1. Evidence of distinct RELN and TGFB1 genetic associations in familial and non-familial otosclerosis in a British population

   • Andrew J. Mowat
   • Michael Crompton
   • Sally J. Dawson

   Original Investigation Open access 04 May 2018 Pages: 357 - 363

   

2. Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions

   • Lisa Neuhäusler
   • Anna Summerer
   • Hildegard Kehrer-Sawatzki

   Original Investigation 05 May 2018 Pages: 365 - 373

   

3. De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder

   • Lot Snijders Blok
   • Susan M. Hiatt
   • Gregory M. Cooper

   Original Investigation Open access 08 May 2018 Pages: 375 - 388

   

4. Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

   • Mieke Wesdorp
   • Pia A. M. de Koning Gans
   • Hannie Kremer

   Original Investigation Open access 12 May 2018 Pages: 389 - 400

   

5. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies

   • Daniel Fritzen
   • Alma Kuechler
   • Hartmut Engels

   Original Investigation 23 May 2018 Pages: 401 - 411

   

6. Leveraging epigenomics and contactomics data to investigate SNP pairs in GWAS

   • Elisabetta Manduchi
   • Scott M. Williams
   • Jason H. Moore

   Original Investigation 24 May 2018 Pages: 413 - 425

   

7. 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. Krall
   • S. Htun
   • A. M. Slavotinek

   Correction 11 May 2018 Pages: 427 - 428

   

8. Correction to: Assessing the causal relationship between obesity and venous thromboembolism through a Mendelian Randomization study

   • Sara Lindström
   • Marine Germain
   • for the INVENT Consortium

   Correction 19 May 2018 Pages: 429 - 429