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21 results on '"Viskochil, Dave"'

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

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

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

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

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

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

7. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

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

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

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

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