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18 results found

no	title	author	magazine	year	volume	issue	page(s)	type
1	A catalog of GWAS fine-mapping efforts in autoimmune disease	Caliskan, Minal			108	4	p. 549-563	article
2	A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome	White, Susan M.			108	4	p. 749-756	article
3	A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank	Dutta, Diptavo			108	4	p. 669-681	article
4	Association of structural variation with cardiometabolic traits in Finns	Chen, Lei			108	4	p. 583-596	article
5	A unified framework for cross-population trait prediction by leveraging the genetic correlation of polygenic traits	Cai, Mingxuan			108	4	p. 632-655	article
6	De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families	Belyeu, Jonathan R.			108	4	p. 597-607	article
7	Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry	Graff, Mariaelisa			108	4	p. 564-582	article
8	Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia	Bao, Xiuqin			108	4	p. 709-721	article
9	Loss-of-function myeloperoxidase mutations are associated with increased neutrophil counts and pustular skin disease	Vergnano, Marta			108	4	p. 757	article
10	Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations	Martin, Alicia R.			108	4	p. 656-668	article
11	Machine learning-based reclassification of germline variants of unknown significance: The RENOVO algorithm	Favalli, Valentina			108	4	p. 682-695	article
12	Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy	Fatima, Ambrin			108	4	p. 739-748	article
13	Negative selection on complex traits limits phenotype prediction accuracy between populations	Durvasula, Arun			108	4	p. 620-631	article
14	Opportunities and challenges for the computational interpretation of rare variation in clinically important genes	McInnes, Gregory			108	4	p. 535-548	article
15	Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes	Courage, Carolina			108	4	p. 722-738	article
16	Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation	Truty, Rebecca			108	4	p. 696-708	article
17	The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects	Fridman, Hila			108	4	p. 608-619	article
18	This month in The Journal	Ratzel, Sarah			108	4	p. 533-534	article

18 results found

Koninklijke Bibliotheek - National Library of the Netherlands