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1. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

2. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

3. Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

4. RNA variant assessment using transactivation and transdifferentiation

6. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

7. De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues

8. Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

9. Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

10. Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428

11. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

12. Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

13. Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis

14. Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

15. A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis

16. The Healthcare and Societal Costs of Familial Intellectual Disability

19. De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome

21. Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

25. Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re‐classification of an ARID1B missense variant

26. Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration

27. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder

28. Improved Diagnosis and Care for Rare Diseases through Implementation of Precision Public Health Framework

32. A genome-wide association study identifies susceptibility loci for nonsyndromic sagittal craniosynostosis near BMP2 and within BBS9

33. De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

35. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

36. Germline AGO2 mutations impair RNA interference and human neurological development

37. Biallelic variants inTUBGCP6result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review

38. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare

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. De novo variants in the RNU4-2snRNA cause a frequent neurodevelopmental syndrome

41. A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

43. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

44. Identification of Regulatory Molecular "Hot Spots" for LH/PLOD Collagen Glycosyltransferase Activity.

45. Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.

46. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation

47. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

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