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
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
32552793 (PubMed )
Supplement: 13059_2020_2053_MOESM3_ESM.xlsx › Table_S2
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE et al.
Genome Biology, 2015
26036949 (PubMed )
Supplement: 13059_2015_681_MOESM2_ESM.xlsx › Sheet1
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