-
Identification and validation of CARS1 p.E712V and NF1 p.Q2002X in sporadic Moyamoya disease across 30 trio pedigree
Author: Wang, Yue; Zou, Zhengxing; Chen, Gan; Zhang, Qian; Li, Yunzhu; Zhang, Zhengshan; Tang, Xiaonan; Liu, Simeng; Zhuang, Tao; Yu, Dan; Duan, Lian; Liu, Wanyang
Journal: NPJ GENOMIC MEDICINE. 2026; Vol. 11, Issue 1, pp. -. DOI: 10.1038/s41525-025-00539-8
-
Pharmacokinetic recall study of Estonian Biobank participants with novel genetic variants in CYP2C19 and CYP2D
Author: Krebs, Kristi; Luitva, Laura Birgit; Kore, Anette Caroline; Kokasaar, Raul; Joeloo, Maarja; Hudjashov, Georgi; Maal, Kadri; Storset, Elisabet; Wollmann, Birgit Malene; Karo-Astover, Liis; Fischer, Krista; Team, Estonian Biobank Research; Lauschke, Volker M.; Ingelman-Sundberg, Magnus; Molden, Espen; Irs, Alar; Oselin, Kersti; Lass, Jana; Milani, Lili
Journal: NPJ GENOMIC MEDICINE. 2026; Vol. 11, Issue 1, pp. -. DOI: 10.1038/s41525-025-00549-6
-
Genome-wide association study identified novel loci and gene-environment interaction for refractive error in childre
Author: Wang, Yuyao; Zhang, Yuzhou; Chen, Haoyu; Zhang, Xiu Juan; Zhang, Riping; Ng, Tsz Kin; Tham, Jenson A.; Kam, Ka Wai; Tam, Pancy O. S.; Young, Alvin L.; Wei, Yingying; Zhang, Mingzhi; Pang, Chi Pui; Tham, Clement C.; Yam, Jason C.; Chen, Li Jia
Journal: NPJ GENOMIC MEDICINE. 2025; Vol. 10, Issue 1, pp. -. DOI: 10.1038/s41525-025-00504-5
-
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysi
Author: Chui, Martin Man-Chun; Kwong, Anna Ka-Yee; Leung, Hiu Yu Cherie; Pang, Chingyiu; Scheller, Ines F.; Wong, Sheila Suet-Na; Fung, Cheuk-Wing; Yepez, Vicente A.; Gagneur, Julien; Mak, Christopher Chun-Yu; Chung, Brian Hon-Yin
Journal: NPJ GENOMIC MEDICINE. 2025; Vol. 10, Issue 1, pp. -. DOI: 10.1038/s41525-025-00493-5
-
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testin
Author: Jiang, Lu; Mai, Zhuoyao; Peng, Jiguang; Du, Tao; Wang, Weifeng; Chen, Xiran; Jiang, Chen; Luo, Yantao; Chen, Hui; Song, Lijie; Ouyang, Nengyong; Chen, Chao; Yuan, Ping
Journal: NPJ GENOMIC MEDICINE. 2025; Vol. 10, Issue 1, pp. -. DOI: 10.1038/s41525-025-00471-x
-
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assay
Author: Chen, Fuying; Wei, Ruoqu; Wang, Yumeng; Cao, Qiaoyu; Wang, Jianbo; Wang, Chenfei; Yao, Dingjin; Yao, Zhirong; Ni, Cheng; Li, Ming
Journal: NPJ GENOMIC MEDICINE. 2025; Vol. 10, Issue 1, pp. -. DOI: 10.1038/s41525-025-00466-8
