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Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Agrawal PB, Joshi M, Marinakis NS, et al. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014;71(11):1413-20. doi:10.1001/jamaneurol.2014.1432

CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.

Manzini C, Xiong L, Shaheen R, et al. CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis. Cell Rep. 2014;8(3):647-55. doi:10.1016/j.celrep.2014.06.039

De novo CNVs in bipolar affective disorder and schizophrenia.

Georgieva L, Rees E, Moran JL, et al. De novo CNVs in bipolar affective disorder and schizophrenia. Hum Mol Genet. 2014;23(24):6677-83. doi:10.1093/hmg/ddu379

Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy.

Ahola S, Isohanni P, Euro L, et al. Mitochondrial EFTs defects in juvenile-onset Leigh disease, ataxia, neuropathy, and optic atrophy. Neurology. 2014;83(8):743-51. doi:10.1212/WNL.0000000000000716

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.

Blumenthal I, Ragavendran A, Erdin S, et al. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet. 2014;94(6):870-83. doi:10.1016/j.ajhg.2014.05.004

Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, et al. Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease. Neuromuscul Disord. 2014;24(8):666-70. doi:10.1016/j.nmd.2014.04.010

Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

Yu Y, Triebwasser MP, Wong EKS, et al. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014;23(19):5283-93. doi:10.1093/hmg/ddu226

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Sergouniotis PI, Chakarova C, Murphy C, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014;94(5):760-9. doi:10.1016/j.ajhg.2014.04.003

CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration.

Schaffer AE, Eggens VRC, Çağlayan AO, et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014;157(3):651-63. doi:10.1016/j.cell.2014.03.049

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet. 2014;94(4):547-58. doi:10.1016/j.ajhg.2014.03.003