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

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

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

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

5. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

17. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

27. 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

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

32. Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

35. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

36. One is the loneliest number: genotypic matchmaking using the electronic health record

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

38. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)

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

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

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

42. Are 'accidental' gun deaths as rare as they seem? A comparison of medical examiner manner of death coding with an intent-based classification approach

43. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

44. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

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

46. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

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

48. Loss-of-function in RBBP5results in a syndromic neurodevelopmental disorder associated with microcephaly

49. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

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