| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Fast Method that Uses Polygenic Scores to Estimate the Variance Explained by Genome-wide Marker Panels and the Proportion of Variants Affecting a Trait
|
Palla, Luigi
|
|
2015
|
97 |
2 |
p. 250-259
10 p.
|
artikel
|
| 2 |
A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis
|
Ogura, Yoji
|
|
2015
|
97 |
2 |
p. 337-342
6 p.
|
artikel
|
| 3 |
Correcting for Sample Contamination in Genotype Calling of DNA Sequence Data
|
Flickinger, Matthew
|
|
2015
|
97 |
2 |
p. 284-290
7 p.
|
artikel
|
| 4 |
Decoding NF1 Intragenic Copy-Number Variations
|
Hsiao, Meng-Chang
|
|
2015
|
97 |
2 |
p. 238-249
12 p.
|
artikel
|
| 5 |
Incorporating Functional Information in Tests of Excess De Novo Mutational Load
|
Jiang, Yu
|
|
2015
|
97 |
2 |
p. 272-283
12 p.
|
artikel
|
| 6 |
Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies
|
Kichaev, Gleb
|
|
2015
|
97 |
2 |
p. 353-
1 p.
|
artikel
|
| 7 |
Leveraging Functional-Annotation Data in Trans-ethnic Fine-Mapping Studies
|
Kichaev, Gleb
|
|
2015
|
97 |
2 |
p. 260-271
12 p.
|
artikel
|
| 8 |
Long-Range Modulation of PAG1 Expression by 8q21 Allergy Risk Variants
|
Vicente, Cristina T.
|
|
2015
|
97 |
2 |
p. 329-336
8 p.
|
artikel
|
| 9 |
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
|
Snijders Blok, Lot
|
|
2015
|
97 |
2 |
p. 343-352
10 p.
|
artikel
|
| 10 |
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
|
Alby, Caroline
|
|
2015
|
97 |
2 |
p. 311-318
8 p.
|
artikel
|
| 11 |
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
|
Alby, Caroline
|
|
2015
|
97 |
2 |
p. 353-
1 p.
|
artikel
|
| 12 |
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development
|
Vivante, Asaf
|
|
2015
|
97 |
2 |
p. 291-301
11 p.
|
artikel
|
| 13 |
Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages
|
Christofidou, Paraskevi
|
|
2015
|
97 |
2 |
p. 228-237
10 p.
|
artikel
|
| 14 |
Symmetrical Dose-Dependent DNA-Methylation Profiles in Children with Deletion or Duplication of 7q11.23
|
Strong, Emma
|
|
2015
|
97 |
2 |
p. 216-227
12 p.
|
artikel
|
| 15 |
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
|
Chong, Jessica X.
|
|
2015
|
97 |
2 |
p. 199-215
17 p.
|
artikel
|
| 16 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
2 |
p. 197-198
2 p.
|
artikel
|
| 17 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
2 |
p. 195-196
2 p.
|
artikel
|
| 18 |
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
|
Kumar, Raman
|
|
2015
|
97 |
2 |
p. 302-310
9 p.
|
artikel
|
| 19 |
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies
|
Powell, Christopher A.
|
|
2015
|
97 |
2 |
p. 319-328
10 p.
|
artikel
|
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