Special collections

Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations
Naixin Xu, Weihui Shi, Xianling Cao, Xuanyou Zhou, Li Jin, He-Feng Huang, Songchang Chen, Chenming Xu

Journal of Medical Genetics Jan 2023, jmg-2022-108920; DOI: 10.1136/jmg-2022-108920
Variants in BSN gene associated with epilepsy with favourable outcome
Tingting Ye, Jiwei Zhang, Jie Wang, Song Lan, Tao Zeng, Huaili Wang, Xuelian He, Bing-Mei Li, Weiwen Deng, Wei-Ping Liao, Xiao-Rong Liu

Journal of Medical Genetics Dec 2022, jmg-2022-108865; DOI: 10.1136/jmg-2022-108865
UK recommendations for SDHA germline genetic testing and surveillance in clinical practice
Helen Hanson, Miranda Durkie, Fiona Lalloo, Louise Izatt, Terri P McVeigh, Jackie A Cook, Carole Brewer, James Drummond, Samantha Butler, Treena Cranston, Ruth Casey, Tricia Tan, Daniel Morganstein, Diana M Eccles, Marc Tischkowitz, Clare Turnbull, Emma Roisin Woodward, Eamonn R Maher

Journal of Medical Genetics Feb 2023, 60 (2) 107-111; DOI: 10.1136/jmedgenet-2021-108355
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study
Mollie E Barnard, Huong Meeks, Elke A Jarboe, James Albro, Nicola J Camp, Jennifer A Doherty

Journal of Medical Genetics Feb 2023, 60 (2) 119-127; DOI: 10.1136/jmedgenet-2021-108402
Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes
Ulrik Kristoffer Stoltze, Thomas Van Overeem Hansen, Jesper Sune Brok, Karen Grønskov, Asuman Z Tumer, Lise Barlebo Ahlborn, Kjeld Schmiegelow, Karin A W Wadt

Journal of Medical Genetics Feb 2023, 60 (2) 128-130; DOI: 10.1136/jmedgenet-2021-108335
A 132 bp deletion affecting the KCNQ1OT1 gene associated with Silver-Russell syndrome clinical phenotype
Marie Véronique Gaudet, Eric Pierre Allain, Lynne M Gallant, Heleen H Arts, Mouna Ben Amor

Journal of Medical Genetics Feb 2023, 60 (2) 134-136; DOI: 10.1136/jmedgenet-2021-108288
GLRA2 gene mutations cause high myopia in humans and mice
Qi Tian, Ping Tong, Gong Chen, Meichun Deng, Tian'e Cai, Runyi Tian, Zimin Zhang, Kun Xia, Zhengmao Hu

Journal of Medical Genetics Feb 2023, 60 (2) 193-203; DOI: 10.1136/jmedgenet-2022-108425
Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations
Che-Yuan Kuo, Ming-Yi Chung, Shih-Jen Chen

Journal of Medical Genetics Jan 2023, jmg-2022-108918; DOI: 10.1136/jmg-2022-108918
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, Tracy Fletcher, Claire Hardcastle, Javier Lopez, Sarah E Hunt, Patrick Short, Panagiotis I Sergouniotis, Michel Michaelides, Andrew Webster, Fiona Cunningham, Simon C Ramsden, Dalia Kasperaviciute, David R Fitzpatrick, Genomics England Research Consortium, Graeme C Black, Jamie M Ellingford

Journal of Medical Genetics Jan 2023, jmedgenet-2022-108618; DOI: 10.1136/jmg-2022-108618
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study
Chenghai Zhang, Dandan Zhu, Yurong Qu, Min Shi, Jingjiao Ma, Yebo Peng, Bowen Zhu, Houquan Tao, Tonghui Ma, TieYing Hou

Journal of Medical Genetics Jan 2023, jmg-2022-108816; DOI: 10.1136/jmg-2022-108816

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