Reproductive medicine

Comprehensive preimplantation genetic testing for balanced insertional translocation carriers
Shuo Zhang, Zhenle Pei, Min Xiao, Jing Zhou, Bin Hu, Saijuan Zhu, Xiaoxi Sun, Junping Wu, Caixia Lei, Congjian Xu

Journal of Medical Genetics Aug 2024, 61 (8) 794-802; DOI: 10.1136/jmg-2024-109851
The crucial role of titin in fetal development: recurrent miscarriages and bone, heart and muscle anomalies characterise the severe end of titinopathies spectrum
Maria Francesca Di Feo, Victoria Lillback, Manu Jokela, Meriel McEntagart, Tessa Homfray, Elisa Giorgio, Guido C Casalis Cavalchini, Alfredo Brusco, Maria Iascone, Luigina Spaccini, Patrizia D'Oria, Marco Savarese, Bjarne Udd

Journal of Medical Genetics Sep 2023, 60 (9) 866-873; DOI: 10.1136/jmg-2022-109018
Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
Alison C Kay, Jonathan Wells, Nina Hallowell, Anne Goriely

Journal of Medical Genetics Sep 2023, 60 (9) 925-931; DOI: 10.1136/jmg-2023-109183
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility
Chunyu Liu, Ying Shen, Shuyan Tang, Jiaxiong Wang, Yiling Zhou, Shixiong Tian, Huan Wu, Jiangshan Cong, Xiaojin He, Li Jin, Yunxia Cao, Yihong Yang, Feng Zhang

Journal of Medical Genetics Feb 2023, 60 (2) 137-143; DOI: 10.1136/jmedgenet-2021-108271
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
Wensheng Liu, Xiaoli Wei, Xiaoyan Liu, Gaowen Chen, Xiaoya Zhang, Xiaomei Liang, Vladimir Isachenko, Yanwei Sha, Yifeng Wang

Journal of Medical Genetics Feb 2023, 60 (2) 154-162; DOI: 10.1136/jmedgenet-2021-108137
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Anna Abulí, Mar Costa-Roger, Marta Codina-Solà, Irene Valenzuela, Jordi Leno-Colorado, Eulàlia Rovira-Moreno, Anna Cueto-González, Paula Fernández-Álvarez, Elena García-Arumí, Ivon Cuscó, Eduardo F Tizzano

Journal of Medical Genetics Jun 2023, 60 (6) 540-546; DOI: 10.1136/jmg-2022-108607
FSIP2 plays a role in the acrosome development during spermiogenesis
Rui Zheng, Yan Wang, Yaqian Li, Juncen Guo, Yuting Wen, Chuan Jiang, Yihong Yang, Ying Shen

Journal of Medical Genetics Mar 2023, 60 (3) 254-264; DOI: 10.1136/jmedgenet-2021-108406
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities
Lucie Pierron, Sophie Tezenas du Montcel, Anna Heinzmann, Giulia Coarelli, Delphine Héron, Solveig Heide, Ariane Herson, Juliette Hennessy, Elodie Petit, Marcela Gargiulo, Alexandra Durr

Journal of Medical Genetics Apr 2023, 60 (4) 346-351; DOI: 10.1136/jmg-2022-108477
Sequencing of the ZMYND15 gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
Yuting Wen, Xiang Wang, Rui Zheng, Siyu Dai, Jinhui Li, Yihong Yang, Ying Shen

Journal of Medical Genetics Apr 2023, 60 (4) 380-390; DOI: 10.1136/jmg-2022-108727
Biallelic variants in ZFP36L2 cause female infertility characterised by recurrent preimplantation embryo arrest
Wei Zheng, Qian-Qian Sha, Huiling Hu, Fei Meng, Qinwei Zhou, Xueqin Chen, Shuoping Zhang, Yifan Gu, Xian Yan, Lei Zhao, Yurong Zong, Liang Hu, Fei Gong, Guangxiu Lu, Heng-Yu Fan, Ge Lin

Journal of Medical Genetics Sep 2022, 59 (9) 850-857; DOI: 10.1136/jmedgenet-2021-107933

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