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2. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

3. A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

7. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

8. A genomic mutational constraint map using variation in 76,156 human genomes

9. Inferring compound heterozygosity from large-scale exome sequencing data

11. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease

12. Variant interpretation using population databases: lessons from gnomAD

13. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders

14. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes

16. The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings

17. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

18. A structural variation reference for medical and population genetics

19. Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer

20. Transcriptome variation in human tissues revealed by long-read sequencing

21. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

22. Centers for Mendelian Genomics: A decade of facilitating gene discovery

24. A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica.

25. Quantitative analysis of population-scale family trees with millions of relatives

26. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease

27. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

28. Correction: Corrigendum: High-throughput discovery of novel developmental phenotypes

29. Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis

30. Co-expression networks reveal the tissue-specific regulation of transcription and splicing

31. Dynamic landscape and regulation of RNA editing in mammals

32. Landscape of X chromosome inactivation across human tissues

33. The impact of rare variation on gene expression across tissues

34. Genetic effects on gene expression across human tissues

35. Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

36. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

37. Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

38. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

39. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development

40. A Quantitative Proteome Map of the Human Body

41. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

42. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

43. Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer

44. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

45. High-throughput discovery of novel developmental phenotypes.

46. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome

47. Analysis of protein-coding genetic variation in 60,706 humans.

50. The effect of LRRK2 loss-of-function variants in humans

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