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                             16 results found
no title author magazine year volume issue page(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
article
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
article
3 Constrained maximum likelihood-based Mendelian randomization robust to both correlated and uncorrelated pleiotropic effects Xue, Haoran

108 7 p. 1251-1269
article
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
article
5 Exome variant discrepancies due to reference-genome differences Li, He

108 7 p. 1239-1250
article
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
article
7 Genetic effects on liver chromatin accessibility identify disease regulatory variants Currin, Kevin W.

108 7 p. 1169-1189
article
8 Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology Alipanahi, Babak

108 7 p. 1217-1230
article
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
article
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
article
11 Mutations in TP73 cause impaired mucociliary clearance and lissencephaly Wallmeier, Julia

108 7 p. 1318-1329
article
12 Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals Kosmicki, Jack A.

108 7 p. 1350-1355
article
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
article
14 Shifting landscapes of human MTHFR missense-variant effects Weile, Jochen

108 7 p. 1283-1300
article
15 Summix: A method for detecting and adjusting for population structure in genetic summary data Arriaga-MacKenzie, Ian S.

108 7 p. 1270-1282
article
16 This month in The Journal Ratzel, Sarah

108 7 p. 1167-1168
article
                             16 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands