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2. Deep Phenotyping of Non-Alcoholic Fatty Liver Disease Patients with Genetic Factors for Insights into the Complex Disease

3. Diagnostic yield of exome and genome sequencing after non-diagnostic multi-gene panels in patients with single-system diseases

4. Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

6. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

7. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data

8. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

10. Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations

11. Universally Rank Consistent Ordinal Regression in Neural Networks

12. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

13. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

14. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

15. Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

16. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency

17. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.

18. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

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

21. List of contributors

22. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

23. Clonal dynamics of Richter transformation in chronic lymphocytic leukemia

24. The expanding clinical and genetic spectrum of DYNC1H1-related disorders

26. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

28. Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

29. De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

30. Unified somatic calling and machine learning-based classification enhance the discovery of clonal hematopoiesis of indeterminate potential

31. MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

32. OmicsFootPrint: a framework to integrate and interpret multi-omics data using circular images and deep neural networks

33. Genomics Integration Into Nephrology Practice

34. One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

35. Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

36. Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics

37. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

38. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

39. Impact of integrated translational research on clinical exome sequencing

40. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism

42. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

44. Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome

45. Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

46. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

49. Design considerations for workflow management systems use in production genomics research and the clinic

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