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351 results on '"Leppig, Kathleen A."'

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2. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

3. Prospective, multi-site study of healthcare utilization after actionable monogenic findings from clinical sequencing

5. Returning integrated genomic risk and clinical recommendations: The eMERGE study

8. The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network

9. Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates

11. Neptune: an environment for the delivery of genomic medicine

13. DLG4-related synaptopathy: a new rare brain disorder

14. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

15. Participant choices for return of genomic results in the eMERGE Network

17. Frequency of genomic secondary findings among 21,915 eMERGE network participants

18. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

19. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

20. Developmental epileptic encephalopathy in DLG4-related synaptopathy

22. Actionable exomic incidental findings in 6503 participants: challenges of variant classification

23. Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

24. Redefining the Etiologic Landscape of Cerebellar Malformations

25. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

26. Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

27. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

28. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

30. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

32. Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition

33. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome

35. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs

36. Abstract 14663: High Rate of Arrhythmia Diagnoses Following Return of Pathogenic/likely Pathogenic Variants in an Unselected Population

38. Improving performance of multigene panels for genomic analysis of cancer predisposition

39. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

40. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

41. A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR

42. Returning integrated genomic risk and clinical recommendations: The eMERGE study

43. Genetic Predictors of Blood Pressure Traits are Associated with Preeclampsia

44. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

45. Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A

46. A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia

50. P068: Feasibility and initial participation in traceback cascade screening programs for ovarian cancer implemented at three integrated health systems

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