Associated Papers
Comprehensive genetic analysis of facioscapulohumeral muscular dystrophy by Nanopore long-read whole-genome sequencing.
Huang M et al.
Journal of Translational Medicine, 2024
38741136 (PubMed )
Supplement: 12967_2024_5259_MOESM2_ESM.xlsx › Supplemental_Table_5
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 2021
33417716 (PubMed )
Supplement: deaa347_supplementary_data.zip › Suppl_Table_SV_Neand_Shared_Extinct_Revised.pdf
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
34539727 (PubMed )
Supplement: Table_2.XLSX › Feuil1
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Shaw ND et al.
Nature Genetics, 2017
Genetic and epigenetic profiling of CLL disease progression reveals limited somatic evolution and suggests a relationship to memory-cell development.
Smith EN et al.
Blood Cancer Journal, 2015
25860294 (PubMed )
Supplement: bcj201514x3.xlsx › Table_S2
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