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132 results on '"Glessner JT"'

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1. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

2. High rate of disease-related copy number variations in childhood onset schizophrenia

3. A first update on mapping the human genetic architecture of COVID-19

4. ADHD & Pharmacotherapy: Past, Present and Future: A Review of the Changing Landscape of Drug Therapy for Attention Deficit Hyperactivity Disorder

5. Erratum: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height ((The American Journal of Human Genetics (2010) 88 (6-18))

6. Erratum: Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci (American Journal of Human Genetics (2012) 90 (410-425))

8. Common variations in BARD1 influence susceptibility to high-risk neuroblastoma

9. Individual common variants exert weak effects on the risk for autism spectrum disorderspi

10. A genome-wide scan for common alleles affecting risk for autism

11. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

12. Revealing novel genomic insights and therapeutic targets for juvenile idiopathic arthritis through omics.

13. Identification of genetic variants associated with clinical features of sickle cell disease.

14. Mitochondrial DNA Haplogroup K Is Protective Against Autism Spectrum Disorder Risk in Populations of European Ancestry.

15. Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders.

16. Multi-ancestry Genome-Wide Association Meta-Analysis Identifies Novel Loci in Atopic Dermatitis.

17. Target genes regulated by CLEC16A intronic region associated with common variable immunodeficiency.

18. Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes.

19. The copy number variant architecture of psychopathology and cognitive development in the ABCD ® study.

20. High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.

21. KOLF2.1J iPSCs carry CNVs associated with neurodevelopmental disorders.

22. Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations.

23. Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes.

24. Biliary atresia is associated with polygenic susceptibility in ciliogenesis and planar polarity effector genes.

25. The Circassians and the Chechens in Jordan: results of a decade of epidemiological and genetic studies.

26. Trans-ethnic genomic informed risk assessment for Alzheimer's disease: An International Hundred K+ Cohorts Consortium study.

27. The molecular genetic landscape of human brain size variation.

28. Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.

29. Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders.

30. Genomic Disorders in CKD across the Lifespan.

31. ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies.

32. Single Cell Transcriptome Analysis of Peripheral Blood Mononuclear Cells in Freshly Isolated versus Stored Blood Samples.

33. COVID-19 in pediatrics: Genetic susceptibility.

34. A cross-disorder dosage sensitivity map of the human genome.

35. Identification of Novel Loci Shared by Juvenile Idiopathic Arthritis Subtypes Through Integrative Genetic Analysis.

36. An electronic health record (EHR) phenotype algorithm to identify patients with attention deficit hyperactivity disorders (ADHD) and psychiatric comorbidities.

37. DeepCNV: a deep learning approach for authenticating copy number variations.

38. Discovery of Novel Host Molecular Factors Underlying HBV/HCV Infection.

39. Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.

40. Association Between a Common, Benign Genotype and Unnecessary Bone Marrow Biopsies Among African American Patients.

41. Genome-Wide Detection of Copy Number Variations and Their Association With Distinct Phenotypes in the World's Sheep.

42. Association of novel rare coding variants with juvenile idiopathic arthritis.

43. MONTAGE: a new tool for high-throughput detection of mosaic copy number variation.

44. Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders.

45. Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score.

46. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.

47. CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.

48. An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.

49. Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.

50. Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

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