Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Preimplantation genetic testing as a means of preventing hereditary congenital myasthenic syndrome caused by RAPSN.
Zhang Z et al.
Molecular Genetics & Genomic Medicine, 2024
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome.
Liao X et al.
Biomolecules & Biomedicine, 2023
Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis.
Zhou X et al.
Frontiers in Genetics, 2021
A mechanism in agrin signaling revealed by a prevalent Rapsyn mutation in congenital myasthenic syndrome.
Xing G et al.
Elife, 2019
Congenital familial myasthenic syndromes: disease and course in an affected dizygotic twin pair.
Pavone P et al.
Bmj Case Reports, 2013
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M et al.
Neurology, 2009
Congenital myasthenic syndromes and the formation of the neuromuscular junction.
Beeson D et al.
Annals of the New York Academy of Sciences, 2008
Congenital myasthenic syndromes: spotlight on genetic defects of neuromuscular transmission.
Müller JS et al.
Expert Reviews in Molecular Medicine, 2007
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutations.
Cossins J et al.
Brain : a Journal of Neurology, 2006
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