| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Automated AI labeling of optic nerve head enables insights into cross-ancestry glaucoma risk and genetic discovery in >280,000 images from UKB and CLSA
|
Han, Xikun
|
|
|
108 |
7 |
p. 1204-1216
|
artikel
|
| 2 |
Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation
|
Polla, Daniel L.
|
|
|
108 |
7 |
p. 1342-1349
|
artikel
|
| 3 |
Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects
|
Xue, Haoran
|
|
|
108 |
7 |
p. 1251-1269
|
artikel
|
| 4 |
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy
|
Usmani, Muhammad A.
|
|
|
108 |
7 |
p. 1330-1341
|
artikel
|
| 5 |
Exome variant discrepancies due to reference-genome differences
|
Li, He
|
|
|
108 |
7 |
p. 1239-1250
|
artikel
|
| 6 |
Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element
|
Baxter, Joseph S.
|
|
|
108 |
7 |
p. 1190-1203
|
artikel
|
| 7 |
Genetic effects on liver chromatin accessibility identify disease regulatory variants
|
Currin, Kevin W.
|
|
|
108 |
7 |
p. 1169-1189
|
artikel
|
| 8 |
Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology
|
Alipanahi, Babak
|
|
|
108 |
7 |
p. 1217-1230
|
artikel
|
| 9 |
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
|
Wong, Hui Hui
|
|
|
108 |
7 |
p. 1301-1317
|
artikel
|
| 10 |
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
|
Wong, Hui Hui
|
|
|
108 |
7 |
p. 1356
|
artikel
|
| 11 |
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
|
Wallmeier, Julia
|
|
|
108 |
7 |
p. 1318-1329
|
artikel
|
| 12 |
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
|
Kosmicki, Jack A.
|
|
|
108 |
7 |
p. 1350-1355
|
artikel
|
| 13 |
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care
|
Dimmock, David
|
|
|
108 |
7 |
p. 1231-1238
|
artikel
|
| 14 |
Shifting landscapes of human MTHFR missense-variant effects
|
Weile, Jochen
|
|
|
108 |
7 |
p. 1283-1300
|
artikel
|
| 15 |
Summix: A method for detecting and adjusting for population structure in genetic summary data
|
Arriaga-MacKenzie, Ian S.
|
|
|
108 |
7 |
p. 1270-1282
|
artikel
|
| 16 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
7 |
p. 1167-1168
|
artikel
|
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