Journal of Medical Genetics: 56 (9)

Neurogenetics

Original article: Deleterious somatic variants in 473 consecutive individuals with ovarian cancer: results of the observational AGO-TR1 study (NCT02222883) (12 April, 2019)
Jan Hauke, Eric Hahnen, Stephanie Schneider, Alexander Reuss, Lisa Richters, Stefan Kommoss, André Heimbach, Frederik Marmé, Sandra Schmidt, Katharina Prieske, Heidrun Gevensleben, Alexander Burges, Julika Borde, Nikolaus De Gregorio, Peter Nürnberg, Ahmed El-Balat, Holger Thiele, Felix Hilpert, Janine Altmüller, Werner Meier, Dimo Dietrich, Rainer Kimmig, Birgid Schoemig-Markiefka, Karin Kast, Elena Braicu, Klaus Baumann, Christian Jackisch, Tjoung-Won Park-Simon, Corinna Ernst, Lars Hanker, Jacobus Pfisterer, Andreas Schnelzer, Andreas du Bois, Rita K Schmutzler, Philipp Harter
Original article:
Addition of a 161-SNP polygenic risk score to family history-based risk prediction: impact on clinical management in non-BRCA1/2 breast cancer families
(11 June, 2019)
Inge M M Lakeman, Florentine S Hilbers, Mar Rodríguez-Girondo, Andrew Lee, Maaike P G Vreeswijk, Antoinette Hollestelle, Caroline Seynaeve, Hanne Meijers-Heijboer, Jan C Oosterwijk, Nicoline Hoogerbrugge, Edith Olah, Hans F A Vasen, Christi J van Asperen, Peter Devilee

Original article: Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy (22 April, 2019) Free
Karine Nguyen, Natacha Broucqsault, Charlene Chaix, Stephane Roche, Jérôme D Robin, Catherine Vovan, Laurene Gerard, André Mégarbané, Jon Andoni Urtizberea, Remi Bellance, Christine Barnérias, Albert David, Bruno Eymard, Melanie Fradin, Véronique Manel, Sabrina Sacconi, Vincent Tiffreau, Fabien Zagnoli, Jean-Marie Cuisset, Emmanuelle Salort-Campana, Shahram Attarian, Rafaëlle Bernard, Nicolas Lévy, Frederique Magdinier
Short report: Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: results from the prospective TEDDY study (4 October, 2018)
Andreas Beyerlein, Ezio Bonifacio, Kendra Vehik, Markus Hippich, Christiane Winkler, Brigitte I Frohnert, Andrea K Steck, William A Hagopian, Jeffrey P Krischer, Åke Lernmark, Marian J Rewers, Jin-Xiong She, Jorma Toppari, Beena Akolkar, Stephen S Rich, Anette-G Ziegler

Original article: Genome-wide association study identifies seven novel loci associating with circulating cytokines and cell adhesion molecules in Finns (19 June, 2019)
Eeva Sliz, Marita Kalaoja, Ari Ahola-Olli, Olli Raitakari, Markus Perola, Veikko Salomaa, Terho Lehtimäki, Toni Karhu, Heimo Viinamäki, Marko Salmi, Kristiina Santalahti, Sirpa Jalkanen, Jari Jokelainen, Sirkka Keinänen-Kiukaanniemi, Minna Männikkö, Karl-Heinz Herzig, Marjo-Riitta Järvelin, Sylvain Sebert, Johannes Kettunen

Original article:
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis
(22 April, 2019)
Nao Otomo, Kazuki Takeda, Shunsuke Kawai, Ikuyo Kou, Long Guo, Mitsujiro Osawa, Cantas Alev, Noriaki Kawakami, Noriko Miyake, Naomichi Matsumoto, Yukuto Yasuhiko, Toshiaki Kotani, Teppei Suzuki, Koki Uno, Hideki Sudo, Satoshi Inami, Hiroshi Taneichi, Hideki Shigematsu, Kei Watanabe, Ikuho Yonezawa, Ryo Sugawara, Yuki Taniguchi, Shohei Minami, Kazuo Kaneko, Masaya Nakamura, Morio Matsumoto, Junya Toguchida, Kota Watanabe, Shiro Ikegawa

Original article:
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications
(25 May, 2019)
Lisa Jean Ewans, Alison Colley, Carles Gaston-Massuet, Angelica Gualtieri, Mark J Cowley, Mark James McCabe, Deepti Anand, Salil A Lachke, Luigi Scietti, Federico Forneris, Ying Zhu, Kevin Ying, Corrina Walsh, Edwin P Kirk, David Miller, Cecilia Giunta, David Sillence, Marcel Dinger, Michael Buckley, Tony Roscioli