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BMC Medical Genomics|January 7, 2021
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentationJianbo Wang, Weisheng Li, Naihui Zhou, et al.
BMC Medical Genomics|January 7, 2021
DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot studyShaoyan Chang, Yubo Wang, Yu Xin, et al.
BMC Medical Genomics|January 13, 2021
Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markersMeiying Cai, Na Lin, Xuemei Chen, et al.
BMC Medical Genomics|June 9, 2021
Correlating genomic copy number alterations with clinicopathologic findings in 75 cases of hepatocellular carcinomaGang Peng, Hongyan Chai, Weizhen Ji, et al.
BMC Medical Genomics|June 20, 2021
A prenatal diagnosis case of partial duplication 21q21.1-q21.2 with normal phenotype maternally inheritedChunyan Jin, Zhiping Gu, Xiaohan Jiang, et al.
BMC Medical Genomics|June 27, 2021
Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditariaLu Cao, Ruixue Zhang, Liang Yong, et al.
BMC Medical Genomics|June 1, 2022
How does re-classification of variants of unknown significance (VUS) impact the management of patients at risk for hereditary breast cancer?Ava Kwong, Cecilia Yuen Sze Ho, Vivian Yvonne Shin, et al.
BMC Medical Genomics|June 2, 2022
Carriage of mutations R462Q (rs 486907) and D541E (rs 627928) of the RNASEL gene and risk factors in patients with prostate cancer in Burkina FasoEssonan Kadanga, Abdou Azaque Zouré, Théodora M Zohoncon, et al.
BMC Medical Genomics|June 6, 2022
The effect of hemolysis on quality control metrics for noninvasive prenatal testingYaya Guo, Dandan Yu, Kaisu Zhou, et al.
BMC Medical Genomics|December 13, 2022
Construction of an lncRNA model for prognostic prediction of bladder cancerChanglong Shi, Yifei Li, Enming Wan, et al.
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