43 results on '"Shaw, Chad A."'
Search Results
2. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
3. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-free Fetal DNA
4. Supplement to: Resolution of disease phenotypes resulting from multilocus genomic variation.
5. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
6. Evidence for Feasibility of Fetal Trophoblastic Cell-Based Noninvasive Prenatal Testing
7. Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
8. The spliceosome is a therapeutic vulnerability in MYC-driven cancer
9. DNA REPAIR: Mus81 and converging forks limit the mutagenicity of replication fork breakage
10. Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
11. Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination
12. NetComm: a network analysis tool based on communicability
13. CGG repeats in RNA modulate expression of TDP-43 in mouse and fly models of fragile X tremor ataxia syndrome
14. An efficient algorithm for accurate computation of the Dirichlet-multinomial log-likelihood function
15. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure
16. RAS–MAPK–MSK1 pathway modulates ataxin 1 protein levels and toxicity in SCA1
17. Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders
18. The Hematopoietic Expression Viewer: expanding mobile apps as a scientific tool
19. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression
20. Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature
21. A SUMOylation-Dependent Transcriptional Subprogram Is Required for Myc-Driven Tumorigenesis
22. Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays
23. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats
24. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE
25. Exercise and Genetic Rescue of SCA1 via the Transcriptional Repressor Capicua
26. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia
27. Detection of clinically relevant exonic copy-number changes by array CGH†
28. Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism
29. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus
30. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching
31. Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases†
32. Identification of Chromosome Abnormalities in Subtelomeric Regions by Microarray Analysis: A Study of 5,380 Cases
33. Validation of a targeted DNA microarray for the clinical evaluation of recurrent abnormalities in chronic lymphocytic leukemia
34. Low-Level Mosaicism of Trisomy 14: Phenotypic and Molecular Characterization
35. MeCP2, a Key Contributor to Neurological Disease, Activates and Represses Transcription
36. Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics
37. Chromosomal Microarray Analysis (CMA) Detects a Large X Chromosome Deletion Including FMR1, FMR2, and IDS in a Female Patient With Mental Retardation
38. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease
39. Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia
40. Array-Based Comparative Genomic Hybridization Analysis of Recurrent Chromosome 15q Rearrangements
41. Monosomy 1p36 breakpoint junctions suggest pre-meiotic breakage–fusion–bridge cycles are involved in generating terminal deletions
42. Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions
43. Theoretical Consideration of Amplification Strategies
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