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

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

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

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

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

7. Diagnosis and Treatment of Right Heart Failure in Pulmonary Vascular Diseases: A National Heart, Lung, and Blood Institute Workshop.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

27. Podcasting and Digital Video in the Classroom: A Call for Research

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

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

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

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

32. IRF2BPL Is Associated with Neurological Phenotypes

33. Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

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

35. MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome

36. List of Contributors

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

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

41. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma

42. Pulmonary Vascular Disease in Veterans with Post-Deployment Respiratory Syndrome

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

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

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