| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy
|
Djordjevic, Djurdja
|
|
|
109 |
4 |
p. 759-763
|
artikel
|
| 2 |
Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism
|
Franke, Martin
|
|
|
109 |
4 |
p. 553-570
|
artikel
|
| 3 |
Familial long-read sequencing increases yield of de novo mutations
|
Noyes, Michelle D.
|
|
|
109 |
4 |
p. 631-646
|
artikel
|
| 4 |
Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study
|
Wang, Yanbing
|
|
|
109 |
4 |
p. 738-749
|
artikel
|
| 5 |
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome
|
Stephenson, Sarah E.M.
|
|
|
109 |
4 |
p. 601-617
|
artikel
|
| 6 |
Inferring population structure in biobank-scale genomic data
|
Chiu, Alec M.
|
|
|
109 |
4 |
p. 727-737
|
artikel
|
| 7 |
Loss-of-function variants in TIAM1 are associated with developmental delay, intellectual disability, and seizures
|
Lu, Shenzhao
|
|
|
109 |
4 |
p. 571-586
|
artikel
|
| 8 |
Partitioning gene-level contributions to complex-trait heritability by allele frequency identifies disease-relevant genes
|
Burch, Kathryn S.
|
|
|
109 |
4 |
p. 692-709
|
artikel
|
| 9 |
Predicted gene expression in ancestrally diverse populations leads to discovery of susceptibility loci for lifestyle and cardiometabolic traits
|
Highland, Heather M.
|
|
|
109 |
4 |
p. 669-679
|
artikel
|
| 10 |
RAREsim: A simulation method for very rare genetic variants
|
Null, Megan
|
|
|
109 |
4 |
p. 680-691
|
artikel
|
| 11 |
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
|
Tessadori, Federico
|
|
|
109 |
4 |
p. 750-758
|
artikel
|
| 12 |
The functional impact of BRCA1 BRCT domain variants using multiplexed DNA double-strand break repair assays
|
Adamovich, Aleksandra I.
|
|
|
109 |
4 |
p. 618-630
|
artikel
|
| 13 |
The genomic signatures of natural selection in admixed human populations
|
Cuadros-Espinoza, Sebastian
|
|
|
109 |
4 |
p. 710-726
|
artikel
|
| 14 |
The individual and global impact of copy-number variants on complex human traits
|
Auwerx, Chiara
|
|
|
109 |
4 |
p. 647-668
|
artikel
|
| 15 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
4 |
p. 547-548
|
artikel
|
| 16 |
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder
|
Broly, Martin
|
|
|
109 |
4 |
p. 587-600
|
artikel
|
| 17 |
Walter Elmore Nance (1933–2021)
|
Nance, Martha A.
|
|
|
109 |
4 |
p. 549-552
|
artikel
|
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