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Molecular Genetics & Genomic Medicine|December 19, 2019
Gene-by-gene interactions associated with the risk of conotruncal heart defectsChen Lyu, Daniel M Webber, Stewart L MacLeod, et al.
Molecular Genetics & Genomic Medicine|May 27, 2022
Hereditary hemorrhagic telangiectasia: First demonstration of a founder effect in Italy; the ACVRL1 c.289_294del variant originated in the country of Bergamo 200 years agoAnna Sbalchiero, Yasmin Abu Hweij, Tommaso Mazza, et al.
Molecular Genetics & Genomic Medicine|May 13, 2022
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactylyYusi Wang, Xuguang Hao, Xueyuan Jia, et al.
Molecular Genetics & Genomic Medicine|May 16, 2022
Functional validation of a novel AAAS variant in an atypical presentation of Allgrove syndromeErica L Macke, Joel A Morales-Rosado, Sarah K Macklin-Mantia, et al.
Molecular Genetics & Genomic Medicine|May 31, 2022
ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment explorationHaiyan Yang, Hongmei Liao, Siyi Gan, et al.
Molecular Genetics & Genomic Medicine|June 1, 2022
Noninvasive prenatal prediction of fetal haplotype with Spearman rank correlation analysis modelDu Hanxiao, Sun Luming, Chen Songchang, et al.
Molecular Genetics & Genomic Medicine|May 10, 2022
Systematic analysis of the causes of NIPS sex chromosome aneuploidy false-positive resultsZhaoru Lyu, Chunhong Huang
Molecular Genetics & Genomic Medicine|January 21, 2018
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patientsSoraia Poloni, Fernanda Sperb-Ludwig, Taciane Borsatto, et al.
Molecular Genetics & Genomic Medicine|February 1, 2018
In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombastheniaXavier Pillois, Pierre Peters, Karin Segers, et al.
Molecular Genetics & Genomic Medicine|February 5, 2018
Mutations in the PH Domain of DNM1 are associated with a nonepileptic phenotype characterized by developmental delay and neurobehavioral abnormalitiesEmily Brereton, Emily Fassi, Gabriel C Araujo, et al.
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