Associated Papers
The curious case of a heterozygous loss-of-function PSEN1 variant associated with early-onset Alzheimer's disease.
Sanjuan-Ruiz I et al.
Molecular Neurodegeneration Advances, 2025
41127441 (PubMed )
Supplement: 44477_2025_4_MOESM2_ESM.xlsx › Sheet1
Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP et al.
Human Genomics, 2018
29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family12_SNPs
ADAMTSL4 assessment in ectopia lentis reveals a recurrent founder mutation in Polynesians.
van Bysterveldt KA et al.
Ophthalmic Genetics, 2017
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
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