| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
|
Rafehi, Haloom
|
|
|
110 |
1 |
p. 105-119
|
artikel
|
| 2 |
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration
|
Muffels, Irena J.J.
|
|
|
110 |
1 |
p. 146-160
|
artikel
|
| 3 |
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders
|
Wiel, Laurens
|
|
|
110 |
1 |
p. 92-104
|
artikel
|
| 4 |
Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes
|
Lansdon, Lisa A.
|
|
|
110 |
1 |
p. 71-91
|
artikel
|
| 5 |
Genotype first: Clinical genomics research through a reverse phenotyping approach
|
Wilczewski, Caralynn M.
|
|
|
110 |
1 |
p. 3-12
|
artikel
|
| 6 |
Is the disease risk and penetrance in Leber hereditary optic neuropathy actually low?
|
Mackey, David A.
|
|
|
110 |
1 |
p. 170-176
|
artikel
|
| 7 |
LDAK-GBAT: Fast and powerful gene-based association testing using summary statistics
|
Berrandou, Takiy-Eddine
|
|
|
110 |
1 |
p. 23-29
|
artikel
|
| 8 |
Leveraging drug perturbation to reveal genetic regulators of hepatic gene expression in African Americans
|
Zhong, Yizhen
|
|
|
110 |
1 |
p. 58-70
|
artikel
|
| 9 |
Low disease risk and penetrance in Leber hereditary optic neuropathy
|
Watson, Eloise C.
|
|
|
110 |
1 |
p. 166-169
|
artikel
|
| 10 |
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data
|
Li, Ang
|
|
|
110 |
1 |
p. 30-43
|
artikel
|
| 11 |
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits
|
Okamoto, Jeffrey
|
|
|
110 |
1 |
p. 44-57
|
artikel
|
| 12 |
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
|
Paul, Maimuna S.
|
|
|
110 |
1 |
p. 120-145
|
artikel
|
| 13 |
SDPRX: A statistical method for cross-population prediction of complex traits
|
Zhou, Geyu
|
|
|
110 |
1 |
p. 13-22
|
artikel
|
| 14 |
Statistical phasing of 150,119 sequenced genomes in the UK Biobank
|
Browning, Brian L.
|
|
|
110 |
1 |
p. 161-165
|
artikel
|
| 15 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
1 |
p. 1-2
|
artikel
|
Tijdschrift beschrijving