| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
|
Negi, Shloka
|
|
|
112 |
2 |
p. 428-449
|
artikel
|
| 2 |
A unified framework for cell-type-specific eQTL prioritization by integrating bulk and scRNA-seq data
|
Yu, Xinyi
|
|
|
112 |
2 |
p. 332-352
|
artikel
|
| 3 |
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy
|
Buchert, Rebecca
|
|
|
112 |
2 |
p. 374-393
|
artikel
|
| 4 |
Characterizing features affecting local ancestry inference performance in admixed populations
|
Honorato-Mauer, Jessica
|
|
|
112 |
2 |
p. 224-234
|
artikel
|
| 5 |
Characterizing substructure via mixture modeling in large-scale genetic summary statistics
|
Stoneman, Hayley R.
|
|
|
112 |
2 |
p. 235-253
|
artikel
|
| 6 |
CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans
|
Szenker-Ravi, Emmanuelle
|
|
|
112 |
2 |
p. 353-373
|
artikel
|
| 7 |
Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource
|
Popejoy, Alice B.
|
|
|
112 |
2 |
p. 215-223
|
artikel
|
| 8 |
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome
|
Karimi, Karim
|
|
|
112 |
2 |
p. 414-427
|
artikel
|
| 9 |
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders
|
Lessel, Ivana
|
|
|
112 |
2 |
p. 394-413
|
artikel
|
| 10 |
Functional characterization of eQTLs and asthma risk loci with scATAC-seq across immune cell types and contexts
|
Wei, Julong
|
|
|
112 |
2 |
p. 301-317
|
artikel
|
| 11 |
Gene and phenome-based analysis of the shared genetic architecture of eye diseases
|
Scalici, Alexandra
|
|
|
112 |
2 |
p. 318-331
|
artikel
|
| 12 |
Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood
|
Jakubek, Yasminka A.
|
|
|
112 |
2 |
p. 276-290
|
artikel
|
| 13 |
HiFi long-read genomes for difficult-to-detect, clinically relevant variants
|
Höps, Wolfram
|
|
|
112 |
2 |
p. 450-456
|
artikel
|
| 14 |
Multivariate proteome-wide association study to identify causal proteins for Alzheimer disease
|
Fang, Lei
|
|
|
112 |
2 |
p. 291-300
|
artikel
|
| 15 |
No evidence for sex-differential transcriptomes driving genome-wide sex-differential natural selection
|
Ming, Matthew J.
|
|
|
112 |
2 |
p. 254-260
|
artikel
|
| 16 |
Population history and admixture of the Fulani people from the Sahel
|
Fortes-Lima, Cesar A.
|
|
|
112 |
2 |
p. 261-275
|
artikel
|
| 17 |
Prenatal gene editing for neurodevelopmental diseases: Ethical considerations
|
Major, Rami M.
|
|
|
112 |
2 |
p. 201-214
|
artikel
|
| 18 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
2 |
p. 199-200
|
artikel
|
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