Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population Andrew J. MowatMichael CromptonSally J. Dawson Original Investigation Open access 04 May 2018 Pages: 357 - 363
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions Lisa NeuhäuslerAnna SummererHildegard Kehrer-Sawatzki Original Investigation 05 May 2018 Pages: 365 - 373
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder Lot Snijders BlokSusan M. HiattGregory M. Cooper Original Investigation Open access 08 May 2018 Pages: 375 - 388
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction Mieke WesdorpPia A. M. de Koning GansHannie Kremer Original Investigation Open access 12 May 2018 Pages: 389 - 400
De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies Daniel FritzenAlma KuechlerHartmut Engels Original Investigation 23 May 2018 Pages: 401 - 411
Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS Elisabetta ManduchiScott M. WilliamsJason H. Moore Original Investigation 24 May 2018 Pages: 413 - 425
Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans M. KrallS. HtunA. M. Slavotinek Correction 11 May 2018 Pages: 427 - 428
Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study Sara LindströmMarine Germainfor the INVENT Consortium Correction 19 May 2018 Pages: 429 - 429