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BMC Medical Genomics|April 18, 2019
Young adults' attitudes to sharing whole-genome sequencing information: a university-based surveyPepita Barnard, Sarah Sharples, Brian J Thomson, et al.
BMC Medical Genomics|March 12, 2022
Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalisChen Cheng, Xiuxiu Li, Sheng Zhao, et al.
BMC Medical Genomics|March 21, 2022
Association of gene polymorphisms in FBN1 and TGF-β signaling with the susceptibility and prognostic outcomes of Stanford type B aortic dissectionLing Sun, Yafei Chang, Peipei Jiang, et al.
BMC Medical Genomics|March 29, 2022
Integrative analyses of biomarkers and pathways for heart failureShaowei Fan, Yuanhui Hu
BMC Medical Genomics|March 4, 2022
Expanding the phenotype associated with SMARCC2 variants: a fetus with tetralogy of FallotHairui Sun, Siyao Zhang, Jingyi Wang, et al.
BMC Medical Genomics|March 5, 2022
A novel bi-alleleic DDX41 mutations in B-cell lymphoblastic leukemia: case reportWoo Yong Shin, Seug Yun Yoon, Rojin Park, et al.
BMC Medical Genomics|March 5, 2022
ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcellAmy Wing-Sze Leung, Henry Chi-Ming Leung, Chak-Lim Wong, et al.
BMC Medical Genomics|March 7, 2022
A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese familyTing Wu, Limei Cui, Yakui Mou, et al.
BMC Medical Genomics|January 21, 2021
High performance logistic regression for privacy-preserving genome analysisMartine De Cock, Rafael Dowsley, Anderson C A Nascimento, et al.
BMC Medical Genomics|January 22, 2021
Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing lossGuangxian Yang, Yi Yin, Zhiping Tan, et al.
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