922 results on '"Chitty, Lyn S."'
Search Results
2. Knowledge, attitudes and decision regret: a longitudinal survey study of participants offered genome sequencing in the 100,000 Genomes Project
3. Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals
4. Developing and Delivering a Clinical Service for the Non-invasive Prenatal Diagnosis of Monogenic Conditions
5. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study
6. Should we offer prenatal exome sequencing for intrauterine growth restriction or short long bones? A systematic review and meta-analysis
7. Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals’ views and experiences
8. An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol
9. Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study
10. Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study
11. Expanding Access to Noninvasive Prenatal Diagnosis for Monogenic Conditions to Consanguineous Families
12. ‘Something that helped the whole picture’: Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service
13. Monogenic conditions and central nervous system anomalies:A prospective study, systematic review and meta-analysis
14. Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project
15. New ventures for Prenatal Diagnosis
16. Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
17. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use
18. Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges
19. Parents’ motivations, concerns and understanding of genome sequencing: a qualitative interview study
20. Update on the use of exome sequencing in the diagnosis of fetal abnormalities
21. Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
22. Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
23. Noninvasive Prenatal Diagnosis for Single-Gene Disorders
24. Diagnosis and Management of Fetal Skeletal Abnormalities
25. List of Contributors
26. Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing
27. Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta
28. Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study
29. Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
30. Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies
31. The Role of Sonographic Phenotyping in Delivering an Efficient Noninvasive Prenatal Diagnosis Service for FGFR3-Related Skeletal Dysplasias
32. Implementing Non-Invasive Prenatal Diagnosis (NIPD) in a National Health Service Laboratory; From Dominant to Recessive Disorders
33. Is Traditional Perinatal Autopsy Needed After Detailed Fetal Ultrasound and Postmortem MRI?
34. Societal Aspects: Ethics
35. Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches
36. Time and travel costs incurred by women attending antenatal tests: A costing study
37. Benefits for children with suspected cancer from routine whole-genome sequencing
38. Prenatal Exome Sequencing Analysis in Fetal Structural Anomalies Detected by Ultrasonography (PAGE): A Cohort Study
39. Rapid Prenatal Diagnosis Using Targeted Exome Sequencing: A Cohort Study to Assess Feasibility and Potential Impact on Prenatal Counseling and Pregnancy Management
40. Diagnostic accuracy of post mortem MRI for abdominal abnormalities in foetuses and children
41. Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally
42. Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis
43. Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders
44. Realising the promise of non-invasive prenatal testing
45. Optimising Exome Prenatal Sequencing Services (EXPRESS): a study protocol to evaluate rapid prenatal exome sequencing in the NHS Genomic Medicine Service [version 2; peer review: 2 approved]
46. Non-invasive prenatal testing for Down syndrome
47. Has Noninvasive Prenatal Testing Impacted Termination of Pregnancy and Live Birth Rates of Infants With Down Syndrome?
48. Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation : population based cohort study
49. In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017
50. Promises, pitfalls and practicalities of prenatal whole exome sequencing
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