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

2. Predicting the impact of rare variants on RNA splicing in CAGI6

3. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

4. Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

5. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

6. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

7. Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo

10. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

11. A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project

13. Recommendations for clinical interpretation of variants found in non-coding regions of the genome

14. Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

15. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study

16. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

17. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

22. A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

23. Reduced penetrance of gene variants causing amyotrophic lateral sclerosis.

25. Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

26. Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

28. Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

30. Predicting the impact of rare variants on RNA splicing in CAGI6

31. A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency

32. Extending the phenotypes associated with TRIO gene variants in a cohort of 25 patients and review of the literature

34. Molecular pathology of neurofibromatosis type 1 (NF1)

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

37. A palindrome-like structure on 16p13.3 is associated with the formation of complex structural variations and SRRM3 haploinsufficiency

38. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

39. Response to Ramos et al

40. Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

41. Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood

42. PhenoScore: AI-based phenomics to quantify rare disease and genetic variation

43. Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19

44. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

46. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

47. A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

48. Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype

50. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

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