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

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

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

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

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

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

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

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

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

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

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

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

25. SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblasts.

26. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

34. A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders

35. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

37. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features

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

45. P003: Clinical laboratory experience of frataxin quantification in blood for the diagnosis of Friedreich ataxia*

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

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

50. Human Genetic Disorders

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