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2. De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

4. Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS)

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

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

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

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

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

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

11. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

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

13. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

14. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

26. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy.

27. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

28. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

29. Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis

30. Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.

31. IgG4‐related disease: Association with a rare gene variant expressed in cytotoxic T cells

32. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

33. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variants

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

35. IRF2BPL Is Associated with Neurological Phenotypes

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

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

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

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

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

42. De novo variants in DENND5B cause a neurodevelopmental disorder

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

44. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

45. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

46. Extensive Phenotyping of Individuals at Risk for Familial Interstitial Pneumonia Reveals Clues to the Pathogenesis of Interstitial Lung Disease

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

48. Functional Prostacyclin Synthase Promoter Polymorphisms. Impact in Pulmonary Arterial Hypertension

49. Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant.

50. A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

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