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1. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

2. A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes

3. Author Correction: Analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases

5. Identification of constrained sequence elements across 239 primate genomes

7. Contribution of common and rare variants to Asian neovascular age-related macular degeneration subtypes

8. The Singapore National Precision Medicine Strategy

9. Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 that Are Common in Chinese Patients

12. Clinical free text to HPO codes

14. Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.

15. Ligand-mediated PAI-1 inhibition in a mouse model of peritoneal carcinomatosis

16. Analysis of clinically relevant variants from ancestrally diverse Asian genomes

17. Identification of constrained sequence elements across 239 primate genomes

18. Identification of constrained sequence elements across 239 primate genomes

20. Loss-of-function SMPD1 gene variant in Progressive Supranuclear Palsy-Richardson Syndrome patients of Chinese ancestry

21. Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population

24. Data Mining of Electronic Health Records to Identify Undiagnosed Patients with Rare Genetic Diseases

25. A novel intronic variant in ROBO3 associated with horizontal gaze palsy with progressive scoliosis: case report and literature review

26. NOTCH2NLC trinucleotide interruptions are associated with cognitive impairment in neuronal intranuclear inclusion disease (NIID)

27. Identification of constrained sequence elements across 239 primate genomes

29. Figure 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

30. Figure 3 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

31. Figure 6 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

32. Table S2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

33. Data from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

34. Figure 4 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

35. Supplementary Methods 1 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

36. Figure 2 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

37. Figure 5 from ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

38. An Optimised Protocol Harnessing Laser Capture Microdissection for Transcriptomic Analysis on Matched Primary and Metastatic Colorectal Tumours

39. Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

40. A global catalog of whole-genome diversity from 233 primate species

41. The landscape of tolerated genetic variation in humans and primates

42. A global catalog of whole-genome diversity from 233 primate species

43. Supplementary Figures 1-6 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

44. Supplementary Table 5 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

45. Supplementary Methods and Supplementary Figure and Table Legends from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

46. Supplementary Table 4 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

47. Supplementary Table 2 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

48. Supplementary Table 1 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

49. Supplementary Table 3 from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

50. Data from Whole-Genome and Epigenomic Landscapes of Etiologically Distinct Subtypes of Cholangiocarcinoma

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