| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
BRCA1 frameshift variants leading to extended incorrect protein C termini
|
Nepomuceno, Thales C.
|
|
|
4 |
4 |
p.
|
artikel
|
| 2 |
Building an optimal predictive model for imputing tissue-specific gene expression by combining genotype and whole-blood transcriptome data
|
Jung, Sunwoo
|
|
|
4 |
4 |
p.
|
artikel
|
| 3 |
Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma
|
Beird, Hannah C.
|
|
|
4 |
4 |
p.
|
artikel
|
| 4 |
Evaluating genomic polygenic risk scores for childhood acute lymphoblastic leukemia in Latinos
|
Jeon, Soyoung
|
|
|
4 |
4 |
p.
|
artikel
|
| 5 |
Founder population-specific weights yield improvements in performance of polygenic risk scores for Alzheimer disease in the Midwestern Amish
|
Osterman, Michael D.
|
|
|
4 |
4 |
p.
|
artikel
|
| 6 |
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome
|
Nishio, Yosuke
|
|
|
4 |
4 |
p.
|
artikel
|
| 7 |
Genetically predicted waist-to-hip circumference ratio and coronary artery disease: A sex-specific Mendelian randomization study
|
Ye, Qiang
|
|
|
4 |
4 |
p.
|
artikel
|
| 8 |
Heterozygous nonsense variants in laminin subunit 3α resulting in Ebstein’s anomaly
|
Zhou, Zhou
|
|
|
4 |
4 |
p.
|
artikel
|
| 9 |
Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy
|
Shieh, Joseph T.
|
|
|
4 |
4 |
p.
|
artikel
|
| 10 |
Multivariate adaptive shrinkage improves cross-population transcriptome prediction and association studies in underrepresented populations
|
Araujo, Daniel S.
|
|
|
4 |
4 |
p.
|
artikel
|
| 11 |
Phenotypes of undiagnosed adults with actionable OTC and GLA variants
|
Gold, Jessica I.
|
|
|
4 |
4 |
p.
|
artikel
|
| 12 |
Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling
|
Jungels, Apolline
|
|
|
4 |
4 |
p.
|
artikel
|
| 13 |
Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome
|
Blue, Elizabeth E.
|
|
|
4 |
4 |
p.
|
artikel
|
| 14 |
Revealing polygenic pleiotropy using genetic risk scores for asthma
|
Dapas, Matthew
|
|
|
4 |
4 |
p.
|
artikel
|
| 15 |
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
|
Corradi, Zelia
|
|
|
4 |
4 |
p.
|
artikel
|
| 16 |
The legacy of language: What we say, and what people hear, when we talk about genomics
|
Middleton, Anna
|
|
|
4 |
4 |
p.
|
artikel
|
| 17 |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma
|
Jensen, Marlene Richter
|
|
|
4 |
4 |
p.
|
artikel
|
| 18 |
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
|
Robinson, Kelsey
|
|
|
4 |
4 |
p.
|
artikel
|
| 19 |
Universal genome-wide association studies: Powerful joint ancestry and association testing
|
Shriner, Daniel
|
|
|
4 |
4 |
p.
|
artikel
|
| 20 |
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids
|
Sanjurjo-Soriano, Carla
|
|
|
4 |
4 |
p.
|
artikel
|
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