| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Bayesian model comparison for rare-variant association studies
|
Venkataraman, Guhan Ram
|
|
|
108 |
12 |
p. 2354-2367
|
artikel
|
| 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
|
artikel
|
| 3 |
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
|
Pottie, Lore
|
|
|
108 |
12 |
p. 2386-2388
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 6 |
Describing human populations: An evolving picture in human genetics research
|
Korf, Bruce R.
|
|
|
108 |
12 |
p. 2207
|
artikel
|
| 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
|
artikel
|
| 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
|
artikel
|
| 9 |
Genomic medicine year in review: 2021
|
Manolio, Teri A.
|
|
|
108 |
12 |
p. 2210-2214
|
artikel
|
| 10 |
H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility
|
Giambartolomei, Claudia
|
|
|
108 |
12 |
p. 2284-2300
|
artikel
|
| 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
|
artikel
|
| 12 |
Improved pathogenicity prediction for rare human missense variants
|
Wu, Yingzhou
|
|
|
108 |
12 |
p. 2389
|
artikel
|
| 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
|
artikel
|
| 14 |
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial
|
Capalbo, Antonio
|
|
|
108 |
12 |
p. 2238-2247
|
artikel
|
| 15 |
Phenome risk classification enables phenotypic imputation and gene discovery in developmental stuttering
|
Shaw, Douglas M.
|
|
|
108 |
12 |
p. 2271-2283
|
artikel
|
| 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
|
artikel
|
| 17 |
This month in The Journal
|
Cullinan, Sara B.
|
|
|
108 |
12 |
p. 2208-2209
|
artikel
|
| 18 |
Welch-weighted Egger regression reduces false positives due to correlated pleiotropy in Mendelian randomization
|
Brown, Brielin C.
|
|
|
108 |
12 |
p. 2319-2335
|
artikel
|
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