Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis Ali AmarAmar J. MajmundarFriedhelm Hildebrandt Original Investigation 18 February 2019 Pages: 211 - 219
NUP214 deficiency causes severe encephalopathy and microcephaly in humans Hanan E. ShamseldinNawal MakhseedFowzan S. Alkuraya Original Investigation 13 February 2019 Pages: 221 - 229
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly Ranad ShaheenMonika TasakFowzan S. Alkuraya Original Investigation 18 February 2019 Pages: 231 - 239
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype Corey RuhnoVicki L. McGovernArthur H. M. Burghes Original Investigation 20 February 2019 Pages: 241 - 256
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders Gloria NegriPamela MaginiCristina Gervasini Original Investigation 26 February 2019 Pages: 257 - 269
Shared genetic architecture between metabolic traits and Alzheimer’s disease: a large-scale genome-wide cross-trait analysis Zhaozhong ZhuYifei LinLiming Liang Original investigation 25 February 2019 Pages: 271 - 285
A response to “Personalised medicine and population health: breast and ovarian cancer” Antonis AntoniouHoda Anton-CulverElad Ziv Letter to the Editor 27 February 2019 Pages: 287 - 289
Author response to “a response to ‘personalised medicine and population health: breast and ovarian cancer’” Steven A. Narod Letter to the Editor 21 February 2019 Pages: 291 - 292