Associated Papers
Defective IFT57 underlies a novel cause of Bardet-Biedl syndrome.
Nitoiu A et al.
Human Molecular Genetics, 2025
40273360 (PubMed )
Supplement: supplementary_data_april7_ddaf058.docx
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Bertoli-Avella AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33875846 (PubMed )
Supplement: 41436_2021_1159_MOESM2_ESM.xlsx › Homozygous_variants
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2021
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