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1,052 results on '"Sinsheimer, Janet S."'

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1. Cross-tissue omics analysis discovers ten adipose genes encoding secreted proteins in obesity-related non-alcoholic fatty liver disease.

2. Multivariate genome-wide association analysis by iterative hard thresholding

3. WiSER: Robust and Scalable Estimation and Inference of Within-Subject Variances from Intensive Longitudinal Data

4. Immune system disruptions implicated in whole blood epigenome-wide association study of depression among Parkinson's disease patients

5. Human liver single nucleus and single cell RNA sequencing identify a hepatocellular carcinoma-associated cell-type affecting survival

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

7. Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

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

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

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

11. Computational tools for assessing gene therapy under branching process models of mutation

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

14. GWAS of longitudinal trajectories at biobank scale

15. De novo variants in DENND5B cause a neurodevelopmental disorder

16. A fast data-driven method for genotype imputation, phasing and local ancestry inference: MendelImpute.jl

17. Serum lipids are associated with nonalcoholic fatty liver disease: a pilot case-control study in Mexico

18. Modern simulation utilities for genetic analysis

19. Increased Menopausal Age Reduces the Risk of Parkinson's Disease: A Mendelian Randomization Approach

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

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

22. Identification of TBX15 as an adipose master trans regulator of abdominal obesity genes.

23. Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice.

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

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

26. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

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

28. OPENMENDEL: A Cooperative Programming Project for Statistical Genetics

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

30. Genetic risk scores and hallucinations in patients with Parkinson disease

31. A candidate gene study of intermediate histopathological phenotypes in HIV-associated neurocognitive disorders

32. Iterative hard thresholding in genome-wide association studies: Generalized linear models, prior weights, and double sparsity

33. Heritability of interpack aggression in a wild pedigreed population of North American grey wolves

34. Ordered multinomial regression for genetic association analysis of ordinal phenotypes at Biobank scale

35. Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

36. Understanding the Heterogeneity of Obesity and the Relationship to the Brain-Gut Axis

37. OpenMendel: a cooperative programming project for statistical genetics

38. Associations of regional amyloid-β plaque and phospho-tau pathology with biological factors and neuropsychological functioning among HIV-infected adults

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

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

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

42. BioSimulator.jl: Stochastic simulation in Julia

43. The Roles of Physical Activity and Inflammation in Mortality, Cognition, and Depressive Symptoms Among Older Mexican Americans

44. Reverse gene-environment interaction approach to identify variants influencing body-mass index in humans.

45. Genetic variants in nicotinic receptors and smoking cessation in Parkinson's disease

46. Iterative Hard Thresholding in GWAS: Generalized Linear Models, Prior Weights, and Double Sparsity

48. Systems Genetics Approach to Biomarker Discovery: GPNMB and Heart Failure in Mice and Humans.

49. Filtering nucleotide sites by phylogenetic signal to noise ratio increases confidence in the Neoaves phylogeny generated from ultraconserved elements

50. Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

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