| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
|
Vitobello, Antonio
|
|
|
109 |
8 |
p. 1436-1457
|
artikel
|
| 2 |
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids
|
Ramdas, Shweta
|
|
|
109 |
8 |
p. 1366-1387
|
artikel
|
| 3 |
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
|
Rosenhahn, Erik
|
|
|
109 |
8 |
p. 1421-1435
|
artikel
|
| 4 |
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
|
Ziegler, Alban
|
|
|
109 |
8 |
p. 1549-1558
|
artikel
|
| 5 |
“Choice of law” in precision medicine research
|
Beskow, Laura M.
|
|
|
109 |
8 |
p. 1347-1352
|
artikel
|
| 6 |
Exome sequencing reveals a distinct somatic genomic landscape in breast cancer from women with germline PTEN variants
|
Brewer, Takae
|
|
|
109 |
8 |
p. 1520-1533
|
artikel
|
| 7 |
Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita
|
Tummala, Hemanth
|
|
|
109 |
8 |
p. 1472-1483
|
artikel
|
| 8 |
Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure
|
Riera-Escamilla, Antoni
|
|
|
109 |
8 |
p. 1458-1471
|
artikel
|
| 9 |
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
|
Kozlova, Alena
|
|
|
109 |
8 |
p. 1500-1519
|
artikel
|
| 10 |
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
|
Lemoine, Hugo
|
|
|
109 |
8 |
p. 1484-1499
|
artikel
|
| 11 |
Multi-ancestry fine-mapping improves precision to identify causal genes in transcriptome-wide association studies
|
Lu, Zeyun
|
|
|
109 |
8 |
p. 1388-1404
|
artikel
|
| 12 |
Natural Selection Shapes Codon Usage in the Human Genome
|
Dhindsa, Ryan S.
|
|
|
109 |
8 |
p. 1559
|
artikel
|
| 13 |
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
|
|
|
|
109 |
8 |
p. 1353-1365
|
artikel
|
| 14 |
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA
|
Romano, Giulia
|
|
|
109 |
8 |
p. 1534-1548
|
artikel
|
| 15 |
Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls
|
Avadhanam, Siddharth
|
|
|
109 |
8 |
p. 1405-1420
|
artikel
|
| 16 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
8 |
p. 1345-1346
|
artikel
|
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