| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure
|
Grinton, Bronwyn E.
|
|
|
109 |
11 |
p. 2080-2087
|
artikel
|
| 2 |
Bi-allelic CAMSAP1 variants cause a clinically recognizable neuronal migration disorder
|
Khalaf-Nazzal, Reham
|
|
|
109 |
11 |
p. 2068-2079
|
artikel
|
| 3 |
Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery
|
Boycott, Kym M.
|
|
|
109 |
11 |
p. 1947-1959
|
artikel
|
| 4 |
FastRNA: An efficient solution for PCA of single-cell RNA-sequencing data based on a batch-accounting count model
|
Lee, Hanbin
|
|
|
109 |
11 |
p. 1974-1985
|
artikel
|
| 5 |
Liability-scale heritability estimation for biobank studies of low-prevalence disease
|
Ojavee, Sven E.
|
|
|
109 |
11 |
p. 2009-2017
|
artikel
|
| 6 |
MagicalRsq: Machine-learning-based genotype imputation quality calibration
|
Sun, Quan
|
|
|
109 |
11 |
p. 1986-1997
|
artikel
|
| 7 |
Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy
|
Van de Sompele, Stijn
|
|
|
109 |
11 |
p. 2029-2048
|
artikel
|
| 8 |
Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts
|
Mirshahi, Uyenlinh L
|
|
|
109 |
11 |
p. 2018-2028
|
artikel
|
| 9 |
Response to Eura et al.
|
Yu, Jiaxi
|
|
|
109 |
11 |
p. 2090-2091
|
artikel
|
| 10 |
RILPL1-related OPDM is absent in a Japanese cohort
|
Eura, Nobuyuki
|
|
|
109 |
11 |
p. 2088-2089
|
artikel
|
| 11 |
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation
|
Tudini, Emma
|
|
|
109 |
11 |
p. 1960-1973
|
artikel
|
| 12 |
The construction of cross-population polygenic risk scores using transfer learning
|
Zhao, Zhangchen
|
|
|
109 |
11 |
p. 1998-2008
|
artikel
|
| 13 |
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
|
Huang, Yan
|
|
|
109 |
11 |
p. 2092
|
artikel
|
| 14 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
11 |
p. 1945-1946
|
artikel
|
| 15 |
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models
|
Mohajeri, Kiana
|
|
|
109 |
11 |
p. 2049-2067
|
artikel
|
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