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 |