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_MOESM23_ESM.xlsx › Sheet1
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Genetic tests aid in counseling of fetuses with cerebellar vermis defects.
Li L et al.
Prenatal Diagnosis, 2020
The morbid genome of ciliopathies: an update.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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