Genetic Variation

ZFHX3 variants cause childhood partial epilepsy and infantile spasms with favourable outcomes
Ming-Feng He, Li-Hong Liu, Sheng Luo, Juan Wang, Jia-Jun Guo, Peng-Yu Wang, Qiong-Xiang Zhai, Su-Li He, Dong-Fang Zou, Xiao-Rong Liu, Bing-Mei Li, Hai-Yan Ma, Jing-Da Qiao, Peng Zhou, Na He, Yong-Hong Yi, Wei-Ping Liao

Journal of Medical Genetics Mar 2024, jmg-2023-109725; DOI: 10.1136/jmg-2023-109725
A comparative medical genomics approach may facilitate the interpretation of rare missense variation
Bushra Haque, George Guirguis, Meredith Curtis, Hera Mohsin, Susan Walker, Michelle M Morrow, Gregory Costain

Journal of Medical Genetics Mar 2024, jmg-2023-109760; DOI: 10.1136/jmg-2023-109760
Comparing the frequency of variants of uncertain significance (VUS) between ancestry groups in a paediatric epilepsy cohort
Bree E Martin, Tristan Sands, Louise Bier, Amanda Bergner, Amelia K Boehme, Natalie Lippa

Journal of Medical Genetics Mar 2024, jmg-2023-109450; DOI: 10.1136/jmg-2023-109450
NASP gene contributes to autism by epigenetic dysregulation of neural and immune pathways
Sipeng Zhang, Jie Yang, Dandan Ji, Xinyi Meng, Chonggui Zhu, Gang Zheng, Joseph Glessner, Hui-Qi Qu, Yuechen Cui, Yichuan Liu, Wei Wang, Xiumei Li, Hao Zhang, Zhanjie Xiu, Yan Sun, Ling Sun, Jie Li, Hakon Hakonarson, Jin Li, Qianghua Xia

Journal of Medical Genetics Mar 2024, jmg-2023-109385; DOI: 10.1136/jmg-2023-109385
Variant reclassification and clinical implications
Nicola Walsh, Aislinn Cooper, Adrian Dockery, James J O'Byrne

Journal of Medical Genetics Mar 2024, 61 (3) 207-211; DOI: 10.1136/jmg-2023-109488
CCDC66 mutations are associated with high myopia through affected cell mitosis
Xiaozhen Chen, Ping Tong, Ying Jiang, Zhe Cheng, Liyu Zang, Zhikuan Yang, Weizhong Lan, Kun Xia, Zhengmao Hu, Qi Tian

Journal of Medical Genetics Mar 2024, 61 (3) 262-269; DOI: 10.1136/jmg-2023-109434
Functional annotation with expression validation identifies novel metastasis-relevant genes from post-GWAS risk loci in sporadic colorectal carcinomas
Lai Fun Thean, Michelle Wong, Michelle Lo, Iain Tan, Evelyn Wong, Fei Gao, Emile Tan, Choong Leong Tang, Peh Yean Cheah

Journal of Medical Genetics Mar 2024, 61 (3) 276-283; DOI: 10.1136/jmg-2023-109517
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Lilach Benyamini, Orit Reish, Tzipora Falik-Zaccai, Gali Ben-Gad, Raya Rod, Reeval Segel, Katherine Kim, Barabra Burton, Catherine E Keegan, Mallory Wagner, Lindsay B Henderson, Nofar Mor, Ortal Barel, Yoel Hirsch, Vardiella Meiner, Orly Elpeleg, Tamar Harel, Hagar Mor-Shakad

Journal of Medical Genetics Mar 2024, 61 (3) 289-293; DOI: 10.1136/jmg-2023-109504
Mosaic RASopathies concept: different skin lesions, same systemic manifestations?
Marie-Anne Morren, Heidi Fodstad, Hilde Brems, Nicola Bedoni, Emmanuella Guenova, Martine Jacot-Guillarmod, Kanetee Busiah, Fabienne Giuliano, Michel Gilliet, Isis Atallah

Journal of Medical Genetics Jan 2024, jmg-2023-109306; DOI: 10.1136/jmg-2023-109306
Evidence of a genetic background predisposing to complex regional pain syndrome type 1
Samiha S Shaikh, Andreas Goebel, Michael C Lee, Michael S Nahorski, Nicholas Shenker, Yunisa Pamela, Ichrak Drissi, Christopher Brown, Gillian Ison, Maliha F Shaikh, Anoop Kuttikat, William A Woods, Abhishek Dixit, Kaitlin Stouffer, Murray CH Clarke, David K Menon, C Geoffrey Woods

Journal of Medical Genetics Feb 2024, 61 (2) 163-170; DOI: 10.1136/jmg-2023-109236

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