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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

Genetic obesity: next-generation sequencing results of 1230 patients with obesity

Lotte Kleinendorst, Maarten P G Massink, Mellody I Cooiman, Mesut Savas, Olga H van der Baan-Slootweg, Roosje J Roelants, Ignace C M Janssen, Hanne J Meijers-Heijboer, Nine V A M Knoers, Hans Kristian Ploos van Amstel, Elisabeth F C van Rossum, Erica L T van den Akker, Gijs van Haaften, Bert van der Zwaag, Mieke M van Haelst, F J Berends, E O Aarts, S Bouma-de Jongh, I Von Rosenstiel, E G A H van mil, C J De Groot, H E Veenstra-knol, J B G m verheij, K E Stuurman, V L Wester, Y M C hendriks, M Bakker

10.1136/jmedgenet-2018-105315

July 3, 2018

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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

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