450 results on '"Lynch, Sally-Ann"'
Search Results
2. Advancing diagnosis and research for rare genetic diseases in Indigenous peoples
3. The cost of rejection: an internal audit of the clinical genetics service active triage pathway at CHI Crumlin, Ireland
4. Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee
5. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
6. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling
7. ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
8. Duplication of referral, a tsunami of paper: how much does it cost the Irish health services?
9. An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature
10. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes
11. Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
12. 'Werner Syndrome foot'—A case series of four Irish Traveller siblings with Werner Syndrome, diabetes mellitus and complex foot disease.
13. Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?
14. Fatal fetal abnormality Irish live-born survival—an observational study
15. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
16. The genetic landscape of polycystic kidney disease in Ireland
17. Dying to see you? Deaths on a clinical genetics waiting list in the Republic of Ireland; what are the consequences?
18. Large-scale evaluation of outcomes following a genetic diagnosis in children with severe developmental disorders
19. National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years
20. Quantifying the contribution of recessive coding variation to developmental disorders
21. A clinical scoring system for congenital contractural arachnodactyly
22. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
23. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
24. A novel report of a fertile female with partial Y chromosome gain completing a healthy pregnancy
25. Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation
26. A perinatal approach to genetic disorders in Irish Travellers: A review
27. Managing uncertainty in inherited cardiac pathologies—an international multidisciplinary survey
28. Towards establishing consistency in triage in a tertiary specialty
29. Heterozygous loss-of-function variants of MEIS2 cause a triad of palatal defects, congenital heart defects, and intellectual disability
30. A retrospective review of the contribution of rare diseases to paediatric mortality in Ireland
31. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
32. Leaving no one behind: Cerebral palsy in indigenous populations
33. Triplications of chromosome 1p36.3, including the genes GABRD and SKI , are associated with a developmental disorder and a facial gestalt
34. ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling
35. Friedreich Ataxia in Classical Galactosaemia
36. Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?
37. Expansion of the neurodevelopmental phenotype of individuals with EEF1A2variants and genotype-phenotype study
38. The contribution of 7q33 copy number variations for intellectual disability
39. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
40. A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly
41. Use of tissue samples in diagnosing diploid triploid mosaicism
42. Unilateral microtia found in association with a de-novo 20q13.33 deletion, is there a causal link?
43. A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca2+ signal patterns
44. Expanding the clinical spectrum of chromosome 15q26 terminal deletions associated with IGF-1 resistance
45. Congenital imprinting disorders
46. Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
47. Whole genome sequencing of ‘mutation-negative’ individuals with Cornelia de Lange Syndrome
48. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
49. Predictive Genetic Testing and Alternatives to Face to Face Results Disclosure: A Retrospective Review of Patients Preference for Alternative Modes of BRCA 1 and 2 Results Disclosure in the Republic of Ireland
50. Wide disparity of clinical genetics services and EU rare disease research funding across Europe
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