| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus
|
Wang, Fan
|
|
|
109 |
2 |
p. 253-269
|
artikel
|
| 2 |
A transchromosomic rat model with human chromosome 21 shows robust Down syndrome features
|
Kazuki, Yasuhiro
|
|
|
109 |
2 |
p. 328-344
|
artikel
|
| 3 |
Harnessing tissue-specific genetic variation to dissect putative causal pathways between body mass index and cardiometabolic phenotypes
|
Leyden, Genevieve M.
|
|
|
109 |
2 |
p. 240-252
|
artikel
|
| 4 |
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
|
Maia, Nuno
|
|
|
109 |
2 |
p. 345-360
|
artikel
|
| 5 |
Midbrain organoids mimic early embryonic neurodevelopment and recapitulate LRRK2-p.Gly2019Ser-associated gene expression
|
Zagare, Alise
|
|
|
109 |
2 |
p. 311-327
|
artikel
|
| 6 |
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
|
Rowlands, Charlie F.
|
|
|
109 |
2 |
p. 210-222
|
artikel
|
| 7 |
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning
|
Chen, Zefu
|
|
|
109 |
2 |
p. 270-281
|
artikel
|
| 8 |
Portability of 245 polygenic scores when derived from the UK Biobank and applied to 9 ancestry groups from the same cohort
|
Privé, Florian
|
|
|
109 |
2 |
p. 373
|
artikel
|
| 9 |
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
|
Küry, Sébastien
|
|
|
109 |
2 |
p. 361-372
|
artikel
|
| 10 |
Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity
|
Arvanitis, Marios
|
|
|
109 |
2 |
p. 223-239
|
artikel
|
| 11 |
StrVCTVRE: A supervised learning method to predict the pathogenicity of human genome structural variants
|
Sharo, Andrew G.
|
|
|
109 |
2 |
p. 195-209
|
artikel
|
| 12 |
The genetic architecture of pediatric cardiomyopathy
|
Ware, Stephanie M.
|
|
|
109 |
2 |
p. 282-298
|
artikel
|
| 13 |
This month in The Journal
|
Cullinan, Sara B.
|
|
|
109 |
2 |
p. 193-194
|
artikel
|
| 14 |
Trans-ancestral fine-mapping of MHC reveals key amino acids associated with spontaneous clearance of hepatitis C in HLA-DQβ1
|
Valencia, Ana
|
|
|
109 |
2 |
p. 299-310
|
artikel
|
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