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1. Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile

5. NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

6. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

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

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

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

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

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

12. Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group

13. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

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

15. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

16. De novo variants in DENND5B cause a neurodevelopmental disorder

17. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

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

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

20. Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a severe developmental disorder spectrum

21. Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

22. The impact of the Turkish population variome on the genomic architecture of rare disease traits

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

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

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

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

27. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

28. Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

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

30. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

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

32. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

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

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

36. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

37. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

38. The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

39. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract

40. Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy

41. Exome sequencing implicates ancestry-related Mendelian variation at SYNE1 in childhood-onset essential hypertension

42. Defining and Reducing Variant Classification Disparities

43. De novo variants in DENND5B cause a neurodevelopmental disorder

44. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

45. AHDC1 missense mutations in Xia-Gibbs syndrome

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

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

48. Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

49. IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

50. Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies

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