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                             18 results found
no title author magazine year volume issue page(s) type
1 Bayesian model comparison for rare-variant association studies Venkataraman, Guhan Ram

108 12 p. 2354-2367
article
2 Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome Ghosh, Shereen G.

108 12 p. 2385
article
3 Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Pottie, Lore

108 12 p. 2386-2388
article
4 Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia Yap, Zheng Yie

108 12 p. 2368-2384
article
5 Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN Fayer, Shawn

108 12 p. 2248-2258
article
6 Describing human populations: An evolving picture in human genetics research Korf, Bruce R.

108 12 p. 2207
article
7 Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades Byeon, Yen Ji Julia

108 12 p. 2215-2223
article
8 Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics He, Zihuai

108 12 p. 2336-2353
article
9 Genomic medicine year in review: 2021 Manolio, Teri A.

108 12 p. 2210-2214
article
10 H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility Giambartolomei, Claudia

108 12 p. 2284-2300
article
11 Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants Sevim Bayrak, Cigdem

108 12 p. 2301-2318
article
12 Improved pathogenicity prediction for rare human missense variants Wu, Yingzhou

108 12 p. 2389
article
13 Integrative multiomics analysis highlights immune-cell regulatory mechanisms and shared genetic architecture for 14 immune-associated diseases and cancer outcomes Prince, Claire

108 12 p. 2259-2270
article
14 Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial Capalbo, Antonio

108 12 p. 2238-2247
article
15 Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering Shaw, Douglas M.

108 12 p. 2271-2283
article
16 Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization Blout Zawatsky, Carrie L.

108 12 p. 2224-2237
article
17 This month in The Journal Cullinan, Sara B.

108 12 p. 2208-2209
article
18 Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization Brown, Brielin C.

108 12 p. 2319-2335
article
                             18 results found
 
 Koninklijke Bibliotheek - National Library of the Netherlands