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Spinal muscular atrophy among US Hutterites: Phenotype variability in the setting of conserved ancestral haplotype and 4 SMN2 copie
Author: Butchbach, Matthew E. R.; Kale, Jennifer J.; Simeone, Sarah D.; Chen, Jin Yun Helen; Anderson, Rebecca L.; Prichina, Adriana Y.; Del Gaudio, Daniela; Stabley, Deborah L.; Holbrook, Jennifer; Culcea, Eliad; Ober, Carole; Swoboda, Kathryn J
Journal: GENETICS IN MEDICINE. 2026; Vol. 28, Issue 4, pp. -. DOI: 10.1016/j.gim.2026.102535
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Deleterious, protein-altering variants in GSPT2 are putatively associated with an X-linked neurodevelopmental disorder with intellectual disability, language impairment, autism, and epileps
Author: Wei, Yuda; Liu, Kai; Mi, Changrui; Yu, Jing; Sun, Ruopeng; Miao, Shengxing; Li, Haiqi; Xue, Huili; Liu, Xiaxia; Hu, Yanyan; Qi, Yongzhen; Zhang, Jie; Tong, Lili; Zhao, Chen; Jiang, Liangqian; Teng, Juan; Geng, Xingzhu; Gai, Chengcheng; Xu, Hongyan; Li, Lin; Che, Fengyuan; Gao, Chunhai; Zhao, Xiangyu
Journal: GENETICS IN MEDICINE. 2026; Vol. 28, Issue 3, pp. -. DOI: 10.1016/j.gim.2025.101668
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Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestation
Author: Deng, Mei; Liu, Cheng; Shen, Fang; Zheng, Yu; Luo, Zhenqing; Wang, Hua; Zhu, Guanghui; Yang, Yongjia
Journal: GENETICS IN MEDICINE. 2026; Vol. 28, Issue 3, pp. -. DOI: 10.1016/j.gim.2025.101664
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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over tim
Author: Tshering, Kezang C.; DiStefano, Marina T.; Oza, Andrea M.; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T. A.; Buonfiglio, Paula I.; Charfeddine, Cherine; Dalamon, Viviana; del Castillo, Ignacio; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A.; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A.; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J.; Rehm, Heidi L.; Azaiez, Hela; Abou Tayoun, Ahmad N.; Amr, Sami S.
Journal: GENETICS IN MEDICINE. 2025; Vol. 27, Issue 5, pp. -. DOI: 10.1016/j.gim.2025.101392
