| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP
|
Mah-Som, Annelise Y.
|
|
|
110 |
11 |
p. 1959-1975
|
artikel
|
| 2 |
A scalable approach to characterize pleiotropy across thousands of human diseases and complex traits using GWAS summary statistics
|
Zhang, Zixuan
|
|
|
110 |
11 |
p. 1863-1874
|
artikel
|
| 3 |
Contribution and therapeutic implications of retroelement insertions in ataxia telangiectasia
|
Zhao, Boxun
|
|
|
110 |
11 |
p. 1976-1982
|
artikel
|
| 4 |
Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes
|
Miga, Karen H.
|
|
|
110 |
11 |
p. 1832-1840
|
artikel
|
| 5 |
Estimating heritability explained by local ancestry and evaluating stratification bias in admixture mapping from summary statistics
|
Chan, Tsz Fung
|
|
|
110 |
11 |
p. 1853-1862
|
artikel
|
| 6 |
Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits
|
Tang, David
|
|
|
110 |
11 |
p. 1875-1887
|
artikel
|
| 7 |
Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA
|
Xiao, Sihao
|
|
|
110 |
11 |
p. 1903-1918
|
artikel
|
| 8 |
Identification of a robust DNA methylation signature for Fanconi anemia
|
Pagliara, Daria
|
|
|
110 |
11 |
p. 1938-1949
|
artikel
|
| 9 |
Potentially pathogenic and pathogenic G6PD variants
|
Luzzatto, Lucio
|
|
|
110 |
11 |
p. 1983-1985
|
artikel
|
| 10 |
Power of inclusion: Enhancing polygenic prediction with admixed individuals
|
Tanigawa, Yosuke
|
|
|
110 |
11 |
p. 1888-1902
|
artikel
|
| 11 |
Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing
|
Linder, Jodell E.
|
|
|
110 |
11 |
p. 1950-1958
|
artikel
|
| 12 |
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
|
Nil, Zelha
|
|
|
110 |
11 |
p. 1919-1937
|
artikel
|
| 13 |
Response to Luzzatto et al.
|
Geck, Renee C.
|
|
|
110 |
11 |
p. 1986
|
artikel
|
| 14 |
The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care
|
Vassy, Jason L.
|
|
|
110 |
11 |
p. 1841-1852
|
artikel
|
| 15 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
110 |
11 |
p. 1827-1828
|
artikel
|
| 16 |
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030
|
Gunter, Chris
|
|
|
110 |
11 |
p. 1829-1831
|
artikel
|
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