| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus
|
Colli, Leandro M.
|
|
|
108 |
9 |
p. 1590-1610
|
artikel
|
| 2 |
A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk
|
Marderstein, Andrew R.
|
|
|
108 |
9 |
p. 1752-1764
|
artikel
|
| 3 |
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR
|
Xu, Mai
|
|
|
108 |
9 |
p. 1611-1630
|
artikel
|
| 4 |
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis
|
Aygün, Nil
|
|
|
108 |
9 |
p. 1647-1668
|
artikel
|
| 5 |
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms
|
Zhang, Tongwu
|
|
|
108 |
9 |
p. 1631-1646
|
artikel
|
| 6 |
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
|
Stolz, Jacob R.
|
|
|
108 |
9 |
p. 1692-1709
|
artikel
|
| 7 |
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
|
Marom, Ronit
|
|
|
108 |
9 |
p. 1710-1724
|
artikel
|
| 8 |
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
|
Danis, Daniel
|
|
|
108 |
9 |
p. 1564-1577
|
artikel
|
| 9 |
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance
|
Amorosi, Clara J.
|
|
|
108 |
9 |
p. 1735-1751
|
artikel
|
| 10 |
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population
|
Kivisild, Toomas
|
|
|
108 |
9 |
p. 1792-1806
|
artikel
|
| 11 |
Position effects at the FGF8 locus are associated with femoral hypoplasia
|
Socha, Magdalena
|
|
|
108 |
9 |
p. 1725-1734
|
artikel
|
| 12 |
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm
|
Roychowdhury, Tanmoy
|
|
|
108 |
9 |
p. 1578-1589
|
artikel
|
| 13 |
Response to Biesecker et al.
|
Hamosh, Ada
|
|
|
108 |
9 |
p. 1807-1808
|
artikel
|
| 14 |
Response to Hamosh et al.
|
Biesecker, Leslie G.
|
|
|
108 |
9 |
p. 1809-1810
|
artikel
|
| 15 |
Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts
|
Wang, Biyao
|
|
|
108 |
9 |
p. 1780-1791
|
artikel
|
| 16 |
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
|
Stark, Zornitza
|
|
|
108 |
9 |
p. 1551-1557
|
artikel
|
| 17 |
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression
|
Mo, Angela
|
|
|
108 |
9 |
p. 1765-1779
|
artikel
|
| 18 |
The omnigenic model and polygenic prediction of complex traits
|
Mathieson, Iain
|
|
|
108 |
9 |
p. 1558-1563
|
artikel
|
| 19 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
9 |
p. 1549-1550
|
artikel
|
| 20 |
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
|
Goodman, Lindsey D.
|
|
|
108 |
9 |
p. 1669-1691
|
artikel
|
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