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Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

Medina-Gomez C, Kemp JP, Trajanoska K, et al. Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. Am J Hum Genet. 2018;102(1):88-102. doi:10.1016/j.ajhg.2017.12.005

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, et al. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia. Am J Hum Genet. 2018;102(5):744-759. doi:10.1016/j.ajhg.2018.02.021

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

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

Compositional and Temporal Changes in the Gut Microbiome of Pediatric Ulcerative Colitis Patients Are Linked to Disease Course.

Schirmer M, Denson L, Vlamakis H, et al. Compositional and Temporal Changes in the Gut Microbiome of Pediatric Ulcerative Colitis Patients Are Linked to Disease Course. Cell Host Microbe. 2018;24(4):600-610.e4. doi:10.1016/j.chom.2018.09.009

Fluid Balance Is Associated with Clinical Outcomes and Extravascular Lung Water in Children with Acute Asthma Exacerbation.

Kantor DB, Hirshberg EL, McDonald MC, et al. Fluid Balance Is Associated with Clinical Outcomes and Extravascular Lung Water in Children with Acute Asthma Exacerbation. Am J Respir Crit Care Med. 2018;197(9):1128-1135. doi:10.1164/rccm.201709-1860OC

Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.

Waszak SM, Northcott PA, Buchhalter I, et al. Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. Lancet Oncol. 2018;19(6):785-798. doi:10.1016/S1470-2045(18)30242-0

Implementation of the hyaluronic acid fat graft myringoplasty technique, pitfalls and lessons learned.

Grotenhuis N, Koopman JP, Kruyt JM, Rothuizen LT, Knevel R, Blom H. Implementation of the hyaluronic acid fat graft myringoplasty technique, pitfalls and lessons learned. Acta Otolaryngol. 2017;137(10):1035-1038. doi:10.1080/00016489.2017.1330556

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

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

May P, Girard S, Harrer M, et al. Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study. Lancet Neurol. 2018;17(8):699-708. doi:10.1016/S1474-4422(18)30215-1