Associated Papers
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
Genetic associations with age at dementia onset in the PSEN1 E280A Colombian kindred.
Cochran JN et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2023
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_MOESM2_ESM.xlsx › together
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Feliubadaló L et al.
Scientific Reports, 2017
28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
Baschal EE et al.
G3 (bethesda, Md.), 2014
High-resolution mutational profiling suggests the genetic validity of glioblastoma patient-derived pre-clinical models.
Yost SE et al.
Plos One, 2013
23441165 (PubMed )
Supplement: pone.0056185.s012.xlsx › Sheet1
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