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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

Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents.

McCormack SE, Shaham O, McCarthy MA, et al. Circulating branched-chain amino acid concentrations are associated with obesity and future insulin resistance in children and adolescents. Pediatr Obes. 2013;8(1):52-61. doi:10.1111/j.2047-6310.2012.00087.x

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

Loss of PCLO function underlies pontocerebellar hypoplasia type III.

Ahmed MY, Chioza BA, Rajab A, et al. Loss of PCLO function underlies pontocerebellar hypoplasia type III. Neurology. 2015;84(17):1745-50. doi:10.1212/WNL.0000000000001523

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, et al. A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. Am J Hum Genet. 2015;96(5):784-96. doi:10.1016/j.ajhg.2015.04.002

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