966 results on '"Shaw, Chad A."'
Search Results
2. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
3. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
4. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
5. The impact of clinical genome sequencing in a global population with suspected rare genetic disease
6. The impact of the Turkish population variome on the genomic architecture of rare disease traits
7. High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
8. Hematopoietic stem and progenitor cells confer cross-protective trained immunity in mouse models
9. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
10. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
11. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
12. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
13. Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing
14. Genome Sequencing in the Parkinson Disease Clinic
15. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
16. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
17. Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital
18. 3038 – INFECTION ACTIVATED HEMATOPOIETIC STEM CELLS MEDIATE TRAINED IMMUNITY
19. Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial
20. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
21. An Orderly Retreat: Dedifferentiation Is a Regulated Process
22. A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection
23. Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction
24. The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease
25. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects
26. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations
27. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
28. Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer
29. Supplementary Tables from HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer
30. Supplementary information from HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer
31. Supplementary Figures from HER2 Reactivation through Acquisition of the HER2 L755S Mutation as a Mechanism of Acquired Resistance to HER2-targeted Therapy in HER2+ Breast Cancer
32. Data from A Renewable Tissue Resource of Phenotypically Stable, Biologically and Ethnically Diverse, Patient-Derived Human Breast Cancer Xenograft Models
33. Anti–miR-148a regulates platelet FcγRIIA signaling and decreases thrombosis in vivo in mice
34. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA
35. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
36. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
37. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
38. O38: The impact of whole genome sequencing in a diverse global population of genetic disease patients*
39. High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations
40. Mus81 and converging forks limit the mutagenicity of replication fork breakage
41. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
42. Analysis of 13 cell types reveals evidence for the expression of numerous novel primate- and tissue-specific microRNAs
43. Common variants in the human platelet PAR4 thrombin receptor alter platelet function and differ by race
44. Pathway-Centric Integrative Analysis Identifies RRM2 as a Prognostic Marker in Breast Cancer Associated with Poor Survival and Tamoxifen Resistance
45. Human platelet microRNA-mRNA networks associated with age and gender revealed by integrated plateletomics
46. Supplement to: Resolution of disease phenotypes resulting from multilocus genomic variation.
47. Publisher Correction: EMT cells increase breast cancer metastasis via paracrine GLI activation in neighbouring tumour cells
48. Identifying phenotypic expansions for congenital diaphragmatic hernia plus ( CDH +) using DECIPHER data
49. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
50. Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing
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