Genetic screening/counselling

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia
Maria Tarilonte, Patricia Ramos, Jennifer Moya, Guilermo Fernandez-Sanz, Fiona Blanco-Kelly, Saoud Tahsin Swafiri, Cristina Villaverde, Raquel Romero, Alejandra Tamayo, Blanca Gener, Patrick Calvas, Carmen Ayuso, Marta Corton

Journal of Medical Genetics May 2022, 59 (5) 428-437; DOI: 10.1136/jmedgenet-2020-106932
Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis
Weisha Luan, Chen-Zhi Hao, Jia-Qi Li, Qing Wei, Jing-Yu Gong, Yi-Ling Qiu, Yi Lu, Cong-Huan Shen, Qiang Xia, Xin-Bao Xie, Mei-Hong Zhang, Kuerbanjiang Abuduxikuer, Zhong-Die Li, Li Wang, Qing-He Xing, A S Knisely, Jian-She Wang

Journal of Medical Genetics Aug 2021, 58 (8) 514-525; DOI: 10.1136/jmedgenet-2019-106706
Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment
Pingping Song, Yuqing Guan, Xia Chen, Chaochen Wu, An Qiao, Haishan Jiang, Qi Li, Yingwei Huang, Wei Huang, Miaojing Xu, Ouattara Niemtiah, Chao Yuan, Wei Li, Liang Zhou, Zhongju Xiao, Suyue Pan, Yafang Hu

Journal of Medical Genetics Sep 2021, 58 (9) 619-627; DOI: 10.1136/jmedgenet-2020-106925
Risk of metastatic pheochromocytoma and paraganglioma in SDHx mutation carriers: a systematic review and updated meta-analysis
Hansong Lee, Seongdo Jeong, Yeuni Yu, Junho Kang, Hokeun Sun, Je-Keun Rhee, Yun Hak Kim

Journal of Medical Genetics Apr 2020, 57 (4) 217-225; DOI: 10.1136/jmedgenet-2019-106324
Co-occurrence of germline BRCA1 and CDH1 pathogenic variants
Marie-Charlotte Villy, Emmanuelle Mouret-Fourme, Lisa Golmard, Véronique Becette, Nasrine Callet, Gilles Marx, Chrystelle Colas, Dominique Lamarque, Etienne Rouleau, Dominique Stoppa-Lyonnet

Journal of Medical Genetics Jun 2021, 58 (6) 357-361; DOI: 10.1136/jmedgenet-2020-106972
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes
Martijn Baas, Elise Bette Burger, Ans MW van den Ouweland, Steven ER Hovius, Annelies de Klein, Christianne A van Nieuwenhoven, Robert Jan H Galjaard

Journal of Medical Genetics Jun 2021, 58 (6) 362-368; DOI: 10.1136/jmedgenet-2020-106948
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants
Kasper A Overbeek, Mar DM Rodríguez-Girondo, Anja Wagner, Nienke van der Stoep, Peter C van den Akker, Jan C Oosterwijk, Theo A van Os, Lizet E van der Kolk, Hans F A Vasen, Frederik J Hes, Djuna L Cahen, Marco J Bruno, Thomas P Potjer

Journal of Medical Genetics Apr 2021, 58 (4) 264-269; DOI: 10.1136/jmedgenet-2019-106562
Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients
Michael Volodarsky, Jennifer Kerkhof, Alan Stuart, Michael Levy, Lauren I Brady, Mark Tarnopolsky, Hanxin Lin, Peter Ainsworth, Bekim Sadikovic

Journal of Medical Genetics Apr 2021, 58 (4) 284-288; DOI: 10.1136/jmedgenet-2019-106641
Molecular characterisation of oncogenic urothelial mosaic mutations in patients with extensive keratinocytic epidermal naevi
Alejandra Gadea, Inmaculada Hernández-Muñoz, Asunción Vicente, Evelyn Andrades, Miriam García-Calvente, Laura Camacho, Conchi Fernandez-Rodríguez, Beatriz Bellosillo, Ramon Pujol, Agustín Toll

Journal of Medical Genetics Sep 2020, 57 (9) 601-604; DOI: 10.1136/jmedgenet-2019-106296
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
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

Journal of Medical Genetics Aug 2020, 57 (8) 571-580; DOI: 10.1136/jmedgenet-2019-106145

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