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137 results on '"Horike-Pyne, Martha"'

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1. Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition

2. CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

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

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

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

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

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

10. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

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

20. Returning integrated genomic risk and clinical recommendations: The eMERGE study

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

22. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

23. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

24. Centers for Mendelian Genomics: A decade of facilitating gene discovery

25. Rare loss of function variants in candidate genes and risk of colorectal cancer

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

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

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

29. Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

30. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

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

33. De novo variants in DENND5B cause a neurodevelopmental disorder

34. Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

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

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

37. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

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

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

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

43. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

44. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

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

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

47. Returning integrated genomic risk and clinical recommendations: The eMERGE study

48. Assessment of a Peer Physician Coaching Partnership Between a Designated Cancer Center Genetics Service and a Community Cancer Network Hospital

49. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

50. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

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