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Journal of Medical Genetics|May 8, 2020
15q11.2 deletion is enriched in patients with total anomalous pulmonary venous connectionXiaoliang Li, Guocheng Shi, Yang Li, et al.Journal of Medical Genetics|May 9, 2020
Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosisHeng Jiang, Shulun Liang, Kai He, et al.Journal of Medical Genetics|May 12, 2020
Prevalence and associated phenotypes of DUSP6, IL17RD and SPRY4 variants in a large Chinese cohort with isolated hypogonadotropic hypogonadismMeichao Men, Xinying Wang, Jiayu Wu, et al.Journal of Medical Genetics|June 24, 2020
Haploinsufficiency of the NF1 gene is associated with protection against diabetesRoope A Kallionpää, Sirkku Peltonen, Jussi Leppävirta, et al.Journal of Medical Genetics|June 24, 2020
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patientsYanbin Fan, Dandan Tan, Danyu Song, et al.Journal of Medical Genetics|July 18, 2015
Haplotype-based approach to known MS-associated regions increases the amount of explained riskPouya Khankhanian, Pierre-Antoine Gourraud, Antoine Lizee, et al.Journal of Medical Genetics|June 5, 2015
The BRCA2 polymorphic stop codon: stuff or nonsense?J E Higgs, E F Harkness, N L Bowers, et al.Journal of Medical Genetics|June 5, 2015
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelinationNadirah Damseh, Alexandre Simonin, Chaim Jalas, et al.Journal of Medical Genetics|May 22, 2015
Potential research participants support the return of raw sequence dataAnna Middleton, Caroline F Wright, Katherine I Morley, et al.Journal of Medical Genetics|May 6, 2015
A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing lossGhulam Mujtaba, Julie M Schultz, Ayesha Imtiaz, et al.Pageof 649