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J. Hum. Genet.
JSON
ISSN
1435-232X
ISSN-L
1434-5161
IUID
6527818a7c8f425bae1e233ffb87a531
Modified
2020-11-27T13:14:02.698Z
Created
2017-05-09T09:12:03.533Z
Year 2021
PubMed
DOI
Crossref
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A
, Pettersson M, Chitayat D, ...,
Lindstrand A
,
Grigelioniene G
J. Hum. Genet.
66
(10) 995-1008 [2021-10-00; online 2021-04-20]
Bioinformatics Support for Computational Resources [Service]
Clinical Genomics Stockholm [Service]
NGI Stockholm (Genomics Applications)
NGI Stockholm (Genomics Production)
National Genomics Infrastructure
PubMed
DOI
Crossref
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease.
Crawford AA, Bankier S, Altmaier E, ..., Walker BR, CORtisol NETwork (CORNET) consortium
J. Hum. Genet.
66
(6) 625-636 [2021-06-00; online 2021-01-20]
NGI Uppsala (SNP&SEQ Technology Platform) [Service]
National Genomics Infrastructure [Service]
Year 2015
PubMed
DOI
Crossref
Polymorphisms in DCDC2 and S100B associate with developmental dyslexia.
Matsson H, Huss M, Persson H, ..., Peyrard-Janvid M, Kere J
J. Hum. Genet.
60
(7) 399-401 [2015-07-00; online 2015-04-17]
Mutation Analysis Facility (MAF)
NGI Stockholm (Genomics Applications)
NGI Stockholm (Genomics Production)
National Genomics Infrastructure
Year 2010
PubMed
DOI
Crossref
Linkage to 20p13 including the ANGPT4 gene in families with mixed Alzheimer's disease and vascular dementia.
Sillén A, Brohede J, Lilius L, ..., Winblad B, Graff C
J. Hum. Genet.
55
(10) 649-655 [2010-10-00; online 2010-07-03]
Mutation Analysis Facility (MAF)
SciLifeLab Data Centre
Publications
9.5.0