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Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.

Lake NJ, Webb BD, Stroud DA, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. Am J Hum Genet. 2017;101(2):239-254. doi:10.1016/j.ajhg.2017.07.005

Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood.

Edvardson S, Nicolae CM, Agrawal PB, et al. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet. 2017;101(2):267-273. doi:10.1016/j.ajhg.2017.07.002

The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients.

Luukkonen TM, Kiiski V, Ahola M, et al. The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish Patients. Acta Derm Venereol. 2017;97(4):456-463. doi:10.2340/00015555-2578

Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy.

Delaney NF, Sharma R, Tadvalkar L, Clish CB, Haller RG, Mootha VK. Metabolic profiles of exercise in patients with McArdle disease or mitochondrial myopathy. Proc Natl Acad Sci U S A. 2017;114(31):8402-8407. doi:10.1073/pnas.1703338114

Are there sensitive periods when child maltreatment substantially elevates suicide risk? Results from a nationally representative sample of adolescents.

Gomez SH, Tse J, Wang Y, et al. Are there sensitive periods when child maltreatment substantially elevates suicide risk? Results from a nationally representative sample of adolescents. Depress Anxiety. 2017;34(8):734-741. doi:10.1002/da.22650

RPC4046, A Novel Anti-interleukin-13 Antibody, Blocks IL-13 Binding to IL-13 α1 and α2 Receptors: A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation First-in-Human Study.

Tripp CS, Cuff C, Campbell AL, et al. RPC4046, A Novel Anti-interleukin-13 Antibody, Blocks IL-13 Binding to IL-13 α1 and α2 Receptors: A Randomized, Double-Blind, Placebo-Controlled, Dose-Escalation First-in-Human Study. Adv Ther. 2017;34(6):1364-1381. doi:10.1007/s12325-017-0525-8

Heritability analysis with repeat measurements and its application to resting-state functional connectivity.

Ge T, Holmes AJ, Buckner RL, Smoller JW, Sabuncu MR. Heritability analysis with repeat measurements and its application to resting-state functional connectivity. Proc Natl Acad Sci U S A. 2017;114(21):5521-5526. doi:10.1073/pnas.1700765114

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Day FR, Thompson DJ, Helgason H, et al. Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk. Nat Genet. 2017;49(6):834-841. doi:10.1038/ng.3841

Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant.

Srivastava S, Gubbels CS, Dies K, Fulton A, Yu T, Sahin M. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017;32(9):840-845. doi:10.1177/0883073817711527

The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders.

Pedersen CB, Bybjerg-Grauholm J, Pedersen MG, et al. The iPSYCH2012 case-cohort sample: new directions for unravelling genetic and environmental architectures of severe mental disorders. Mol Psychiatry. 2018;23(1):6-14. doi:10.1038/mp.2017.196