593 results on '"White, Susan M."'
Search Results
2. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
3. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless
4. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
5. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
6. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
7. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
8. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort
9. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
10. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
11. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
12. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
13. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
14. A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease
15. Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children
16. Genome Sequencing for Diagnosing Rare Diseases
17. Aberrant splicing and transcriptional activity of TPP1 result in CLN2-like disorder
18. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
19. Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
20. Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
21. DOORS syndrome and a recurrent truncating ATP6V1B2 variant
22. Clinical impact of genomic testing in patients with suspected monogenic kidney disease
23. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients
24. Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
25. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
26. Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
27. Long-term economic impacts of exome sequencing for suspected monogenic disorders: diagnosis, management, and reproductive outcomes
28. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
29. Does genomic sequencing early in the diagnostic trajectory make a difference? A follow-up study of clinical outcomes and cost-effectiveness
30. Report of a bi-allelic truncating germline mutation in TP53
31. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7)
32. Small-molecule functional rescue of PIEZO1 channel variants associated with generalised lymphatic dysplasia
33. Missense variant contribution to USP9X-female syndrome
34. Biological Dosimetry for Epithermal Neutron Beams
35. Erythromelalgia caused by the missense mutation p.Arg220Pro in an alternatively spliced exon of SCN9A (NaV1.7).
36. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System
37. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders
38. De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome
39. Progressive Lung Injury and Pulmonary Hypertension from Monocrotaline
40. Isolated proteinuria due to CUBN homozygous mutation – challenging the investigative paradigm
41. A cryptic pathogenicNDUFV1variant identified by RNA ‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes
42. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences
43. Response to Ferket et al.
44. Recent Developments in Earthquake Hazards Studies
45. Maternal inheritance of BDNF deletion, with phenotype of obesity and developmental delay in mother and child
46. BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes
47. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
48. Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays
49. Toward numerical simulations of fluid–structure interactions for investigation of obstructive sleep apnea
50. Elements of morphology: Standard terminology for the trunk and limbs
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