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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. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

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

8. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

16. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

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

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

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

20. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

21. Defining the phenotypic spectrum of SLC6A1 mutations

22. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

25. Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

26. RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes

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

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

29. Expansion of phenotype and genotypic data in CRB2-related syndrome

30. Loss of TNR causes a nonprogressive neurodevelopmental disorder with spasticity and transient opisthotonus

31. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female

32. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

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

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

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

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

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

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

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

41. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

42. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

43. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

44. Ade novomissense variant inEZH1associated with developmental delay exhibits functional deficits inDrosophila melanogaster

45. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2

46. The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

47. Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

50. Contributors

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