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1. Lysosomal genes contribute to Parkinson’s disease near agriculture with high intensity pesticide use

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

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

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

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

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

8. Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates

11. Toward a biomarker panel measured in CNS-originating extracellular vesicles for improved differential diagnosis of Parkinson’s disease and multiple system atrophy

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

13. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

17. Correction to: α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy

18. α-Synuclein in blood exosomes immunoprecipitated using neuronal and oligodendroglial markers distinguishes Parkinson’s disease from multiple system atrophy

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

20. miR-142-3p regulates cortical oligodendrocyte gene co-expression networks associated with tauopathy

21. Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts

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

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

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

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

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

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

29. Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing

30. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

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

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

34. Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

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

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

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

39. Primary brain calcification: an international study reporting novel variants and associated phenotypes.

40. IRF2BPL Is Associated with Neurological Phenotypes

41. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

45. Prevalence of spinocerebellar ataxia 36 in a US population

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

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

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