Journal of Medical Genetics: 54 (3)

Neurogenetics

The importance of dynamic re-analysis in diagnostic whole exome sequencing (29 November, 2016)
Anna C Need, Vandana Shashi, Kelly Schoch, Slavé Petrovski, David B Goldstein

Original article:
Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene
(13 October, 2016)
M Balasubramanian, H Lord, S Levesque, H Guturu, F Thuriot, G Sillon, A M Wenger, D L Sureka, T Lester, D S Johnson, J Bowen, A R Calhoun, D H Viskochil, DDD Study, G Bejerano, J A Bernstein, D Chitayat

Original article:
Carriers of a VEGFA enhancer polymorphism selectively binding CHOP/DDIT3 are predisposed to increased circulating levels of thyroid-stimulating hormone
(14 September, 2016)
Tarunveer Singh Ahluwalia, Jesper Thorvald Troelsen, Marie Balslev-Harder, Jette Bork-Jensen, Betina Heinsbæk Thuesen, Charlotte Cerqueira, Allan Linneberg, Niels Grarup, Oluf Pedersen, Torben Hansen, Louise Torp Dalgaard

Original article:
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima
(5 October, 2016)
Katrin Koehler, Miroslav P. Milev, Keshika Prematilake, Felix Reschke, Susann Kutzner, Ramona Jühlen, Dana Landgraf, Eda Utine, Filiz Hazan, Gulden Diniz, Markus Schuelke, Angela Huebner, Michael Sacher

Original article:
CEP78 is mutated in a distinct type of Usher syndrome
(14 September, 2016)
Qing Fu, Mingchu Xu, Xue Chen, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
Original article:
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability
(30 September, 2016)
Simon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, Maher Shahrour, Anik St-Denis, Avraham Shaag, Nadira Damseh, Françoise Le Deist, Yenan Bryceson, Bassam Abu-Libdeh, Philippe M Campeau, Taroh Kinoshita, Orly Elpeleg

Original article:
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
(27 October, 2016)
Atsushi Ishii, Jing-Qiong Kang, Cara C Schornak, Ciria C Hernandez, Wangzhen Shen, Joseph C Watkins, Robert L Macdonald, Shinichi Hirose

Short report: A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome (5 December, 2016)
Daniel Z Bar, Martin F Arlt, Joan F Brazier, Wendy E Norris, Susan E Campbell, Peter Chines, Delphine Larrieu, Stephen P Jackson, Francis S Collins, Thomas W Glover, Leslie B Gordon