| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes
|
Lee, Han Kyu
|
|
|
109 |
10 |
p. 1814-1827
|
artikel
|
| 2 |
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
|
Choufani, Sanaa
|
|
|
109 |
10 |
p. 1867-1884
|
artikel
|
| 3 |
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
|
Thomas, Quentin
|
|
|
109 |
10 |
p. 1909-1922
|
artikel
|
| 4 |
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
|
Lu, Shenzhao
|
|
|
109 |
10 |
p. 1932-1943
|
artikel
|
| 5 |
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
|
Ma, Ying
|
|
|
109 |
10 |
p. 1742-1760
|
artikel
|
| 6 |
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
|
Cediel, Maria Lucia
|
|
|
109 |
10 |
p. 1885-1893
|
artikel
|
| 7 |
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
|
Yin, Xianyong
|
|
|
109 |
10 |
p. 1727-1741
|
artikel
|
| 8 |
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design
|
Yang, Yi
|
|
|
109 |
10 |
p. 1761-1776
|
artikel
|
| 9 |
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
|
Iturrate, Asier
|
|
|
109 |
10 |
p. 1828-1849
|
artikel
|
| 10 |
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
|
Aksit, Melis A.
|
|
|
109 |
10 |
p. 1894-1908
|
artikel
|
| 11 |
Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction
|
Li, Shuai
|
|
|
109 |
10 |
p. 1777-1788
|
artikel
|
| 12 |
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
|
Wyrwoll, Margot J.
|
|
|
109 |
10 |
p. 1850-1866
|
artikel
|
| 13 |
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
|
Huang, Yan
|
|
|
109 |
10 |
p. 1923-1931
|
artikel
|
| 14 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
10 |
p. 1725-1726
|
artikel
|
| 15 |
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
|
Tai, Derek J.C.
|
|
|
109 |
10 |
p. 1789-1813
|
artikel
|
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