1,025 results on '"Shaw, Chad A."'
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2. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.
3. Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data.
4. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
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. Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.
10. Centers for Mendelian Genomics: A decade of facilitating gene discovery
11. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits
12. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
13. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels
14. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder
15. Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.
16. Increased Moraxella and Streptococcus species abundance after severe bronchiolitis is associated with recurrent wheezing
17. Genome Sequencing in the Parkinson Disease Clinic
18. Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis
19. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma
20. The impact of the Turkish (TK) population variome on the genomic architecture of rare disease traits
21. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2
22. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies
23. Effects of genetic variation in protease activated receptor 4 after an acute coronary syndrome: Analysis from the TRACER trial
24. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles
25. 3038 – INFECTION ACTIVATED HEMATOPOIETIC STEM CELLS MEDIATE TRAINED IMMUNITY
26. An Orderly Retreat: Dedifferentiation Is a Regulated Process
27. Clinical genome sequencing: Three years’ experience at a tertiary children’s hospital
28. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations
29. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
30. An Organismal CNV Mutator Phenotype Restricted to Early Human Development
31. Combinatorial inhibition of PTPN12-regulated receptors leads to a broadly effective therapeutic strategy in triple-negative breast cancer
32. Sox7‐positive endothelial progenitors establish coronary arteries and govern ventricular compaction
33. The impact of clinical genome sequencing in a global population of patients with suspected rare genetic disease
34. Molecular diagnostic experience of whole-exome sequencing in adult patients
35. A paradox of transcriptional and functional innate interferon responses of human intestinal enteroids to enteric virus infection
36. Integrative Multi-omic Analysis of Human Platelet eQTLs Reveals Alternative Start Site in Mitofusin 2
37. Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects
38. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA
39. A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
40. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
41. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
42. Anti–miR-148a regulates platelet FcγRIIA signaling and decreases thrombosis in vivo in mice
43. Somatic mosaicism: implications for disease and transmission genetics
44. Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements
45. Mus81 and converging forks limit the mutagenicity of replication fork breakage
46. MeCP2 binds to non-CG methylated DNA as neurons mature, influencing transcription and the timing of onset for Rett syndrome
47. 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
48. 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
49. 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
50. Data from A Renewable Tissue Resource of Phenotypically Stable, Biologically and Ethnically Diverse, Patient-Derived Human Breast Cancer Xenograft Models
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