Search

Your search keyword '"Macnamara, Ellen"' showing total 263 results

Search Constraints

Start Over You searched for: Author "Macnamara, Ellen" Remove constraint Author: "Macnamara, Ellen"
263 results on '"Macnamara, Ellen"'

Search Results

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

3. Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies

4. Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.

5. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

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

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

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

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

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

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 syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

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

16. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.

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

19. Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

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

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

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

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

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

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

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

28. Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.

29. KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

31. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

36. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

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

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

39. Loss of the endoplasmic reticulum protein Tmem208 affects cell polarity, development, and viability.

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

41. Macrocephaly and developmental delay caused by missense variants in RAB5C

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

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

49. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

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

Catalog

Books, media, physical & digital resources