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Effects of higher-than-expected control population allele frequency on classification of loss-of-function variants in cancer susceptibility genes

较高的对照群体等位基因频率对癌症易感基因损失功能变异分类的影响研究

Miriam J Smith,George J Burghel,D Gareth Evans

Journal of medical genetics. 2025 Apr 11:jmg-2025-110703. DOI:10.1136/jmg-2025-110703

Economic evaluation of personalised versus conventional risk assessment for women who have undergone testing for hereditary breast and ovarian cancer genes: a modelling study

遗传性乳腺癌和卵巢癌基因检测女性的个性化与传统风险评估的经济学评价建模研究

Qin Xi,Nichola Fennell,Stephanie Archer et al.

Journal of medical genetics. 2025 Apr 10:jmg-2024-109948. DOI:10.1136/jmg-2024-109948

LSM1 c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort

LSM1 c.231+4A>C热点变异与一种新型神经发育障碍相关：首个患者队列

Sivan Reytan Miron,Alina Kurolap,Bassam Abu-Libdeh et al.

Journal of medical genetics. 2025 Apr 9:jmg-2024-110574. DOI:10.1136/jmg-2024-110574

Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families

两个家族中与新型FBN2变异相关的矮身材、短指和关节挛缩症

Petra Loid,Fan Wang,Otto Lennartsson et al.

Journal of medical genetics. 2025 Apr 8:jmg-2024-110533. DOI:10.1136/jmg-2024-110533

De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy

ATP11A基因错义杂合新发变异与难治性局灶性癫痫相关

Zi-Long Ye,Nan-Xiang Shen,Xiang-Yun Luo et al.

Journal of medical genetics. 2025 Apr 4:jmg-2024-110540. DOI:10.1136/jmg-2024-110540

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