| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Autism-specific PTEN p.Ile135Leu variant and an autism genetic background combine to dysregulate cortical neurogenesis
|
Fu, Shuai
|
|
|
110 |
5 |
p. 826-845
|
artikel
|
| 2 |
Bi-allelic variants in INTS11 are associated with a complex neurological disorder
|
Tepe, Burak
|
|
|
110 |
5 |
p. 774-789
|
artikel
|
| 3 |
De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis
|
Timberlake, Andrew T.
|
|
|
110 |
5 |
p. 846-862
|
artikel
|
| 4 |
Dissecting the polygenic basis of atherosclerosis via disease-associated cell state signatures
|
Örd, Tiit
|
|
|
110 |
5 |
p. 722-740
|
artikel
|
| 5 |
Fast and accurate Bayesian polygenic risk modeling with variational inference
|
Zabad, Shadi
|
|
|
110 |
5 |
p. 741-761
|
artikel
|
| 6 |
Genetic heritage of the Baphuthi highlights an over-ethnicized notion of “Bushman” in the Maloti-Drakensberg, southern Africa
|
Daniels, Ryan Joseph
|
|
|
110 |
5 |
p. 880-894
|
artikel
|
| 7 |
Kurt Hirschhorn (1926–2022)
|
Gelb, Bruce D.
|
|
|
110 |
5 |
p. 717-721
|
artikel
|
| 8 |
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
|
Smallwood, Kelly
|
|
|
110 |
5 |
p. 809-825
|
artikel
|
| 9 |
Scalable mixed model methods for set-based association studies on large-scale categorical data analysis and its application to exome-sequencing data in UK Biobank
|
Bi, Wenjian
|
|
|
110 |
5 |
p. 762-773
|
artikel
|
| 10 |
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
|
Bogaert, Elke
|
|
|
110 |
5 |
p. 790-808
|
artikel
|
| 11 |
The functional impact of 1,570 individual amino acid substitutions in human OTC
|
Lo, Russell S.
|
|
|
110 |
5 |
p. 863-879
|
artikel
|
| 12 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
5 |
p. 715-716
|
artikel
|
| 13 |
Trio RNA sequencing in a cohort of medically complex children
|
Deshwar, Ashish R.
|
|
|
110 |
5 |
p. 895-900
|
artikel
|
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