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1. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease

2. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.: Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

3. Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations

5. Cyclin-dependent kinase 13 is indispensable for normal mouse heart development.

6. Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

8. Differential fates of introns in gene expression due to global alternative splicing.

9. Disrupting the Molecular Pathway in Myotonic Dystrophy.

10. Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

11. Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

12. Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease.

13. CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse model.

14. HDAC4 and 5 repression of TBX5 is relieved by protein kinase D1.

15. Global Increase in Circular RNA Levels in Myotonic Dystrophy.

16. Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.

17. Small Molecules Which Improve Pathogenesis of Myotonic Dystrophy Type 1.

18. Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

19. Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development.

20. Recent advances in congenital heart disease genomics.

21. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

22. Body composition and clinical outcome measures in patients with myotonic dystrophy type 1.

23. T-Box Genes in Human Development and Disease.

24. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

25. A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

26. Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.

27. Rare variants in NR2F2 cause congenital heart defects in humans.

28. High-content screening identifies small molecules that remove nuclear foci, affect MBNL distribution and CELF1 protein levels via a PKC-independent pathway in myotonic dystrophy cell lines.

29. Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controls.

30. Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16.

31. Low-frequency intermediate penetrance variants in the ROCK1 gene predispose to Tetralogy of Fallot.

32. The miR-30 microRNA family targets smoothened to regulate hedgehog signalling in zebrafish early muscle development.

33. Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

34. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.

35. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.

36. Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

37. The impact of mechanical forces in heart morphogenesis.

38. Formation, contraction, and mechanotransduction of myofribrils in cardiac development: clues from genetics.

39. Expanded CUG repeats Dysregulate RNA splicing by altering the stoichiometry of the muscleblind 1 complex.

40. Zebrafish deficient for Muscleblind-like 2 exhibit features of myotonic dystrophy.

41. Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.

42. Physical interaction between TBX5 and MEF2C is required for early heart development.

43. Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle.

44. Genetic variation in VEGF does not contribute significantly to the risk of congenital cardiovascular malformation.

45. Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles.

46. Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

47. Mutation in myosin heavy chain 6 causes atrial septal defect.

48. T-box genes in human disorders.

49. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells.

50. Detection of a large TBX5 deletion in a family with Holt-Oram syndrome.

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