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

3. Beyond the exome: what's next in diagnostic testing for Mendelian conditions

4. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

5. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

6. Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

7. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

8. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

9. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder

10. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

11. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

12. De novo variants in DENND5B cause a neurodevelopmental disorder

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

14. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

15. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

16. Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

17. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis

18. Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care

19. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

20. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

21. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

23. De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features

24. Bi-allelic variants in INTS11 are associated with a complex neurological disorder

25. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts.

26. A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing

27. Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

28. Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy

29. De novo variants in DENND5B cause a neurodevelopmental disorder

30. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

31. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

32. The genetic architecture of Plakophilin 2 cardiomyopathy

34. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

35. A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

36. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

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

39. Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

40. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

41. Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

42. HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder

43. De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling

45. A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

46. PO-04-124 ARRHYTHMIAS INCLUDING ATRIAL FIBRILLATION IN KLEEFSTRA SYNDROME: A POSSIBLE EPIGENETIC LINK

48. Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.

50. P150: ClinGen hereditary cardiovascular disease gene curation expert panel: reappraisal of the validity of hypertrophic cardiomyopathy genes*

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