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Molecular Genetics & Genomic Medicine|December 13, 2023
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleepLaura Licchetta, Lucia Di Giorgi, Margherita Santucci, et al.Molecular Genetics & Genomic Medicine|December 11, 2023
Exome sequencing-aided precise diagnosis of four families with type I Stickler syndromeRunyi Tian, Ping Tong, Yuhong He, et al.Molecular Genetics & Genomic Medicine|November 27, 2023
Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese familyXinyuan Tian, Xiaoni Zhang, Qinghua Zhang, et al.Molecular Genetics & Genomic Medicine|March 11, 2024
Retinoblastoma and polydactyly in a child with 46, XY, 15pstk+ karyotype-A case report and literature reviewXiaohuan Pi, Qiming Zhang, Xinghua Wang, et al.Molecular Genetics & Genomic Medicine|March 6, 2024
Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B)Qing-Bing He, Cai-Hong Wu, Dong-Lan Sun, et al.Molecular Genetics & Genomic Medicine|March 5, 2024
Major depressive disorder and the risk of irritable bowel syndrome: A Mendelian randomization studyRuiming Zhu, Nan Zhang, He Zhu, et al.Molecular Genetics & Genomic Medicine|February 14, 2024
Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variantsEriko Nishi, Kumiko Yanagi, Tadashi Kaname, et al.Molecular Genetics & Genomic Medicine|February 14, 2024
Antenatal description of large 4q13.2q21.23 deletion and outcomesAnna-Gaëlle Giguet-Valard, Christelle Thevenin, Sophie Dreux, et al.Molecular Genetics & Genomic Medicine|February 12, 2024
Retraction: Genetic polymorphism and phylogenetic analyses of 21 non-CODIS STR loci in a Chinese Han population from ShanghaiMolecular Genetics & Genomic Medicine|February 12, 2024
Retraction: Population genetics of 24 Y-STR loci in Chinese Han population from Jilin Province, Northeast ChinaPageof 252