Associated Papers
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S et al.
Nature Communications, 2024
38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3
Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci.
Soutar MPM et al.
Brain : a Journal of Neurology, 2022
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Soto-Beasley AI et al.
Parkinsonism & Related Disorders, 2020
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
Widespread RNA editing dysregulation in brains from autistic individuals.
Tran SS et al.
Nature Neuroscience, 2019
30559470 (PubMed )
Supplement: NIHMS1512053-supplement-Sup_Table_7.xlsx › 7b
A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia.
Guo BB et al.
Leukemia & Lymphoma, 2018
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Myers KA et al.
Plos One, 2018
Megakaryocytes in Myeloproliferative Neoplasms Have Unique Somatic Mutations.
Guo BB et al.
The American Journal of Pathology, 2017
Detection and interpretation of shared genetic influences on 42 human traits.
Pickrell JK et al.
Nature Genetics, 2016
27182965 (PubMed )
Supplement: NIHMS780506-supplement-11.pdf
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