670 results on '"Kirk, Edwin"'
Search Results
2. A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
3. Toward Accessible Reproductive Genetic Carrier Screening: Considerations for Implementation at Scale
4. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
5. A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship
6. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
7. Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening
8. Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection
9. Health professionals’ role in the transfer of mosaic embryos after preimplantation genetic testing for aneuploidies
10. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
11. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
12. The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review
13. The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain
14. A new era of genetic testing in congenital heart disease: A review
15. Decisional needs of patients considering preimplantation genetic testing: a systematic review
16. Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant
17. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome
18. Whole genome sequencing in transposition of the great arteries and associations with clinically relevant heart, brain and laterality genes
19. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
20. Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
21. Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency
22. Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.
23. Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
24. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)
25. Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency
26. Identification of clinically actionable variants from genome sequencing of families with congenital heart disease
27. Personal genomic screening: How best to facilitate preparedness of future clients
28. Beyond the panel: preconception screening in consanguineous couples using the TruSight One “clinical exome”
29. A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration
30. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
31. Tell me once, tell me soon: parents’ preferences for clinical genetics services for congenital heart disease
32. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations
33. Genetic burden and associations with adverse neurodevelopment in neonates with congenital heart disease
34. Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate
35. Preconception and antenatal carrier screening for genetic conditions: 'The critical role of general practitioners'
36. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP
37. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
38. Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness.
39. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
40. The promises and challenges of exome sequencing in familial, non-syndromic congenital heart disease
41. User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia
42. Should genes for non‐syndromic hearing loss be included in reproductive genetic carrier screening: Views of people with a personal or family experience of deafness
43. The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers
44. Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
45. Quantitative trait and transcriptome analysis of genetic complexity underpinning cardiac interatrial septation in mice using an advanced intercross line
46. Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine
47. Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning
48. Response to Li and Sun
49. Parents’ perceptions of genetics services for congenital heart disease: the role of demographic, clinical, and psychological factors in determining service attendance
50. Case report of a child bearing a novel deleterious splicing variant in PIGT
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