Hum. Genet.

ISSN	1432-1203
ISSN-L	0340-6717
IUID	16eb0e08ae104fc891205333a3d9df36
Modified	2020-11-27T13:14:02.543Z
Created	2017-05-09T09:12:25.485Z

Year 2022

PubMed DOI Crossref

Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.

Fallerini C, Picchiotti N, Baldassarri M, ..., Renieri A, Furini S

Hum. Genet. 141 (1) 147-173 [2022-01-00; online 2021-12-10]

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

Year 2021

PubMed DOI Crossref

Correction to: Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance.

Hägg S, Jylhävä J, Wang Y, Czene K, Grassmann F

Hum. Genet. 140 (6) 863 [2021-06-00; online 2021-02-07]

Bioinformatics Support for Computational Resources [Service]

PubMed DOI Crossref

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.

Eisfeldt J, Pettersson M, Petri A, ..., Feuk L, Lindstrand A

Hum. Genet. 140 (5) 775-790 [2021-05-00; online 2020-12-14]

Bioinformatics Support for Computational Resources [Service] NGI Long read [Collaborative] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] NGI Uppsala (Uppsala Genome Center) [Collaborative] National Genomics Infrastructure [Service]

Year 2020

PubMed DOI Crossref

New approaches to the study of immune responses in humans.

Brodin P

Hum. Genet. 139 (6-7) 795-799 [2020-06-00; online 2020-02-10]

Cellular Immunomonitoring [Technology development]

Year 2019

PubMed DOI Crossref

Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus.

Almlöf JC, Nystedt S, Leonard D, ..., Sandling JK, Syvänen AC

Hum. Genet. 138 (2) 141-150 [2019-02-00; online 2019-02-01]

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

Year 2017

PubMed DOI Crossref

Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism.

Bramswig NC, Lüdecke HJ, Pettersson M, ..., Kleefstra T, Wieczorek D

Hum. Genet. 136 (2) 179-192 [2017-02-00; online 2016-11-15]

Bioinformatics Support for Computational Resources [Service] Clinical Genomics Stockholm [Service] NGI Stockholm (Genomics Applications) [Service] NGI Stockholm (Genomics Production) [Service] National Genomics Infrastructure [Service]

Year 2016

PubMed DOI Crossref

The disappearing San of southeastern Africa and their genetic affinities.

Schlebusch CM, Prins F, Lombard M, Jakobsson M, Soodyall H

Hum. Genet. 135 (12) 1365-1373 [2016-12-00; online 2016-09-20]

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

PubMed DOI Crossref

Allele-specific transcription factor binding to common and rare variants associated with disease and gene expression.

Cavalli M, Pan G, Nord H, ..., Lindblad Toh K, Wadelius C

Hum. Genet. 135 (5) 485-497 [2016-05-00; online 2016-03-20]

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

Year 2015

PubMed DOI Crossref

Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family.

Einarsdottir E, Svensson I, Darki F, ..., Kere J, Matsson H

Hum. Genet. 134 (11-12) 1239-1248 [2015-11-00; online 2015-09-25]

NGI Uppsala (Uppsala Genome Center) National Genomics Infrastructure

Year 2013

PubMed DOI Crossref

Genetic determinants of mortality. Can findings from genome-wide association studies explain variation in human mortality?

Ganna A, Rivadeneira F, Hofman A, ..., Ingelsson E, Tiemeier H

Hum. Genet. 132 (5) 553-561 [2013-05-00; online 2013-01-29]

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