| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A multi-tissue, splicing-based joint transcriptome-wide association study identifies susceptibility genes for breast cancer
|
Gao, Guimin
|
|
|
111 |
6 |
p. 1100-1113
|
artikel
|
| 2 |
An integrative framework to prioritize genes in more than 500 loci associated with body mass index
|
Hemerich, Daiane
|
|
|
111 |
6 |
p. 1035-1046
|
artikel
|
| 3 |
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3
|
Paul, Maimuna S.
|
|
|
111 |
6 |
p. 1239
|
artikel
|
| 4 |
Cis- and trans-eQTL TWASs of breast and ovarian cancer identify more than 100 susceptibility genes in the BCAC and OCAC consortia
|
Head, S. Taylor
|
|
|
111 |
6 |
p. 1084-1099
|
artikel
|
| 5 |
De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features
|
Mullegama, Sureni V.
|
|
|
111 |
6 |
p. 1240
|
artikel
|
| 6 |
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity
|
Kalm, Tassja
|
|
|
111 |
6 |
p. 1206-1221
|
artikel
|
| 7 |
Genome-wide DNA methylation changes in human spermatogenesis
|
Siebert-Kuss, Lara M.
|
|
|
111 |
6 |
p. 1125-1139
|
artikel
|
| 8 |
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants
|
Silva, Dina Buitrago
|
|
|
111 |
6 |
p. 1222-1238
|
artikel
|
| 9 |
Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions
|
Dareng, Eileen O.
|
|
|
111 |
6 |
p. 1061-1083
|
artikel
|
| 10 |
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation
|
Xu, Zhi Ming
|
|
|
111 |
6 |
p. 1018-1034
|
artikel
|
| 11 |
Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network
|
Lewis, Anna C.F.
|
|
|
111 |
6 |
p. 999-1005
|
artikel
|
| 12 |
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
|
Yang, Fang
|
|
|
111 |
6 |
p. 1184-1205
|
artikel
|
| 13 |
Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer
|
Reeve, Mary Pat
|
|
|
111 |
6 |
p. 1047-1060
|
artikel
|
| 14 |
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores
|
Kelemen, Martin
|
|
|
111 |
6 |
p. 1006-1017
|
artikel
|
| 15 |
Telomere-lengthening germline variants predispose to a syndromic papillary thyroid cancer subtype
|
DeBoy, Emily A.
|
|
|
111 |
6 |
p. 1114-1124
|
artikel
|
| 16 |
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
|
Pagnamenta, Alistair T.
|
|
|
111 |
6 |
p. 1140-1164
|
artikel
|
| 17 |
Therapeutic validation of MMR-associated genetic modifiers in a human ex vivo model of Huntington disease
|
Ferguson, Ross
|
|
|
111 |
6 |
p. 1165-1183
|
artikel
|
| 18 |
This Month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
6 |
p. 997-998
|
artikel
|
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