Associated Papers
Exome Sequencing Uncovers Genetic Drivers of Multiple Sclerosis in a Multiplex Family.
Lintas C et al.
Genes, 2025
41300763 (PubMed )
Supplement: genes-16-01311-s001.zip › genes-3943432-supplementary.xlsx › Foglio1
Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024
39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1464.524
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