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184 results on '"Rodan, Lance H."'

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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

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

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

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

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

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

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

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

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

28. Defining the phenotypic spectrum of SLC6A1 mutations

30. CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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

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

36. 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)

37. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.

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

40. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

41. Correction to: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (Nature Communications, (2018), 9, 1, (4619), 10.1038/s41467-018-06014-6)

42. CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

44. Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

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

46. Homozygous deletion of 21q22.2 in a patient with hypotonia, developmental delay, cortical visual impairment, and retinopathy.

47. Polymicrogyria is Associated With Pathogenic Variants in PTEN.

48. L-arginine effects on cerebrovascular reactivity, perfusion and neurovascular coupling in MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) syndrome.

49. Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.

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