Associated Papers
Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants.
Jiali C et al.
Frontiers in Genetics, 2024
Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.
Grange LJ et al.
Nature Communications, 2022
36333305 (PubMed )
Supplement: 41467_2022_34349_MOESM6_ESM.xlsx › Supplementary_Data_3
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
Zidoune H et al.
Frontiers in Genetics, 2022
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome.
Dawson PA et al.
Molecular Genetics and Metabolism Reports, 2020
Novel rare frameshift variation in aggressive periodontitis: Exomic and familial-screening analysis.
Taiete T et al.
Journal of Periodontology, 2020
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