Associated Papers
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
Yang Q et al.
Bmc Medical Genomics, 2022
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Further delineation of SMG9-related heart and brain malformation syndrome.
Altuwaijri N et al.
American Journal of Medical Genetics. Part A, 2021
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder.
Lecoquierre F et al.
American Journal of Medical Genetics. Part A, 2019
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Shaheen R et al.
American Journal of Human Genetics, 2016
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