| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways
|
Soave, David
|
|
2015
|
97 |
1 |
p. 125-138
14 p.
|
artikel
|
| 2 |
A 3.4-kb Copy-Number Deletion near EPAS1 Is Significantly Enriched in High-Altitude Tibetans but Absent from the Denisovan Sequence
|
Lou, Haiyi
|
|
2015
|
97 |
1 |
p. 54-66
13 p.
|
artikel
|
| 3 |
A Powerful Pathway-Based Adaptive Test for Genetic Association with Common or Rare Variants
|
Pan, Wei
|
|
2015
|
97 |
1 |
p. 86-98
13 p.
|
artikel
|
| 4 |
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy
|
Haack, Tobias B.
|
|
2015
|
97 |
1 |
p. 163-169
7 p.
|
artikel
|
| 5 |
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci
|
Trynka, Gosia
|
|
2015
|
97 |
1 |
p. 139-152
14 p.
|
artikel
|
| 6 |
F. Clarke Fraser (1920–2014)
|
Rosenblatt, David S.
|
|
2015
|
97 |
1 |
p. 5-
1 p.
|
artikel
|
| 7 |
Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations
|
Shah, Sonia
|
|
2015
|
97 |
1 |
p. 75-85
11 p.
|
artikel
|
| 8 |
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus
|
Prudente, Sabrina
|
|
2015
|
97 |
1 |
p. 177-185
9 p.
|
artikel
|
| 9 |
Meta-analysis for Discovering Rare-Variant Associations: Statistical Methods and Software Programs
|
Tang, Zheng-Zheng
|
|
2015
|
97 |
1 |
p. 35-53
19 p.
|
artikel
|
| 10 |
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation
|
Brand, Harrison
|
|
2015
|
97 |
1 |
p. 170-176
7 p.
|
artikel
|
| 11 |
Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
|
Botkin, Jeffrey R.
|
|
2015
|
97 |
1 |
p. 6-21
16 p.
|
artikel
|
| 12 |
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
|
Darabi, Hatef
|
|
2015
|
97 |
1 |
p. 22-34
13 p.
|
artikel
|
| 13 |
Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation
|
Acuna-Hidalgo, Rocio
|
|
2015
|
97 |
1 |
p. 67-74
8 p.
|
artikel
|
| 14 |
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
|
Marchegiani, Shannon
|
|
2015
|
97 |
1 |
p. 99-110
12 p.
|
artikel
|
| 15 |
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy
|
Reyes, Aurelio
|
|
2015
|
97 |
1 |
p. 186-193
8 p.
|
artikel
|
| 16 |
RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes
|
Jeanson, Ludovic
|
|
2015
|
97 |
1 |
p. 153-162
10 p.
|
artikel
|
| 17 |
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
|
Groza, Tudor
|
|
2015
|
97 |
1 |
p. 111-124
14 p.
|
artikel
|
| 18 |
This Month in Genetics
|
Garber, Kathryn B.
|
|
2015
|
97 |
1 |
p. 3-4
2 p.
|
artikel
|
| 19 |
This Month in The Journal
|
Ratzel, Sarah
|
|
2015
|
97 |
1 |
p. 1-2
2 p.
|
artikel
|
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