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Hum. Genet.
JSON
ISSN
1432-1203
ISSN-L
0340-6717
IUID
a11ac9c7b7d64ad2a9fbce2a647e2b95
Modified
2020-11-27T13:12:53.685Z
Created
2018-12-05T11:15:25.880Z
Year 2021
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]
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]
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]
Year 2017
PubMed
DOI
Crossref
Loss of chromosome Y (LOY) in blood cells is associated with increased risk for disease and mortality in aging men.
Forsberg LA
Hum. Genet.
136
(5) 657-663 [2017-05-00; online 2017-04-19]
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]
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]
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 2016-03-18]
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 2015-09-23]
Year 2012
PubMed
DOI
Crossref
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.
Hu M, Ayub Q, Guerra-Assunção JA, ..., Tyler-Smith C, Xue Y
Hum. Genet.
131
(5) 665-674 [2012-05-00; online 2011-11-05]
SciLifeLab Data Centre
Publications
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