Associated Papers
A Comprehensive Machine Learning Framework for the Exact Prediction of the Age of Onset in Familial and Sporadic Alzheimer's Disease.
Vélez JI et al.
Diagnostics (basel, Switzerland), 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_5
APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.
Vélez JI et al.
Molecular Psychiatry, 2016
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A0AD-01A.domain
A DFNA5 mutation identified in Japanese families with autosomal dominant hereditary hearing loss.
Nishio A et al.
Annals of Human Genetics, 2014
Genetic mapping and exome sequencing identify 2 mutations associated with stroke protection in pediatric patients with sickle cell anemia.
Flanagan JM et al.
Blood, 2013
Evidence for a founder mutation causing DFNA5 hearing loss in East Asians.
Park HJ et al.
Journal of Human Genetics, 2010
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