Associated Papers
Novel SCYL2 Mutations and Arthrogryposis Multiplex Congenita 4: Case Report and Review of the Literature.
Zamel K et al.
International Journal of Molecular Sciences, 2025
SCYL2-related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita-4 and beyond?
Malbos M et al.
Clinical Genetics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Seidahmed MZ et al.
Human Genetics, 2020
AllelePred: A Simple Allele Frequencies Ensemble Predictor for Different Single Nucleotide Variants.
Sobahy TM et al.
Ieee/acm Transactions on Computational Biology and Bioinformatics, 0
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