Genetic screening/counselling

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group
Amy Taylor, Angela F Brady, Ian M Frayling, Helen Hanson, Marc Tischkowitz, Clare Turnbull, Lucy Side

Journal of Medical Genetics Jun 2018, 55 (6) 372-377; DOI: 10.1136/jmedgenet-2017-105188
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation
Monika Morak, Ayseguel Ibisler, Gisela Keller, Ellen Jessen, Andreas Laner, Daniela Gonzales-Fassrainer, Melanie Locher, Trisari Massdorf, Anke M Nissen, Anna Benet-Pagès, Elke Holinski-Feder

Journal of Medical Genetics Apr 2018, 55 (4) 240-248; DOI: 10.1136/jmedgenet-2017-104744
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek HK Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward

Journal of Medical Genetics Feb 2018, 55 (2) 89-96; DOI: 10.1136/jmedgenet-2017-104892
A liminal stage after predictive testing for Huntington disease
Marcela Gargiulo, Sophie Tezenas du Montcel, Marie France Jutras, Ariane Herson, Cecile Cazeneuve, Alexandra Durr

Journal of Medical Genetics Aug 2017, 54 (8) 511-520; DOI: 10.1136/jmedgenet-2016-104199
Genetics implicate common mechanisms in autism and schizophrenia: synaptic activity and immunity
Xiaoming Liu, Zhengwei Li, Conghai Fan, Dongli Zhang, Jiao Chen

Journal of Medical Genetics Aug 2017, 54 (8) 511-520; DOI: 10.1136/jmedgenet-2016-104487
GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss
Guangqian Xing, Jun Yao, Chunyu Liu, Qinjun Wei, Xuli Qian, Lingxin Wu, Yajie Lu, Xin Cao

Journal of Medical Genetics Jun 2017, 54 (6) 426-430; DOI: 10.1136/jmedgenet-2016-104320
Impact of subsidies on cancer genetic testing uptake in Singapore
Shao-Tzu Li, Jeanette Yuen, Ke Zhou, Nur Diana Binte Ishak, Yanni Chen, Marie Met-Domestici, Sock Hoai Chan, Yee Pin Tan, John Carson Allen, Soon Thye Lim, Khee Chee Soo, Joanne Ngeow

Journal of Medical Genetics Apr 2017, 54 (4) 254-259; DOI: 10.1136/jmedgenet-2016-104302
Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum
Ai-Ling Ji, Xia Zhang, Wei-Wei Chen, Wen-Juan Huang

Journal of Medical Genetics Mar 2017, 54 (3) 145-154; DOI: 10.1136/jmedgenet-2016-104271
Risk assessment of maternally inherited SDHD paraganglioma and phaeochromocytoma
Nelly Burnichon, Jean-Michaël Mazzella, Delphine Drui, Laurence Amar, Jérôme Bertherat, Isabelle Coupier, Brigitte Delemer, Isabelle Guilhem, Philippe Herman, Véronique Kerlan, Antoine Tabarin, Nelly Wion, Khadija Lahlou-Laforet, Judith Favier, Anne-Paule Gimenez-Roqueplo

Journal of Medical Genetics Feb 2017, 54 (2) 125-133; DOI: 10.1136/jmedgenet-2016-104297
The performance of deleteriousness prediction scores for rare non-protein-changing single nucleotide variants in human genes
Xiaoming Liu, Chang Li, Eric Boerwinkle

Journal of Medical Genetics Feb 2017, 54 (2) 134-144; DOI: 10.1136/jmedgenet-2016-104369

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