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Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia.

Ferrando AA, Neuberg DS, Staunton J, et al. Gene expression signatures define novel oncogenic pathways in T cell acute lymphoblastic leukemia. Cancer Cell. 2002;1(1):75-87.

A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers.

Lee RS, Stewart C, Carter SL, et al. A remarkably simple genome underlies highly malignant pediatric rhabdoid cancers. J Clin Invest. 2012;122(8):2983-8. doi:10.1172/JCI64400

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

Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.

Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet. 2000;24(4):438-41. doi:10.1038/74307

Evidence that nuclear factor IA inhibits repair after white matter injury.

Fancy SPJ, Glasgow SM, Finley M, Rowitch DH, Deneen B. Evidence that nuclear factor IA inhibits repair after white matter injury. Ann Neurol. 2012;72(2):224-33. doi:10.1002/ana.23590

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

Oligodendrocyte regeneration after neonatal hypoxia requires FoxO1-mediated p27Kip1 expression.

Jablonska B, Scafidi J, Aguirre A, et al. Oligodendrocyte regeneration after neonatal hypoxia requires FoxO1-mediated p27Kip1 expression. J Neurosci. 2012;32(42):14775-93. doi:10.1523/JNEUROSCI.2060-12.2012

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

Developmental timing of child maltreatment and symptoms of depression and suicidal ideation in young adulthood: results from the National Longitudinal Study of Adolescent Health.

Dunn EC, McLaughlin KA, Slopen N, Rosand J, Smoller JW. Developmental timing of child maltreatment and symptoms of depression and suicidal ideation in young adulthood: results from the National Longitudinal Study of Adolescent Health. Depress Anxiety. 2013;30(10):955-64. doi:10.1002/da.22102

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.

Kim J, Won HH, Kim Y, Choi JR, Yu N, Lee KA. Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement. J Med Genet. 2015;52(10):706-9. doi:10.1136/jmedgenet-2015-103001