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316 results on '"Butte, Manish J."'

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1. Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

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

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

6. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

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

8. Lack of association between classical HLA genes and asymptomatic SARS-CoV-2 infection

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

11. Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

12. De novo variants in DENND5B cause a neurodevelopmental disorder

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

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

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

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

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

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

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

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

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

25. Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells

26. Author Correction: Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

27. Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative

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

30. Pre-existing conditions in Hispanics/Latinxs that are COVID-19 risk factors

31. Massively scaled-up testing for SARS-CoV-2 RNA via next-generation sequencing of pooled and barcoded nasal and saliva samples

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

36. Infections in Infants with SCID: Isolation, Infection Screening, and Prophylaxis in PIDTC Centers

39. Progressive B Cell Loss in Revertant X-SCID

43. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

44. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

45. Correction to: Infections in Infants with SCID: Isolation, Infection Screening and Prophylaxis in PIDTC Centers

47. Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.

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