| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Addressing underrepresentation in genomics research through community engagement
|
Lemke, Amy A.
|
|
|
|
9 |
p. 1563-1571
|
artikel
|
| 2 |
Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
|
Singer-Berk, Moriel
|
|
|
|
9 |
p. 1496-1508
|
artikel
|
| 3 |
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
|
Kingsmore, Stephen F.
|
|
|
|
9 |
p. 1605-1619
|
artikel
|
| 4 |
Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus
|
Colli, Leandro M.
|
|
|
|
9 |
p. 1590-1610
|
artikel
|
| 5 |
An RNA-informed dosage sensitivity map reflects the intrinsic functional nature of genes
|
Dong, Danyue
|
|
|
|
9 |
p. 1509-1521
|
artikel
|
| 6 |
A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk
|
Marderstein, Andrew R.
|
|
|
|
9 |
p. 1752-1764
|
artikel
|
| 7 |
A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode
|
Marafi, Dana
|
|
|
|
9 |
p. 1713-1723
|
artikel
|
| 8 |
A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR
|
Xu, Mai
|
|
|
|
9 |
p. 1611-1630
|
artikel
|
| 9 |
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia
|
Terhal, Paulien
|
|
|
|
9 |
p. 1470-1481
|
artikel
|
| 10 |
Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement
|
Kaiyrzhanov, Rauan
|
|
|
|
9 |
p. 1692-1712
|
artikel
|
| 11 |
Blood-based genome-wide DNA methylation correlations across body-fat- and adiposity-related biochemical traits
|
Hatton, Alesha A.
|
|
|
|
9 |
p. 1564-1573
|
artikel
|
| 12 |
Brain-trait-associated variants impact cell-type-specific gene regulation during neurogenesis
|
Aygün, Nil
|
|
|
|
9 |
p. 1647-1668
|
artikel
|
| 13 |
Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms
|
Zhang, Tongwu
|
|
|
|
9 |
p. 1631-1646
|
artikel
|
| 14 |
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
|
Stolz, Jacob R.
|
|
|
|
9 |
p. 1692-1709
|
artikel
|
| 15 |
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay
|
Marom, Ronit
|
|
|
|
9 |
p. 1710-1724
|
artikel
|
| 16 |
Dissecting the high-resolution genetic architecture of complex phenotypes by accurately estimating gene-based conditional heritability
|
Miao, Lin
|
|
|
|
9 |
p. 1534-1548
|
artikel
|
| 17 |
Ethical considerations when co-analyzing ancient DNA and data from private genetic databases
|
Harney, Éadaoin
|
|
|
|
9 |
p. 1447-1453
|
artikel
|
| 18 |
Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing
|
Hanks, Sarah C.
|
|
|
|
9 |
p. 1653-1666
|
artikel
|
| 19 |
Genetic insights into the age-specific biological mechanisms governing human ovarian aging
|
Ojavee, Sven E.
|
|
|
|
9 |
p. 1549-1563
|
artikel
|
| 20 |
Genetics-informed precision treatment formulation in schizophrenia and bipolar disorder
|
Reay, William R.
|
|
|
|
9 |
p. 1620-1637
|
artikel
|
| 21 |
Genetic structure correlates with ethnolinguistic diversity in eastern and southern Africa
|
Atkinson, Elizabeth G.
|
|
|
|
9 |
p. 1667-1679
|
artikel
|
| 22 |
GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals
|
ter Huurne, Menno
|
|
|
|
9 |
p. 1600-1605
|
artikel
|
| 23 |
Identification and single-base gene-editing functional validation of a cis-EPO variant as a genetic predictor for EPO-increasing therapies
|
Harlow, Charli E.
|
|
|
|
9 |
p. 1638-1652
|
artikel
|
| 24 |
Integrative splicing-quantitative-trait-locus analysis reveals risk loci for non-small-cell lung cancer
|
Wang, Yuzhuo
|
|
|
|
9 |
p. 1574-1589
|
artikel
|
| 25 |
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
|
Danis, Daniel
|
|
|
|
9 |
p. 1564-1577
|
artikel
|
| 26 |
Massively parallel characterization of CYP2C9 variant enzyme activity and abundance
|
Amorosi, Clara J.
|
|
|
|
9 |
p. 1735-1751
|
artikel
|
| 27 |
OARD: Open annotations for rare diseases and their phenotypes based on real-world data
|
Liu, Cong
|
|
|
|
9 |
p. 1591-1604
|
artikel
|
| 28 |
On the reproductive capabilities of aneuploid human preimplantation embryos
|
Capalbo, Antonio
|
|
|
|
9 |
p. 1572-1581
|
artikel
|
| 29 |
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population
|
Kivisild, Toomas
|
|
|
|
9 |
p. 1792-1806
|
artikel
|
| 30 |
Position effects at the FGF8 locus are associated with femoral hypoplasia
|
Socha, Magdalena
|
|
|
|
9 |
p. 1725-1734
|
artikel
|
| 31 |
Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm
|
Roychowdhury, Tanmoy
|
|
|
|
9 |
p. 1578-1589
|
artikel
|
| 32 |
Response to Biesecker et al.
|
Hamosh, Ada
|
|
|
|
9 |
p. 1807-1808
|
artikel
|
| 33 |
Response to Hamosh et al.
|
Biesecker, Leslie G.
|
|
|
|
9 |
p. 1809-1810
|
artikel
|
| 34 |
Robust genetic nurture effects on education: A systematic review and meta-analysis based on 38,654 families across 8 cohorts
|
Wang, Biyao
|
|
|
|
9 |
p. 1780-1791
|
artikel
|
| 35 |
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
|
Stark, Zornitza
|
|
|
|
9 |
p. 1551-1557
|
artikel
|
| 36 |
Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience
|
Nelson, Sarah C.
|
|
|
|
9 |
p. 1582-1590
|
artikel
|
| 37 |
Statement on storage and use of genetic materials
|
Astbury, Caroline
|
|
|
|
9 |
p. 1724
|
artikel
|
| 38 |
Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression
|
Mo, Angela
|
|
|
|
9 |
p. 1765-1779
|
artikel
|
| 39 |
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
|
Lowther, Chelsea
|
|
|
|
9 |
p. 1454-1469
|
artikel
|
| 40 |
The ancestry and geographical origins of St Helena’s liberated Africans
|
Sandoval-Velasco, Marcela
|
|
|
|
9 |
p. 1590-1599
|
artikel
|
| 41 |
The omnigenic model and polygenic prediction of complex traits
|
Mathieson, Iain
|
|
|
|
9 |
p. 1558-1563
|
artikel
|
| 42 |
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
|
McGurk, Kathryn A.
|
|
|
|
9 |
p. 1482-1495
|
artikel
|
| 43 |
The phenotype-genotype reference map: Improving biobank data science through replication
|
Bastarache, Lisa
|
|
|
|
9 |
p. 1522-1533
|
artikel
|
| 44 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
9 |
p. 1561-1562
|
artikel
|
| 45 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
|
9 |
p. 1549-1550
|
artikel
|
| 46 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
9 |
p. 1445-1446
|
artikel
|
| 47 |
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila
|
Goodman, Lindsey D.
|
|
|
|
9 |
p. 1669-1691
|
artikel
|
| 48 |
Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations
|
Kumar, Vikrant
|
|
|
|
9 |
p. 1680-1691
|
artikel
|
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