| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Anatomy of DNA methylation signatures: Emerging insights and applications
|
Chater-Diehl, Eric
|
|
|
108 |
8 |
p. 1359-1366
|
artikel
|
| 2 |
Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations
|
Cipriani, Valentina
|
|
|
108 |
8 |
p. 1385-1400
|
artikel
|
| 3 |
Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice
|
Tu, Chaofeng
|
|
|
108 |
8 |
p. 1466-1477
|
artikel
|
| 4 |
Common haplotypes at the CFH locus and low-frequency variants in CFHR2 and CFHR5 associate with systemic FHR concentrations and age-related macular degeneration
|
Lorés-Motta, Laura
|
|
|
108 |
8 |
p. 1367-1384
|
artikel
|
| 5 |
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
|
Lombardi, Silvia
|
|
|
108 |
8 |
p. 1512-1525
|
artikel
|
| 6 |
Genome-wide association study reveals an association between the HLA-DPB1∗02:01:02 allele and wheat-dependent exercise-induced anaphylaxis
|
Fukunaga, Koya
|
|
|
108 |
8 |
p. 1540-1548
|
artikel
|
| 7 |
Genomic partitioning of inbreeding depression in humans
|
Yengo, Loic
|
|
|
108 |
8 |
p. 1488-1501
|
artikel
|
| 8 |
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
|
Gergics, Peter
|
|
|
108 |
8 |
p. 1526-1539
|
artikel
|
| 9 |
New approaches to predict the effect of co-occurring variants on protein characteristics
|
Holcomb, David
|
|
|
108 |
8 |
p. 1502-1511
|
artikel
|
| 10 |
Next-generation cytogenetics: Comprehensive assessment of 52 hematological malignancy genomes by optical genome mapping
|
Neveling, Kornelia
|
|
|
108 |
8 |
p. 1423-1435
|
artikel
|
| 11 |
Nonsense-mediated decay is highly stable across individuals and tissues
|
Teran, Nicole A.
|
|
|
108 |
8 |
p. 1401-1408
|
artikel
|
| 12 |
Optical genome mapping enables constitutional chromosomal aberration detection
|
Mantere, Tuomo
|
|
|
108 |
8 |
p. 1409-1422
|
artikel
|
| 13 |
Targeted long-read sequencing identifies missing disease-causing variation
|
Miller, Danny E.
|
|
|
108 |
8 |
p. 1436-1449
|
artikel
|
| 14 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
8 |
p. 1357-1358
|
artikel
|
| 15 |
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders
|
Duncan, Anna R.
|
|
|
108 |
8 |
p. 1450-1465
|
artikel
|
| 16 |
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia
|
Li, Quanlin
|
|
|
108 |
8 |
p. 1478-1487
|
artikel
|
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