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                             17 results found
no title author magazine year volume issue page(s) type
1 A data model for population descriptors in genomic research Khan, Alyna T.

112 7 p. 1504-1514
article
2 Applying multimodal AI to physiological waveforms improves genetic prediction of cardiovascular traits Zhou, Yuchen

112 7 p. 1562-1579
article
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
article
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
article
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
article
6 CADET: Enhanced transcriptome-wide association analyses in admixed samples using eQTL summary data Head, S. Taylor

112 7 p. 1580-1596
article
7 Complexity within simplicity: Exploring the multifactorial nature of sickle cell disease Starlard-Davenport, Athena

112 7 p. 1499-1503
article
8 Genetic contributions to epigenetic-defined endotypes of allergic phenotypes in children Thompson, Emma E.

112 7 p. 1610-1624
article
9 Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach Rai, Archana

112 7 p. 1664-1680
article
10 Mapping chromatin interactions at melanoma susceptibility loci uncovers distant cis-regulatory gene targets Thakur, Rohit

112 7 p. 1625-1648
article
11 Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples AƱorve-Garibay, Valeria

112 7 p. 1547-1561
article
12 Prioritizing disease-associated missense variants with chemoproteomic-detected amino acids Palafox, Maria F.

112 7 p. 1649-1663
article
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
article
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
article
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
article
16 This month in The Journal Barnes, Alyson B.

112 7 p. 1497-1498
article
17 Toward whole-genome inference of polygenic scores with fast and memory-efficient algorithms Zabad, Shadi

112 7 p. 1528-1546
article
                             17 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands