Journal of Medical Genetics: 57 (8)

Cancer genetics

Review: Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation (9 March, 2020)
Alvaro N Monteiro, Peter Bouwman, Arne N Kousholt, Diana M Eccles, Gael A Millot, Jean-Yves Masson, Marjanka K Schmidt, Shyam K Sharan, Ralph Scully, Lisa Wiesmüller, Fergus Couch, Maaike P G Vreeswijk
Original research:
Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma
(12 February, 2020) Free
Daniel Forrest Comiskey Jr., Huiling He, Sandya Liyanarachchi, Mehek S Sheikh, Luke K Genutis, Isabella V Hendrickson, Lianbo Yu, Pamela L Brock, Albert de la Chapelle
Short report:
Germline BRCA1 and BRCA2 testing for breast cancer survivors
(11 September, 2019)
Jennifer Wiggins, Anne McLoughlin, Angela George, Alistair Ring, Zoe Kemp

Original research: Investigating the genetic susceptibility to exertional heat illness (13 February, 2020)
Lois Gardner, Dorota M Miller, Catherine Daly, Pawan K Gupta, Carol House, Daniel Roiz de Sa, Marie-Anne Shaw, Philip M Hopkins
Original research:
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup
(11 March, 2020)
Dominique P Germain, João Paulo Oliveira, Daniel G Bichet, Han-Wook Yoo, Robert J Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R Wilcox, David G Warnock

Original research: Contribution of de novo and inherited rare CNVs to very preterm birth (12 February, 2020)
Hilary S Wong, Megan Wadon, Alexandra Evans, George Kirov, Neena Modi, Michael C O'Donovan, Anita Thapar

Original research: Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort (31 January, 2020)
Xinran Dong, Bo Liu, Lin Yang, Huijun Wang, Bingbing Wu, Renchao Liu, Hongbo Chen, Xiang Chen, Sha Yu, Bin Chen, Sujuan Wang, Xiu Xu, Wenhao Zhou, Yulan Lu
Short report:
Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion
(30 January, 2020)
Xunde Wang, Julia Z Xu, Anna Conrey, Laurel Mendelsohn, Daniel Shriner, Mehdi Pirooznia, Swee Lay Thein

Original research: Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting (19 June, 2020)
Minghui Bao, Ping Li, Qifu Li, Hui Chen, Ying Zhong, Shuangyue Li, Ling Jin, Wenjie Wang, Zhenzhen Chen, Jiuchang Zhong, Bin Geng, Yuxin Fan, Xinchun Yang, Jun Cai