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Molecular Genetics & Genomic Medicine|July 29, 2016
Pitfalls in genetic testing: the story of missed SCN1A mutationsTania Djémié, Sarah Weckhuysen, Sarah von Spiczak, et al.
Molecular Genetics & Genomic Medicine|July 29, 2016
The limitations of qPCR telomere length measurement in diagnosing dyskeratosis congenitaShahinaz M Gadalla, Payal P Khincha, Hormuzd A Katki, et al.
Molecular Genetics & Genomic Medicine|April 14, 2020
FF-QuantSC: accurate quantification of fetal fraction by a neural network modelYuying Yuan, Xianghua Chai, Na Liu, et al.
Molecular Genetics & Genomic Medicine|April 23, 2020
Genetic polymorphisms of IL1RN were associated with lumbar disk herniation risk in a Chinese Han populationAriga Tai, Ming Zhu, Han Qilimuge, et al.
Molecular Genetics & Genomic Medicine|June 20, 2020
Genetic variability of human angiotensin-converting enzyme 2 (hACE2) among various ethnic populationsQuan Li, Zanxia Cao, Proton Rahman
Molecular Genetics & Genomic Medicine|June 17, 2020
Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assayTomoko Horinouchi, Tomohiko Yamamura, Shogo Minamikawa, et al.
Molecular Genetics & Genomic Medicine|April 29, 2020
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicineXiao Neng, Mao Xiao, Chen Yuanlu, et al.
Molecular Genetics & Genomic Medicine|April 29, 2020
Candidate gene associations reveal sex-specific Graves' disease risk alleles among Chinese Han populationsChen-Yan Yan, Yu-Ru Ma, Feng Sun, et al.
Molecular Genetics & Genomic Medicine|May 1, 2020
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypesKit San Yeung, Florrie N Y Yu, Cheuk Wing Fung, et al.
Molecular Genetics & Genomic Medicine|April 19, 2020
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disordersPernille A Gregersen, Victoria McKay, Maie Walsh, et al.
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