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Molecular Genetics & Genomic Medicine|October 5, 2023
Defective C3d caused by C3 p.W1034R in inherited atypical hemolytic uremic syndromeMasafumi Tsuchida, Shin Goto, Hirofumi Watanabe, et al.
Molecular Genetics & Genomic Medicine|September 28, 2023
Prenatal whole-exome sequencing in fetuses with increased nuchal translucencyChunge Cao, Fang Liu, Yan Yang, et al.
Molecular Genetics & Genomic Medicine|October 3, 2023
RAF1 mutation leading to hypertrophic cardiomyopathy in a Chinese family with a history of sudden cardiac death: A diagnostic insight into Noonan syndromeJingjing Zheng, Longyun Peng, Ruofei Cheng, et al.
Molecular Genetics & Genomic Medicine|October 3, 2023
A novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature reviewYang Zheng, Qunfang Rao, Yiru Han, et al.
Molecular Genetics & Genomic Medicine|September 23, 2023
Clinical application of targeted long read sequencing in prenatal beta-thalassemia testing and genetic counselingHui-Lin Chin, Miles C Benton, Lin Yang, et al.
Molecular Genetics & Genomic Medicine|October 3, 2024
Application of Whole-Exome Sequencing in the Prenatal Diagnosis of Foetuses With Central Nervous System AbnormalitiesCaiqun Luo, Erya Wen, Yang Liu, et al.
Molecular Genetics & Genomic Medicine|September 12, 2024
Analysis of the Haematological Phenotype and Molecular Characteristics of Rare Abnormal HaemoglobinYanfen Ge, Guansheng Zheng, Luhua Xian, et al.
Molecular Genetics & Genomic Medicine|October 14, 2024
Genomic Correlation, Shared Loci, and Causal Relationship Between Bullous Pemphigoid and Atopic Dermatitis: A Large-Scale Genome-Wide Cross-Trait AnalysisQing Wang, Xuehua Wang, Qizhen Zhuang, et al.
Molecular Genetics & Genomic Medicine|September 17, 2024
Clinical Characteristics, Genetic Analysis, and Literature Review of Cornelia de Lange Syndrome Type 4 Associated With a RAD21 VariantXinyu Yue, Meiping Chen, Xiaoan Ke, et al.
Molecular Genetics & Genomic Medicine|June 5, 2023
A novel heterozygous PKD1 variant causing alternative splicing in a Chinese family with autosomal dominant polycystic kidney diseaseQianying Zhao, Yu Tan, Xiao Xiao, et al.
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