| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A form of inherited hyperferritinemia associated with bi-allelic pathogenic variants of STAB1
|
Monfrini, Edoardo
|
|
|
110 |
8 |
p. 1436-1443
|
artikel
|
| 2 |
An allelic-series rare-variant association test for candidate-gene discovery
|
McCaw, Zachary R.
|
|
|
110 |
8 |
p. 1330-1342
|
artikel
|
| 3 |
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
|
Wojcik, Monica H.
|
|
|
110 |
8 |
p. 1229-1248
|
artikel
|
| 4 |
Combined CRISPRi and proteomics screening reveal a cohesin-CTCF-bound allele contributing to increased expression of RUVBL1 and prostate cancer progression
|
Tian, Yijun
|
|
|
110 |
8 |
p. 1289-1303
|
artikel
|
| 5 |
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
|
Morleo, Manuela
|
|
|
110 |
8 |
p. 1377-1393
|
artikel
|
| 6 |
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis
|
Arruda, Ana Luiza
|
|
|
110 |
8 |
p. 1304-1318
|
artikel
|
| 7 |
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
|
Sanchis-Juan, Alba
|
|
|
110 |
8 |
p. 1343-1355
|
artikel
|
| 8 |
Genotype error due to low-coverage sequencing induces uncertainty in polygenic scoring
|
Petter, Ella
|
|
|
110 |
8 |
p. 1319-1329
|
artikel
|
| 9 |
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes
|
Duan, Yuan-Yuan
|
|
|
110 |
8 |
p. 1266-1288
|
artikel
|
| 10 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder
|
Niggl, Eva
|
|
|
110 |
8 |
p. 1414-1435
|
artikel
|
| 11 |
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease
|
Calame, Daniel G.
|
|
|
110 |
8 |
p. 1394-1413
|
artikel
|
| 12 |
Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon
|
O’Brien, Timothy D.
|
|
|
110 |
8 |
p. 1249-1265
|
artikel
|
| 13 |
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration
|
Vetro, Annalisa
|
|
|
110 |
8 |
p. 1356-1376
|
artikel
|
| 14 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
8 |
p. 1227-1228
|
artikel
|
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