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147 results on '"Nickerson, Deborah A."'

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

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

3. The functional impact of rare variation across the regulatory cascade

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

5. Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma

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

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

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

9. Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

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

11. Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits

12. Novel biallelic variants affecting the OTU domain of the gene OTUD6B associate with severe intellectual disability syndrome and molecular dynamics simulations

13. Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

14. CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis

15. Centers for Mendelian Genomics: A decade of facilitating gene discovery

16. Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

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

18. Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program

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

20. Targeted long-read sequencing identifies missing disease-causing variation

21. Biallelic variants in MESD, which encodes a WNT-signaling related protein, in four new families with recessively inherited osteogenesis imperfecta

22. A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

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

24. Identifying Novel Susceptibility Genes for Colorectal Cancer Risk From a Transcriptome-Wide Association Study of 125,478 Subjects

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

26. TMEM218 dysfunction causes ciliopathies, including Joubert and Meckel syndromes

27. Exome-wide rare variant analysis in familial essential tremor

28. Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

29. Multiplexed Functional Assessment of Genetic Variants in CARD11

30. Response to Hall et al.

31. Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

32. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

33. Coagulation factor VIII: Relationship to cardiovascular disease risk and whole genome sequence and epigenome‐wide analysis in African Americans

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

35. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

36. The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy

37. Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma

38. Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study

40. Redefining the Etiologic Landscape of Cerebellar Malformations

41. Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

42. Insights into genetics, human biology and disease gleaned from family based genomic studies

43. The Extracellular RNA Communication Consortium: Establishing Foundational Knowledge and Technologies for Extracellular RNA Research

45. Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts

46. GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome

47. MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance

48. Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome

49. FUT2 Variants Confer Susceptibility to Familial Otitis Media

50. Genetic analysis of CHARGE syndrome identifies overlapping molecular biology

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