| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A catalog of GWAS fine-mapping efforts in autoimmune disease
|
Caliskan, Minal
|
|
|
108 |
4 |
p. 549-563
|
artikel
|
| 2 |
A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome
|
White, Susan M.
|
|
|
108 |
4 |
p. 749-756
|
artikel
|
| 3 |
A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank
|
Dutta, Diptavo
|
|
|
108 |
4 |
p. 669-681
|
artikel
|
| 4 |
Association of structural variation with cardiometabolic traits in Finns
|
Chen, Lei
|
|
|
108 |
4 |
p. 583-596
|
artikel
|
| 5 |
A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits
|
Cai, Mingxuan
|
|
|
108 |
4 |
p. 632-655
|
artikel
|
| 6 |
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
|
Belyeu, Jonathan R.
|
|
|
108 |
4 |
p. 597-607
|
artikel
|
| 7 |
Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry
|
Graff, Mariaelisa
|
|
|
108 |
4 |
p. 564-582
|
artikel
|
| 8 |
Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia
|
Bao, Xiuqin
|
|
|
108 |
4 |
p. 709-721
|
artikel
|
| 9 |
Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease
|
Vergnano, Marta
|
|
|
108 |
4 |
p. 757
|
artikel
|
| 10 |
Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations
|
Martin, Alicia R.
|
|
|
108 |
4 |
p. 656-668
|
artikel
|
| 11 |
Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm
|
Favalli, Valentina
|
|
|
108 |
4 |
p. 682-695
|
artikel
|
| 12 |
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
|
Fatima, Ambrin
|
|
|
108 |
4 |
p. 739-748
|
artikel
|
| 13 |
Negative selection on complex traits limits phenotype prediction accuracy between populations
|
Durvasula, Arun
|
|
|
108 |
4 |
p. 620-631
|
artikel
|
| 14 |
Opportunities and challenges for the computational interpretation of rare variation in clinically important genes
|
McInnes, Gregory
|
|
|
108 |
4 |
p. 535-548
|
artikel
|
| 15 |
Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes
|
Courage, Carolina
|
|
|
108 |
4 |
p. 722-738
|
artikel
|
| 16 |
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation
|
Truty, Rebecca
|
|
|
108 |
4 |
p. 696-708
|
artikel
|
| 17 |
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects
|
Fridman, Hila
|
|
|
108 |
4 |
p. 608-619
|
artikel
|
| 18 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
4 |
p. 533-534
|
artikel
|
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