Table of contents

July 2019 - Volume 56 - 7

Editorial

Complex traits

Copy-number variation

  • Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis
    (25 February, 2019)
    Brooke Sadler, Gabe Haller, Lilian Antunes, Xavier Bledsoe, Jose Morcuende, Philip Giampietro, Cathleen Raggio, Nancy Miller, Yared Kidane, Carol A Wise, Ina Amarillo, Nephi Walton, Mark Seeley, Darren Johnson, Conner Jenkins, Troy Jenkins, Matthew Oetjens, R Spencer Tong, Todd E Druley, Matthew B Dobbs, Christina A Gurnett

Diagnostics

Genotype-phenotype correlations

  • NAA10 polyadenylation signal variants cause syndromic microphthalmia
    (6 March, 2019)
    Jennifer J Johnston, Kathleen A Williamson, Christopher M Chou, Julie C Sapp, Morad Ansari, Heather M Chapman, David N Cooper, Tabib Dabir, Jeffrey N Dudley, Richard J Holt, Nicola K Ragge, Alejandro A Schäffer, Shurjo K Sen, Anne M Slavotinek, David R FitzPatrick, Thomas M Glaser, Fiona Stewart, Graeme CM Black, Leslie G Biesecker

Cancer genetics

Gametes

Novel disease loci