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                             18 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions Garg, Paras

107 4 p. 654-669
artikel
2 Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics Luningham, Justin M.

107 4 p. 714-726
artikel
3 De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation Mendoza-Ferreira, Natalia

107 4 p. 763-777
artikel
4 De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity Cristofoli, Francesca

107 4 p. 753-762
artikel
5 eQTL Colocalization Analyses Identify NTN4 as a Candidate Breast Cancer Risk Gene Beesley, Jonathan

107 4 p. 778-787
artikel
6 Generalizability of “GWAS Hits” in Clinical Populations: Lessons from Childhood Cancer Survivors Im, Cindy

107 4 p. 636-653
artikel
7 Genome-wide Study Identifies Association between HLA-B∗55:01 and Self-Reported Penicillin Allergy Krebs, Kristi

107 4 p. 612-621
artikel
8 Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project Roman, Tamara S.

107 4 p. 596-611
artikel
9 Global Public Perceptions of Genomic Data Sharing: What Shapes the Willingness to Donate DNA and Health Data? Middleton, Anna

107 4 p. 743-752
artikel
10 Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations Martin, Alicia R.

107 4 p. 788-789
artikel
11 Inferring Gene-by-Environment Interactions with a Bayesian Whole-Genome Regression Model Kerin, Matthew

107 4 p. 698-713
artikel
12 Lessons Learned from Bugs in Models of Human History Ragsdale, Aaron P.

107 4 p. 583-588
artikel
13 Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations Connaughton, Dervla M.

107 4 p. 727-742
artikel
14 Ovarian Cancer Risk Variants Are Enriched in Histotype-Specific Enhancers and Disrupt Transcription Factor Binding Sites Jones, Michelle R.

107 4 p. 622-635
artikel
15 Roadmap for Establishing Large-Scale Genomic Medicine Initiatives in Low- and Middle-Income Countries Patrinos, George P.

107 4 p. 589-595
artikel
16 Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies Galer, Peter D.

107 4 p. 683-697
artikel
17 This Month in The Journal Ratzel, Sarah

107 4 p. 581-582
artikel
18 Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation Althari, Sara

107 4 p. 670-682
artikel
                             18 gevonden resultaten
 
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