| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A form of muscular dystrophy associated with pathogenic variants in JAG2
|
Coppens, Sandra
|
|
|
108 |
5 |
p. 840-856
|
article
|
| 2 |
Efficient mixed model approach for large-scale genome-wide association studies of ordinal categorical phenotypes
|
Bi, Wenjian
|
|
|
108 |
5 |
p. 825-839
|
article
|
| 3 |
Engagement and return of results preferences among a primarily African American genomic sequencing research cohort
|
Lewis, Katie L.
|
|
|
108 |
5 |
p. 894-902
|
article
|
| 4 |
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals
|
Hivert, Valentin
|
|
|
108 |
5 |
p. 786-798
|
article
|
| 5 |
Estimation of non-additive genetic variance in human complex traits from a large sample of unrelated individuals
|
Hivert, Valentin
|
|
|
108 |
5 |
p. 962
|
article
|
| 6 |
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
|
Zhao, Xuefang
|
|
|
108 |
5 |
p. 919-928
|
article
|
| 7 |
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
|
Latypova, Xenia
|
|
|
108 |
5 |
p. 929-941
|
article
|
| 8 |
Impaired cholesterol efflux in retinal pigment epithelium of individuals with juvenile macular degeneration
|
Tsai, Yi-Ting
|
|
|
108 |
5 |
p. 903-918
|
article
|
| 9 |
2020 McKusick Award address
|
Byers, Peter H.
|
|
|
108 |
5 |
p. 761-763
|
article
|
| 10 |
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
|
Jeanne, Médéric
|
|
|
108 |
5 |
p. 951-961
|
article
|
| 11 |
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression
|
Garg, Paras
|
|
|
108 |
5 |
p. 809-824
|
article
|
| 12 |
Quantifying the contribution of dominance deviation effects to complex trait variation in biobank-scale data
|
Pazokitoroudi, Ali
|
|
|
108 |
5 |
p. 799-808
|
article
|
| 13 |
Somatic MAP3K3 mutation defines a subclass of cerebral cavernous malformation
|
Weng, Jiancong
|
|
|
108 |
5 |
p. 942-950
|
article
|
| 14 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
5 |
p. 759-760
|
article
|
| 15 |
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
|
Voisin, Norine
|
|
|
108 |
5 |
p. 857-873
|
article
|
| 16 |
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
|
Hu, Yao
|
|
|
108 |
5 |
p. 874-893
|
article
|
| 17 |
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
|
Depienne, Christel
|
|
|
108 |
5 |
p. 764-785
|
article
|
Journal description