Associated Papers
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › a__Freq_TP094
The contribution of rare and common variants in 30 genes to risk nicotine dependence.
Yang J et al.
Molecular Psychiatry, 2015
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
Identification of CHRNA5 rare variants in African-American heavy smokers.
Doyle GA et al.
Psychiatric Genetics, 2014
Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence.
Haller G et al.
Human Molecular Genetics, 2014
Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.
Haller G et al.
Human Molecular Genetics, 2012
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