Search

Your search keyword '"Szelinger S"' showing total 91 results

Search Constraints

Start Over You searched for: Author "Szelinger S" Remove constraint Author: "Szelinger S"
91 results on '"Szelinger S"'

Search Results

3. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

4. Singleton deletions throughout the genome increase risk of bipolar disorder

5. Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

6. Improving genetic prediction by leveraging genetic correlations among human diseases and traits

7. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

8. A de novo splice site mutation inCASKcauses FG syndrome-4 and congenital nystagmus

9. Rare variants in neuronal excitability genes influence risk for bipolar disorder

10. All SNPs are not created equal: genome-wide association studies reveal a consistent pattern of enrichment among functionally annotated SNPs

11. Identification of risk loci with shared effects on five major psychiatric disorders:a genome-wide analysis

12. Identification of pathways for bipolar disorder: A meta-analysis

13. Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing

14. A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

15. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

16. Singleton deletions throughout the genome increase risk of bipolar disorder

18. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder.

19. Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

20. The Genetics of the Mood Disorder Spectrum: Genome-wide Association Analyses of More Than 185,000 Cases and 439,000 Controls

21. Whole-genome analysis of sporadic amyotrophic lateral sclerosis.

22. Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

23. Genome-wide association study identifies 30 loci associated with bipolar disorder

24. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

25. Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder

26. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

27. Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

28. Implementation, Evolution, and Laboratory Performance of Methods-Based Proficiency Testing for Next-Generation Sequencing Detection of Germline Sequence Variants.

29. FGF12 copy number variant associated with epileptic encephalopathy.

30. Preparing for the unexpected: Recommendations for returning secondary findings in late-stage cancer care.

31. Underreporting of SMARCB1 alteration by clinical sequencing: Integrative patho-genomic analysis captured SMARCB1 /INI-1 deficiency in a vulvar yolk sac tumor.

32. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders.

33. A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.

34. Comprehensive Genomic Profiling of High-Risk Pediatric Cancer Patients Has a Measurable Impact on Clinical Care.

35. Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.

37. Genomic and Transcriptomic Analysis of Relapsed and Refractory Childhood Solid Tumors Reveals a Diverse Molecular Landscape and Mechanisms of Immune Evasion.

38. Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra ® .

39. Ntrk1 mutation co-segregating with bipolar disorder and inherited kidney disease in a multiplex family causes defects in neuronal growth and depression-like behavior in mice.

40. Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1 .

41. Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.

42. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

43. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

45. Genome-wide association study identifies 30 loci associated with bipolar disorder.

46. Chronotype and cellular circadian rhythms predict the clinical response to lithium maintenance treatment in patients with bipolar disorder.

47. Efficient region-based test strategy uncovers genetic risk factors for functional outcome in bipolar disorder.

48. Detecting significant genotype-phenotype association rules in bipolar disorder: market research meets complex genetics.

49. A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome.

50. A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.

Catalog

Books, media, physical & digital resources