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Open access

Bayesian approach to determining penetrance of pathogenic SDH variants

Diana E Benn, Ying Zhu, Katrina A Andrews, Mathilda Wilding, Emma L Duncan, Trisha Dwight, Richard W Tothill, John Burgess, Ashley Crook, Anthony J Gill, Rodney J Hicks, Edward Kim, Catherine Luxford, Helen Marfan, Anne Louise Richardson, Bruce Robinson, Arran Schlosberg, Rachel Susman, Lyndal Tacon, Alison Trainer, Katherine Tucker, Eamonn R Maher, Michael Field, Roderick J Clifton-Bligh

10.1136/jmedgenet-2018-105427

September 10, 2018

Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)

Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Weisheng Chen, Yue Ming, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E Posey, Bo Zhang, Zhihong Wu, Joshua D Wythe, Pengfei Liu, James R Lupski, Xinjian Yang, Nan Wu

10.1136/jmedgenet-2017-105224

August 17, 2018

Mutations in IRS4 are associated with central hypothyroidism

Charlotte A Heinen, Emmely M de Vries, Mariëlle Alders, Hennie Bikker, Nitash Zwaveling-Soonawala, Erica L T van den Akker, Boudewijn Bakker, Gera Hoorweg-Nijman, Ferdinand Roelfsema, Raoul C Hennekam, Anita Boelen, A S Paul van Trotsenburg, Eric Fliers

10.1136/jmedgenet-2017-105113

July 30, 2018

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Jeanna M McCuaig, Tracy L Stockley, Patricia Shaw, Michael Fung-Kee-Fung, Alon D Altman, James Bentley, Marcus Q Bernardini, Beatrice Cormier, Hal Hirte, Katharina Kieser, Andree MacMillan, Wendy S Meschino, Karen Panabaker, Renee Perrier, Diane Provencher, Kasmintan A Schrader, Kimberly Serfas, Eva Tomiak, Nora Wong, Sean S Young, Walter Henri Gotlieb, Paul Hoskins, Raymond H Kim, on behalf of the BRCA TtoT Community of Practice, Kimberly Dornan, Maria Farag, Prafull Ghatage, Kelly Grover, Andrea Hawrysh, Jacob Mcgee, Karen Schindeler, Marsha Speevak, Andrea Vaags, Anthony Vandersteen, Alon Altman, Kelly-Ann Baines, James Bentley, Marcus Bernardini, Béatrice Cormier, Lesa Dawson, Michael Fung-kee-fung, Christopher Giede, Walter Gotlieb, Paul Hoskins, Hal Hirte, Katharina Kieser, Will Foulkes, Korine Lapointe-Milot, Susie Lau, Dianne Miller, Patti Power, Diane Provencher, Shannon Salvador, Vanessa Samouëlian, Katia Tonkin, Ziggy Zeng, Daria Grafodatskaya, Suzanne Kamel-Reid, Wendy Meschino, Lynette Penney, Martin Somerville, Tracy Stockley, Eva Tomiak, Sean Young, Laurence Baret, Andrée Macmillan, Jeanna Mccuaig, Karen Panabaker, Kim Serfas, Nora Wong, Bojana Djordjevic, Patricia Shaw, Elisabeth Baugh, George Chong, Janet Girouxjoanne Kotsopoulos, Bryan Lo, Kelly Metcalfe, Renée Perrier, Joanne Power, Bekim Sadikovic, Kasmintan A Schrader, Sophie Sun, Heidi Thomas, Bernie Chodirker, Jane Green, Daria Grafodatskaya, Elizabeth Mccready, Jean Mcgowan-Jordan, Raymond Kim, Amanda Smith

10.1136/jmedgenet-2018-105472

July 24, 2018