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38 results on '"Matthew T Oetjens"'

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1. Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients.

2. A genome-first study of sex chromosome aneuploidies provides evidence of Y chromosome dosage effects on autism risk

3. An evolutionary genomic approach to identify genes involved in human birth timing.

4. Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening

5. Analysis of the canid Y-chromosome phylogeny using short-read sequencing data reveals the presence of distinct haplogroups among Neolithic European dogs

6. Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population

7. Response to van Riel et al

8. Frequency of Truncating FLCN Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

9. Population stratification in the context of diverse epidemiologic surveys sans genome-wide data

10. Abstract 068: Investigation Of Familial Hypercholesterolemia Subtypes In The UK Biobank

11. Frequency of FLCN Loss of Function Variants and Birt-Hogg-Dubé-Associated Phenotypes in a Healthcare System Population

12. Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants

13. Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism

14. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders

15. Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis

16. Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses

17. Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

18. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

19. Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project

20. Comprehensive identification of somatic nucleotide variants in human brain tissue

21. Y-Chromosome Structural Diversity in the Bonobo and Chimpanzee Lineages

22. Unravelling the human genome–phenome relationship using phenome-wide association studies

23. Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population

24. Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

25. Analysis of the canid Y-chromosome phylogeny using short-read sequencing data reveals the presence of distinct haplogroups among Neolithic European dogs

26. Ancient European dog genomes reveal continuity since the Early Neolithic

27. Association of the FTO Obesity Risk Variant rs8050136 With Percentage of Energy Intake From Fat in Multiple Racial/Ethnic Populations

28. Assessment of a pharmacogenomic marker panel in a polypharmacy population identified from electronic medical records

29. Evidence for extensive pleiotropy among pharmacogenes

30. Population Stratification in the Context of Diverse Epidemiologic Surveys Sans Genome-Wide Data

31. Helitrons: Enigmatic abductors and mobilizers of host genome sequences

32. Genetic Effects on the Correlation Structure of CVD Risk Factors: Exome-Wide Data From a Ghanaian Population

33. UTILIZATION OF AN EMR-BIOREPOSITORY TO IDENTIFY THE GENETIC PREDICTORS OF CALCINEURIN-INHIBITOR TOXICITY IN HEART TRANSPLANT RECIPIENTS

34. Association of the FTO obesity risk variant rs8050136 with percentage of energy intake from fat in multiple racial/ethnic populations: the PAGE study

35. Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study

36. Predicting warfarin dosage in European-Americans and African-Americans using DNA samples linked to an electronic health record

37. An evolutionary genomic approach to identify genes involved in human birth timing

38. Comprehensive identification of somatic nucleotide variants in human brain tissue

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