| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advancing precision care in pregnancy through a treatable fetal findings list
|
Cohen, Jennifer L.
|
|
|
112 |
6 |
p. 1251-1269
|
artikel
|
| 2 |
A flexible machine learning Mendelian randomization estimator applied to predict the safety and efficacy of sclerostin inhibition
|
Legault, Marc-André
|
|
|
112 |
6 |
p. 1344-1362
|
artikel
|
| 3 |
Benefits and barriers to broad implementation of genomic sequencing in the NICU
|
Goldin, Melissa R.
|
|
|
112 |
6 |
p. 1270-1285
|
artikel
|
| 4 |
Beyond predictive R 2 : Quantile regression and non-equivalence tests reveal complex relationships of traits and polygenic scores
|
Mefford, Joel
|
|
|
112 |
6 |
p. 1363-1375
|
artikel
|
| 5 |
Characterization of non-coding variants associated with transcription-factor binding through ATAC-seq-defined footprint QTLs in liver
|
Dudek, Max F.
|
|
|
112 |
6 |
p. 1302-1315
|
artikel
|
| 6 |
Consultation informs strategies for improving the use of functional evidence in variant classification
|
Villani, Rehan M.
|
|
|
112 |
6 |
p. 1489-1495
|
artikel
|
| 7 |
Identifying active and inhibitor-resistant MGMT variants for gene therapy
|
Cheong, Ana
|
|
|
112 |
6 |
p. 1430-1446
|
artikel
|
| 8 |
Insights on improving accessibility and usability of functional data to unlock their potential for variant interpretation
|
Park, Min Seon
|
|
|
112 |
6 |
p. 1468-1478
|
artikel
|
| 9 |
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
|
Pérez Baca, María del Rocío
|
|
|
112 |
6 |
p. 1388-1414
|
artikel
|
| 10 |
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience
|
Ratnaike, Thiloka
|
|
|
112 |
6 |
p. 1376-1387
|
artikel
|
| 11 |
Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma
|
Pepe, Daniele
|
|
|
112 |
6 |
p. 1447-1467
|
artikel
|
| 12 |
Role of X chromosome and dosage-compensation mechanisms in complex trait genetics
|
Fu, Yu
|
|
|
112 |
6 |
p. 1330-1343
|
artikel
|
| 13 |
Subcontinental genetic variation in the All of Us Research Program: Implications for biomedical research
|
Gouveia, Mateus H.
|
|
|
112 |
6 |
p. 1286-1301
|
artikel
|
| 14 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
6 |
p. 1249-1250
|
artikel
|
| 15 |
Validating data from multiplex assays of variant effect: A CanVIG-UK national survey of NHS clinical scientists
|
Allen, Sophie
|
|
|
112 |
6 |
p. 1479-1488
|
artikel
|
| 16 |
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
|
Guzman, Stacy G.
|
|
|
112 |
6 |
p. 1415-1429
|
artikel
|
| 17 |
Widespread recessive effects on common diseases in a cohort of 44,000 British Pakistanis and Bangladeshis with high autozygosity
|
Heng, Teng Hiang
|
|
|
112 |
6 |
p. 1316-1329
|
artikel
|
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