(3):463-71. doi:10.1016/j.ymgme.2011.12.005

Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning.

Kosmicki JA, Sochat V, Duda M, Wall DP. Searching for a minimal set of behaviors for autism detection through feature selection-based machine learning. Transl Psychiatry. 2015;5:e514. doi:10.1038/tp.2015.7

Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma.

Ramkissoon SH, Bi WL, Schumacher SE, et al. Clinical implementation of integrated whole-genome copy number and mutation profiling for glioblastoma. Neuro Oncol. 2015;17(10):1344-55. doi:10.1093/neuonc/nov015

Expression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype.

Bergthold G, Bandopadhayay P, Hoshida Y, et al. Expression profiles of 151 pediatric low-grade gliomas reveal molecular differences associated with location and histological subtype. Neuro Oncol. 2015;17(11):1486-96. doi:10.1093/neuonc/nov045

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Akizu N, Cantagrel V, Zaki MS, et al. Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction. Nat Genet. 2015;47(5):528-34. doi:10.1038/ng.3256

Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.

Guemez-Gamboa A, Nguyen LN, Yang H, et al. Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. Nat Genet. 2015;47(7):809-13. doi:10.1038/ng.3311