Associated Papers
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Nature Communications, 2025
40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_8
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
Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.
Pedicone C et al.
Molecular Neurodegeneration, 2024
MAPT Locus in Parkinson's Disease Patients of Ashkenazi Origin: A Stratified Analysis.
Shani S et al.
Genes, 2023
38254936 (PubMed )
Supplement: genes-15-00046-s001.zip › Shani_et_al_Supplement_Table_S2_Nov_13_2023.xlsx › Supplement_Table_S2
GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.
Dand N et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_7
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
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K et al.
Autophagy, 2022
Clinical Genetics Can Solve the Pitfalls of Genome-Wide Investigations: Lesson from Mismapping a Loss-of-Function Variant in KANSL1.
Bigoni S et al.
Genes, 2020
Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.
Soto-Beasley AI et al.
Parkinsonism & Related Disorders, 2020
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
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
Myers KA et al.
Plos One, 2018
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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