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 |