Journal of Medical Genetics: 56 (7)

Editorial

Original article: Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changes (26 February, 2019)
Maxim Freidin, Minna Kraatari, Sini Skarp, Juhani Määttä, Johannes Kettunen, Jaakko Niinimäki, Jaro Karppinen, Frances Williams, Minna Männikkö

Original article:
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

Original article:
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

Original article: Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: an ENIGMA report (19 March, 2019)
Irene Lopez-Perolio, Raphaël Leman, Raquel Behar, Vanessa Lattimore, John F Pearson, Laurent Castéra, Alexandra Martins, Dominique Vaur, Nicolas Goardon, Grégoire Davy, Pilar Garre, Vanesa García-Barberán, Patricia Llovet, Pedro Pérez-Segura, Eduardo Díaz-Rubio, Trinidad Caldés, Kathleen S Hruska, Vickie Hsuan, Sitao Wu, Tina Pesaran, Rachid Karam, Johan Vallon-Christersson, Ake Borg, kConFab Investigators, Alberto Valenzuela-Palomo, Eladio A Velasco, Melissa Southey, Maaike P G Vreeswijk, Peter Devilee, Anders Kvist, Amanda B Spurdle, Logan C Walker, Sophie Krieger, Miguel de la Hoya
Original article: Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome (15 March, 2019)
Rachel Pearlman, Sigurdis Haraldsdottir, Albert de la Chapelle, Jon G Jonasson, Sandya Liyanarachchi, Wendy L Frankel, Thorunn Rafnar, Kari Stefansson, Colin C Pritchard, Heather Hampel

Original article:
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest
(15 March, 2019)
Jian Mu, Wenjing Wang, Biaobang Chen, Ling Wu, Bin Li, Xiaoyan Mao, Zhihua Zhang, Jing Fu, Yanping Kuang, Xiaoxi Sun, Qiaoli Li, Li Jin, Lin He, Qing Sang, Lei Wang