| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Mendelian randomization-based exploration of red blood cell distribution width and mean corpuscular volume with risk of hemorrhagic strokes
|
Liu, Jundong
|
|
|
3 |
4 |
p.
|
artikel
|
| 2 |
An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention
|
Jørsboe, Emil
|
|
|
3 |
4 |
p.
|
artikel
|
| 3 |
An open-label study evaluating the safety, behavioral, and electrophysiological outcomes of low-dose ketamine in children with ADNP syndrome
|
Kolevzon, Alexander
|
|
|
3 |
4 |
p.
|
artikel
|
| 4 |
A probable cis-acting genetic modifier of Huntington disease frequent in individuals with African ancestry
|
Dawson, Jessica
|
|
|
3 |
4 |
p.
|
artikel
|
| 5 |
A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease
|
Chen, Junyu
|
|
|
3 |
4 |
p.
|
artikel
|
| 6 |
Assessing Vietnamese American patient perspectives on population genetic testing in primary care: A community-engaged approach
|
Lemke, Amy A.
|
|
|
3 |
4 |
p.
|
artikel
|
| 7 |
ATTCT and ATTCC repeat expansions in the ATXN10 gene affect disease penetrance of spinocerebellar ataxia type 10
|
Morato Torres, C. Alejandra
|
|
|
3 |
4 |
p.
|
artikel
|
| 8 |
Closing the loop: Editors' feedback on the ASHG readership survey
|
Bamshad, Michael J.
|
|
|
3 |
4 |
p.
|
artikel
|
| 9 |
Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
|
Duan, Ruizhi
|
|
|
3 |
4 |
p.
|
artikel
|
| 10 |
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
|
Nair, Divya
|
|
|
3 |
4 |
p.
|
artikel
|
| 11 |
Genetics for all: Tri-directional research engagement as an equitable framework for international partnerships
|
Billawala, Thalia
|
|
|
3 |
4 |
p.
|
artikel
|
| 12 |
Identifying and correcting for misspecifications in GWAS summary statistics and polygenic scores
|
Privé, Florian
|
|
|
3 |
4 |
p.
|
artikel
|
| 13 |
Leveraging omics data to boost the power of genome-wide association studies
|
Lin, Zhaotong
|
|
|
3 |
4 |
p.
|
artikel
|
| 14 |
Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations
|
Lepamets, Maarja
|
|
|
3 |
4 |
p.
|
artikel
|
| 15 |
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants
|
Mukherjee, Souhrid
|
|
|
3 |
4 |
p.
|
artikel
|
| 16 |
Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone
|
Bryen, Samantha J.
|
|
|
3 |
4 |
p.
|
artikel
|
| 17 |
The past, present, and future for constitutional ring chromosomes: A report of the international consortium for human ring chromosomes
|
Li, Peining
|
|
|
3 |
4 |
p.
|
artikel
|
| 18 |
X chromosome inactivation in the human placenta is patchy and distinct from adult tissues
|
Phung, Tanya N.
|
|
|
3 |
4 |
p.
|
artikel
|
Tijdschrift beschrijving