日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Assessing the clinical application value of SNP-array in fetal central nervous system malformations

评估SNP芯片在胎儿中枢神经系统畸形中的临床应用价值

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00843-5
Li, Wei; Su, Jiasun; Lu, Weiliang; Tang, Xianglian; Zhou, Chaofan; Lan, Yueyun; Wei, Yuan; Huang, Limei; Luo, Jingrong; Ou, Shan; Tan, Shuyin; Wei, Shengkai; Jiang, Yaoyao; Su, Jingyu; Wang, Liang; Huang, Minpan; Luo, Jingsi; Huang, Peng
神经科学
发表日期：2025
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Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of MMP21 -Related Disorder and Further Refine INSYN2A Involvement in the Postnatal Cognitive Phenotype

通过10q26.13q26.2罕见间质缺失揭示隐性等位基因：MMP21相关疾病的产前诊断并进一步阐明INSYN2A在出生后认知表型中的作用

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70082
Su, Jiasun; Zhang, Shujie; Li, Wei; Wei, Yuan; Lin, Fei; Zhou, Chaofan; Tang, Xianglian; Lan, Yueyun; Huang, Minpan; Zhang, Qiang; Yi, Shang; Yang, Qi; Yi, Sheng; Zhou, Xunzhao; Qin, Zailong; Huang, Peng
神经科学
多发性骨髓瘤
发表日期：2025
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A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformities

CC2D1A无义变异与先天性异常、运动发育迟缓、肌张力低下和轻微畸形有关。

期刊:Heliyon
影响因子:3.6
doi:10.1016/j.heliyon.2024.e27946
Yi, Sheng; Tang, Xianglian; Zhang, Qiang; Liang, Yu; Huang, Jing; Zhang, Shujie; Huang, Limei; Yi, Shang; Huang, Minpan; Qin, Zailong; Luo, Jingsi
C2D1A
发育与干细胞
发表日期：2024
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A genetic variant in the MAST1 gene is associated with mega-corpus-callosum syndrome with hypoplastic cerebellar vermis, in a fetus

MAST1基因的遗传变异与胎儿期巨胼胝体综合征伴小脑蚓部发育不全有关。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.2358
Yi, Sheng; Tang, Xianglian; Chen, Fei; Wang, Linlin; Chen, Junjie; Yang, Zuojian; Huang, Minpan; Yi, Shang; Huang, Limei; Yang, Qi; Yang, Shuihua; Pan, Pingshan; Qin, Zailong; Luo, Jingsi
发育与干细胞
神经科学
发表日期：2024
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