502 results on '"Macarthur, Daniel G."'
Search Results
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
4. Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes
5. Sequencing and characterizing short tandem repeats in the human genome
6. Integrating population genetics, stem cell biology and cellular genomics to study complex human diseases
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
10. Single-cell genomics meets human genetics
11. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
12. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
13. Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
14. Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data
15. The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings
16. Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
17. Transcriptome variation in human tissues revealed by long-read sequencing
18. Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes
19. Centers for Mendelian Genomics: A decade of facilitating gene discovery
20. Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation
21. Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease
22. Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
23. Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease
24. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
25. A Quantitative Proteome Map of the Human Body
26. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
27. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
28. Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer
29. Genetic regulatory variation in populations informs transcriptome analysis in rare disease
30. Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy
31. The effect of LRRK2 loss-of-function variants in humans
32. Evaluating drug targets through human loss-of-function genetic variation
33. Transcript expression-aware annotation improves rare variant interpretation
34. The mutational constraint spectrum quantified from variation in 141,456 humans
35. A structural variation reference for medical and population genetics
36. Severe neurodevelopmental disease caused by a homozygous TLK2 variant
37. Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs
38. Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
39. Insights into genetics, human biology and disease gleaned from family based genomic studies
40. Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
41. Quantitative analysis of population-scale family trees with millions of relatives
42. The Genetic Landscape of Diamond-Blackfan Anemia
43. Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin
44. Human genetic variation alters CRISPR-Cas9 on- and off-targeting specificity at therapeutically implicated loci
45. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
46. Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
47. Publicly Available Data Provide Evidence against NR1H3 R415Q Causing Multiple Sclerosis
48. Health and population effects of rare gene knockouts in adult humans with related parents
49. Phenotype and genetic analysis of data collected within the first year of NeuroDev
50. The impact of rare variation on gene expression across tissues
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