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144 results on '"Hahn, Sihoun"'

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

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

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

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

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

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

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

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

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

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

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

12. Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

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

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

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

16. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

17. Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

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

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

21. Using a novel measuring device to objectively evaluate the clinical benefit on ptosis in infantile-onset Pompe disease (IOPD): Results from 145 weeks' avalglucosidase alfa dosing in Mini-COMET participants previously treated with alglucosidase alfa

22. Mini-COMET study: Safety and efficacy data after avalglucosidase alfa dosing for ≥ 145 weeks in participants with infantile-onset Pompe disease (IOPD) who had demonstrated clinical decline or sub-optimal response while receiving alglucosidase alfa

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

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

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

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

29. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities

30. Mini-COMET study: Effects of 97 weeks of avalglucosidase alfa dosing on ptosis in participants with infantile-onset Pompe disease who were previously treated with alglucosidase alfa

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

32. O01 Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial

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

34. Efficacy and safety of ALXN1840 versus standard of care in Wilson disease: primary results from an ongoing phase 3, randomized, controlled, rater-blinded trial

38. A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Hurler syndrome

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

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

43. 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)

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

48. Proteolytic Immuno-SRM Analysis of ATP7B in dried blood spots (DBS) for screening and diagnosis of Wilson Disease (WD)

50. Mini-COMET study: Safety, immunogenicity, and preliminary efficacy for repeat avalglucosidase alfa dosing in patients with infantile-onset Pompe disease (IOPD) who were previously treated with alglucosidase alfa and demonstrated clinical decline

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