| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A scalable and robust variance components method reveals insights into the architecture of gene-environment interactions underlying complex traits
|
Pazokitoroudi, Ali
|
|
|
111 |
7 |
p. 1462-1480
|
artikel
|
| 2 |
CanCellVar: A database for single-cell variants map in human cancer
|
Yang, Changbo
|
|
|
111 |
7 |
p. 1420-1430
|
artikel
|
| 3 |
Charting a landmark-driven path forward for population genetics and ancient DNA research in Africa
|
Sawchuk, Elizabeth A.
|
|
|
111 |
7 |
p. 1243-1251
|
artikel
|
| 4 |
Eugenics and the misuse of Mendel
|
Rutherford, Adam
|
|
|
111 |
7 |
p. 1254-1257
|
artikel
|
| 5 |
Evaluation of polygenic scoring methods in five biobanks shows larger variation between biobanks than methods and finds benefits of ensemble learning
|
Monti, Remo
|
|
|
111 |
7 |
p. 1431-1447
|
artikel
|
| 6 |
Exploring the noncoding genome with chromosomal structural rearrangements
|
Morton, Cynthia Casson
|
|
|
111 |
7 |
p. 1258-1260
|
artikel
|
| 7 |
From complete genomes to pangenomes
|
Miga, Karen H.
|
|
|
111 |
7 |
p. 1265-1268
|
artikel
|
| 8 |
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia
|
Manzoni, Claudia
|
|
|
111 |
7 |
p. 1316-1329
|
artikel
|
| 9 |
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
|
Tummala, Hemanth
|
|
|
111 |
7 |
p. 1494
|
artikel
|
| 10 |
GNA14 and GNAQ somatic mutations cause spinal and intracranial extra-axial cavernous hemangiomas
|
Ren, Jian
|
|
|
111 |
7 |
p. 1370-1382
|
artikel
|
| 11 |
High-throughput characterization of functional variants highlights heterogeneity and polygenicity underlying lung cancer susceptibility
|
Long, Erping
|
|
|
111 |
7 |
p. 1405-1419
|
artikel
|
| 12 |
Identification and correction for collider bias in a genome-wide association study of diabetes-related heart failure
|
Sun, Yan V.
|
|
|
111 |
7 |
p. 1481-1493
|
artikel
|
| 13 |
Impact of genome build on RNA-seq interpretation and diagnostics
|
Ungar, Rachel A.
|
|
|
111 |
7 |
p. 1282-1300
|
artikel
|
| 14 |
KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies
|
Yang, Yi
|
|
|
111 |
7 |
p. 1448-1461
|
artikel
|
| 15 |
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature
|
Karayol, Remzi
|
|
|
111 |
7 |
p. 1330-1351
|
artikel
|
| 16 |
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response
|
Deb, Wallid
|
|
|
111 |
7 |
p. 1352-1369
|
artikel
|
| 17 |
Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease
|
Villani, Rehan M.
|
|
|
111 |
7 |
p. 1301-1315
|
artikel
|
| 18 |
The DARC side of genetics in cancer: Breast cancer disparities
|
Martini, Rachel
|
|
|
111 |
7 |
p. 1261-1264
|
artikel
|
| 19 |
The 2023 Distinguished Speakers Symposium: Closing Remarks
|
Wonkam, Ambroise
|
|
|
111 |
7 |
p. 1269-1270
|
artikel
|
| 20 |
The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics
|
Willard, Huntington F.
|
|
|
111 |
7 |
p. 1252-1253
|
artikel
|
| 21 |
The impact of clinical genome sequencing in a global population with suspected rare genetic disease
|
Thorpe, Erin
|
|
|
111 |
7 |
p. 1271-1281
|
artikel
|
| 22 |
This Month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
7 |
p. 1241-1242
|
artikel
|
| 23 |
Truncated variants of MAGEL2 are involved in the etiologies of the Schaaf-Yang and Prader-Willi syndromes
|
Heimdörfer, David
|
|
|
111 |
7 |
p. 1383-1404
|
artikel
|
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