Novel variants in <i>TNRC6B</i> cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormalityQi Yang, Jingsi Luo, Shan Ou et al.|Molecular Genetics & Genomic Medicine|2024Cited by 4
A genetic variant in the <i>MAST1</i> gene is associated with mega‐corpus‐callosum syndrome with hypoplastic cerebellar vermis, in a fetusSheng Yi, Jingsi Luo, Xianglian Tang et al.|Molecular Genetics & Genomic Medicine|2024Cited by 4
Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 variationQiang Zhang, Zailong Qin, Qi Yang et al.|BMC Medical Genomics|2024Cited by 4
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case reportXianglian Tang, Jingsi Luo, Shang Yi et al.|Heliyon|2023Cited by 4
A nonsense CC2D1A variant is associated with congenital anomalies, motor delay, hypotonia, and slight deformitiesSheng Yi, Jingsi Luo, Xianglian Tang et al.|Heliyon|2024Cited by 3