34 results on '"Hunter, Matthew F."'
Search Results
2. Integrated multi-omics for rapid rare disease diagnosis on a national scale
3. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
4. Developmental regression in children: Current and future directions
5. Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders
6. Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
7. Diagnostic findings and yield of investigations for children with developmental regression.
8. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
9. Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing
10. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
11. FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome
12. Intellectual functioning and behavioural features associated with mosaicism in fragile X syndrome
13. Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features
14. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
15. FOXP1 mutations cause intellectual disability and a recognizable phenotype
16. Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review
17. Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate
18. An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia
19. Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging
20. Rapid mitochondrial genome (MTDNA) sequencing: facilitating rapid diagnosis of mitochondrial diseases in paediatric acute care
21. Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency
22. Intragenic DNA methylation in buccal epithelial cells and intellectual functioning in a paediatric cohort of males with fragile X
23. Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asns splicing variant in a critically ill neonate
24. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
25. Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
26. An Activating Variant in CTNNB1is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia
27. THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
28. FOXP1mutations cause intellectual disability and a recognizable phenotype
29. Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
30. Alpers Syndrome With Mutations in POLG: Clinical and Investigative Features
31. Correction: Exome sequencing in infants with congenital hearing impairment: a population-based cohort study
32. Rapid exome sequencing and adjunct rna studies confirm pathogenicity of a novel homozygous asnssplicing variant in a critically ill neonate
33. A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
34. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.