The American Journal of Human Genetics

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

Wallenius J, Kafantari E, Jhaveri E, ..., Ehrencrona H, Puschmann A

The American Journal of Human Genetics - (-) - [2023-11-00; online 2023-11-00]

NGI Long read [Collaborative] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Collaborative]

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

Ramdas S, Judd J, Graham SE, ..., Zhu X, Brown CD

The American Journal of Human Genetics 109 (8) 1366-1387 [2022-08-00; online 2022-08-00]

NGI SNP genotyping [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Ligthart S, Vaez A, Võsa U, ..., Frayling TM, Slagboom EP

The American Journal of Human Genetics 103 (5) 691-706 [2018-11-00; online 2018-11-00]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis

Manousaki D, Dudding T, Haworth S, ..., Timpson NJ, Richards JB

The American Journal of Human Genetics 101 (2) 227-238 [2017-08-00; online 2017-08-00]

NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]

Mosaic Loss of Chromosome Y in Blood Is Associated with Alzheimer Disease

Dumanski JP, Lambert JC, Rasi C, ..., Lind L, Forsberg LA

The American Journal of Human Genetics 98 (6) 1208-1219 [2016-06-00; online 2016-06-00]

Bioinformatics Support for Computational Resources [Service] NGI Uppsala (SNP&SEQ Technology Platform) [Service] National Genomics Infrastructure [Service]