1,772 results on '"Cooper, David N."'
Search Results
2. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications
3. Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications
4. Genome-wide prediction of pathogenic gain- and loss-of-function variants from ensemble learning of a diverse feature set
5. Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype–phenotype relationship for variants reported to date
6. The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function
7. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients
8. Eighty million years of rapid evolution of the primate Y chromosome
9. Identifying shared genetic factors underlying epilepsy and congenital heart disease in Europeans
10. Profiling human pathogenic repeat expansion regions by synergistic and multi-level impacts on molecular connections
11. The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson’s disease comorbidity
12. NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads
13. Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
14. Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization
15. Critical assessment of missense variant effect predictors on disease-relevant variant data
16. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
17. AMELIE speeds Mendelian diagnosis by matching patient phenotype and genotype to primary literature
18. AVADA: toward automated pathogenic variant evidence retrieval directly from the full-text literature
19. The genetic structure of the Turkish population reveals high levels of variation and admixture
20. High Clinical and Genetic Similarity Between Chronic Pancreatitis Associated With Light-to-Moderate Alcohol Consumption and Classical Alcoholic Chronic Pancreatitis
21. Trypsinogen (PRSS1 and PRSS2) gene dosage correlates with pancreatitis risk across genetic and transgenic studies: a systematic review and re-analysis
22. Expanding ACMG variant classification guidelines into a general framework
23. Genetic evidence for a causal relationship between type 2 diabetes and peripheral artery disease in both Europeans and East Asians
24. X-CAP improves pathogenicity prediction of stopgain variants
25. The sequencing and interpretation of the genome obtained from a Serbian individual
26. NAA10 polyadenylation signal variants cause syndromic microphthalmia
27. Nucleotide Weight Matrices Reveal Ubiquitous Mutational Footprints of AID/APOBEC Deaminases in Human Cancer Genomes
28. Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
29. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
30. The CEL-HYB1 Hybrid Allele Promotes Digestive Enzyme Misfolding and Pancreatitis in Mice
31. Compensatory epistasis explored by molecular dynamics simulations
32. Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and Transcriptomics
33. Deciphering the Role of Rapidly Evolving Conserved Elements in Primate Brain Development and Exploring Their Potential Involvement in Alzheimer's Disease
34. Common homozygosity for predicted loss-of-function variants reveals both redundant and advantageous effects of dispensable human genes
35. Gene–environment interaction between APOA5 c.553G>T and pregnancy in hypertriglyceridemia-induced acute pancreatitis
36. Analysis of protein-coding genetic variation in 60,706 humans.
37. Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites
38. Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications
39. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
40. Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
41. Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding
42. A probabilistic model to predict clinical phenotypic traits from genome sequencing.
43. Prioritization of schizophrenia risk genes from GWAS results by integrating multi-omics data
44. Mapping the human genome
45. Structure and function in the human genome
46. Genome-wide identification of dominant polyadenylation hexamers for use in variant classification.
47. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
48. Integrative Omics Reveals Rapidly Evolving Regulatory Sequences Driving Primate Brain Evolution
49. Comparative genomics reveals the hybrid origin of a macaque group
50. Phylogenomic analyses provide insights into primate evolution
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