Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis.
Theuriet J et al.
Brain : a Journal of Neurology, 2024
38696726 (PubMed )
Supplement: awae124_supplementary_data.pdf
Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures.
Turgut GT et al.
Clinical Genetics, 2024
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Pathogenic variants carrier screening in New Brunswick: Acadians reveal high carrier frequency for multiple genetic disorders.
Robichaud PP et al.
Bmc Medical Genomics, 2022
Exploring the biological role of postzygotic and germinal de novo mutations in ASD.
Alonso-Gonzalez A et al.
Scientific Reports, 2021
33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14
Functional annotation of de novo variants from healthy individuals.
Lee J et al.
Genomics & Informatics, 2019
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Winters L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Alamillo CL et al.
Prenatal Diagnosis, 2015
Myasthenic syndrome due to defects in rapsyn: Clinical and molecular findings in 39 patients.
Milone M et al.
Neurology, 2009
Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.
Maselli R et al.
Clinical Genetics, 2007
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