Associated Papers
A de novo Mutation (p.Gln277X) of Cyclin D2 is Responsible for a Child with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome.
Zhao MF et al.
Dna and Cell Biology, 2024
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.
Clark LN et al.
Ebiomedicine, 2022
36183486 (PubMed )
Supplement: mmc1.xlsx › RV_NPL_per_family
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S12
CNV analysis and mutation screening indicate an important role for the NPY4R gene in human obesity.
Aerts E et al.
Obesity (silver Spring, Md.), 2016
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