| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines
|
Saitou, Marie
|
|
|
111 |
12 |
p. 2814-2825
|
artikel
|
| 2 |
A missense variant effect map for the human tumor-suppressor protein CHK2
|
Gebbia, Marinella
|
|
|
111 |
12 |
p. 2675-2692
|
artikel
|
| 3 |
Comparative analysis of predicted DNA secondary structures infers complex human centromere topology
|
Chittoor, Sai Swaroop
|
|
|
111 |
12 |
p. 2707-2719
|
artikel
|
| 4 |
3D genome topology distinguishes molecular subgroups of medulloblastoma
|
Lee, John J.Y.
|
|
|
111 |
12 |
p. 2720-2734
|
artikel
|
| 5 |
Employing effective recruitment and retention strategies to engage a diverse pediatric population in genomics research
|
Ramos, Michelle A.
|
|
|
111 |
12 |
p. 2607-2617
|
artikel
|
| 6 |
Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial
|
Kingsmore, Stephen F.
|
|
|
111 |
12 |
p. 2643-2667
|
artikel
|
| 7 |
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions
|
Zhu, Bin
|
|
|
111 |
12 |
p. 2773-2788
|
artikel
|
| 8 |
Genomic medicine year in review: 2024
|
Manolio, Teri A.
|
|
|
111 |
12 |
p. 2585-2588
|
artikel
|
| 9 |
GPS-Net: Discovering prognostic pathway modules based on network regularized kernel learning
|
Yao, Sijie
|
|
|
111 |
12 |
p. 2826-2838
|
artikel
|
| 10 |
Inherited infertility: Mapping loci associated with impaired female reproduction
|
Ruotsalainen, Sanni
|
|
|
111 |
12 |
p. 2789-2798
|
artikel
|
| 11 |
Local genetic correlation via knockoffs reduces confounding due to cross-trait assortative mating
|
Ma, Shiyang
|
|
|
111 |
12 |
p. 2839-2848
|
artikel
|
| 12 |
Monoallelic pathogenic variants in LEPR do not cause obesity
|
Delplanque, Jérôme
|
|
|
111 |
12 |
p. 2668-2674
|
artikel
|
| 13 |
Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection
|
Kingsmore, Stephen F.
|
|
|
111 |
12 |
p. 2618-2642
|
artikel
|
| 14 |
Primary cartilage transcriptional signatures reflect cell-type-specific molecular pathways underpinning osteoarthritis
|
Katsoula, Georgia
|
|
|
111 |
12 |
p. 2735-2755
|
artikel
|
| 15 |
Proteome-wide Mendelian randomization and functional studies uncover therapeutic targets for polycystic ovarian syndrome
|
Ni, Feida
|
|
|
111 |
12 |
p. 2799-2813
|
artikel
|
| 16 |
Resolution of ring chromosomes, Robertsonian translocations, and complex structural variants from long-read sequencing and telomere-to-telomere assembly
|
Mostovoy, Yulia
|
|
|
111 |
12 |
p. 2693-2706
|
artikel
|
| 17 |
The methylomic landscape of human articular cartilage development contains epigenetic signatures of osteoarthritis risk
|
McDonnell, Euan
|
|
|
111 |
12 |
p. 2756-2772
|
artikel
|
| 18 |
The PRIMED Consortium: Reducing disparities in polygenic risk assessment
|
Kullo, Iftikhar J.
|
|
|
111 |
12 |
p. 2594-2606
|
artikel
|
| 19 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
12 |
p. 2583-2584
|
artikel
|
| 20 |
Toward trustable use of machine learning models of variant effects in the clinic
|
Dias, Mafalda
|
|
|
111 |
12 |
p. 2589-2593
|
artikel
|
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