| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A data model for population descriptors in genomic research
|
Khan, Alyna T.
|
|
|
112 |
7 |
p. 1504-1514
|
artikel
|
| 2 |
Applying multimodal AI to physiological waveforms improves genetic prediction of cardiovascular traits
|
Zhou, Yuchen
|
|
|
112 |
7 |
p. 1562-1579
|
artikel
|
| 3 |
Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome
|
Antonicka, Hana
|
|
|
112 |
7 |
p. 1699-1710
|
artikel
|
| 4 |
Bi-allelic variants in POPDC2 cause an autosomal recessive syndrome presenting with cardiac conduction defects and hypertrophic cardiomyopathy
|
Nicastro, Michele
|
|
|
112 |
7 |
p. 1681-1698
|
artikel
|
| 5 |
Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities
|
Gabillard-Lefort, Claudie
|
|
|
112 |
7 |
p. 1711-1721
|
artikel
|
| 6 |
CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data
|
Head, S. Taylor
|
|
|
112 |
7 |
p. 1580-1596
|
artikel
|
| 7 |
Complexity within simplicity: Exploring the multifactorial nature of sickle cell disease
|
Starlard-Davenport, Athena
|
|
|
112 |
7 |
p. 1499-1503
|
artikel
|
| 8 |
Genetic contributions to epigenetic-defined endotypes of allergic phenotypes in children
|
Thompson, Emma E.
|
|
|
112 |
7 |
p. 1610-1624
|
artikel
|
| 9 |
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
|
Rai, Archana
|
|
|
112 |
7 |
p. 1664-1680
|
artikel
|
| 10 |
Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets
|
Thakur, Rohit
|
|
|
112 |
7 |
p. 1625-1648
|
artikel
|
| 11 |
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples
|
Añorve-Garibay, Valeria
|
|
|
112 |
7 |
p. 1547-1561
|
artikel
|
| 12 |
Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids
|
Palafox, Maria F.
|
|
|
112 |
7 |
p. 1649-1663
|
artikel
|
| 13 |
Public preferences for the value and implementation of genomic newborn screening: Insights from two discrete choice experiments in Australia
|
Peters, Riccarda
|
|
|
112 |
7 |
p. 1515-1527
|
artikel
|
| 14 |
Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures
|
Ray Das, Sankalita
|
|
|
112 |
7 |
p. 1722-1732
|
artikel
|
| 15 |
Single-cell transcriptome-wide Mendelian randomization and colocalization analyses uncover cell-specific mechanisms in atherosclerotic cardiovascular disease
|
Ray, Anushree
|
|
|
112 |
7 |
p. 1597-1609
|
artikel
|
| 16 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
7 |
p. 1497-1498
|
artikel
|
| 17 |
Toward whole-genome inference of polygenic scores with fast and memory-efficient algorithms
|
Zabad, Shadi
|
|
|
112 |
7 |
p. 1528-1546
|
artikel
|
Tijdschrift beschrijving