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                             19 gevonden resultaten
nr titel auteur tijdschrift jaar jaarg. afl. pagina('s) type
1 An integrative multi-context Mendelian randomization method for identifying risk genes across human tissues Lu, Yihao

111 8 p. 1736-1749
artikel
2 A transcriptomic atlas of the human brain reveals genetically determined aspects of neuropsychiatric health Bledsoe, Xavier

111 8 p. 1559-1572
artikel
3 Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics Hu, Xianghong

111 8 p. 1717-1735
artikel
4 Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain Dias, Caroline

111 8 p. 1544-1558
artikel
5 Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Rots, Dmitrijs

111 8 p. 1605-1625
artikel
6 De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder Yoon, Jihoon G.

111 8 p. 1588-1604
artikel
7 Ensuring best practice in genomics education: A scoping review of genomics education needs assessments and evaluations Nisselle, Amy

111 8 p. 1508-1523
artikel
8 Ensuring best practice in genomics education: A theory- and empirically informed evaluation framework Nisselle, Amy

111 8 p. 1497-1507
artikel
9 Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation Gilbert, Melissa A.

111 8 p. 1656-1672
artikel
10 Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations Haghshenas, Sadegheh

111 8 p. 1643-1655
artikel
11 Inferring causal direction between two traits using R 2 with application to transcriptome-wide association studies Liao, Huiling

111 8 p. 1782-1795
artikel
12 JASPER: Fast, powerful, multitrait association testing in structured samples gives insight on pleiotropy in gene expression Mbatchou, Joelle

111 8 p. 1750-1769
artikel
13 Misexpression of inactive genes in whole blood is associated with nearby rare structural variants Vanderstichele, Thomas

111 8 p. 1524-1543
artikel
14 Ornaments for efficient allele-specific expression estimation with bias correction Adduri, Abhinav

111 8 p. 1770-1781
artikel
15 Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes Rots, Dmitrijs

111 8 p. 1626-1642
artikel
16 RNA variant assessment using transactivation and transdifferentiation Nicolas-Martinez, Emmylou C.

111 8 p. 1673-1699
artikel
17 Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia Hervoso, Jonatan L.

111 8 p. 1573-1587
artikel
18 Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B Plender, Elizabeth G.

111 8 p. 1700-1716
artikel
19 This Month in The Journal Barnes, Alyson B.

111 8 p. 1495-1496
artikel
                             19 gevonden resultaten
 
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