Associated Papers
Cryo-EM structure of the AAA+ SPATA5 complex and its role in human cytoplasmic pre-60S maturation.
Dai Y et al.
Nature Communications, 2025
40268917 (PubMed )
Supplement: 41467_2025_58894_MOESM3_ESM.xlsx › 2._SPATA5L1
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.
Rodriguez-Valero M et al.
Laryngoscope Investigative Otolaryngology, 2024
38855775 (PubMed )
Supplement: LIO2-9-e1291-s001.xlsx › Supp_Table_2
A further case of AFG2B-related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro).
Grosch S et al.
Molecular Genetics & Genomic Medicine, 2024
Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.
Aguiar T et al.
Frontiers in Genetics, 2022
35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.
Forstner AJ et al.
Translational Psychiatry, 2020
32066727 (PubMed )
Supplement: 41398_2020_732_MOESM5_ESM.xlsx › Supplementary_Table_1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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