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J David Brook

Showing results (31-40 of 45) with videos related to

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NPJ Genomic Medicine|June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome studyEnrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Science Translational Medicine|May 1, 2020
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse modelAmi Ketley, Marzena Wojciechowska, Sonja Ghidelli-Disse, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Genome Medicine|January 8, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defectsGregor Dombrowsky, Liselot van der Laan, Ananília Silva, et al.
Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 5

Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
NPJ Genomic Medicine|June 2, 2026
Assessing the contribution of rare variants to congenital heart disease through a large-scale case-control exome studyEnrique Audain, Anna Wilsdon, Gregor Dombrowsky, et al.
Science Translational Medicine|May 1, 2020
CDK12 inhibition reduces abnormalities in cells from patients with myotonic dystrophy and in a mouse modelAmi Ketley, Marzena Wojciechowska, Sonja Ghidelli-Disse, et al.
Human Molecular Genetics|December 27, 2011
Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controlsRachel Soemedi, Ana Topf, Ian J Wilson, et al.
American Journal of Human Genetics|September 4, 2012
Contribution of global rare copy-number variants to the risk of sporadic congenital heart diseaseRachel Soemedi, Ian J Wilson, Jamie Bentham, et al.
Genome Medicine|January 8, 2026
DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defectsGregor Dombrowsky, Liselot van der Laan, Ananília Silva, et al.
Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.
Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.
American Journal of Human Genetics|September 2, 2017
Rare Variants in NR2F2 Cause Congenital Heart Defects in HumansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.
American Journal of Human Genetics|April 8, 2014
Rare variants in NR2F2 cause congenital heart defects in humansSaeed Al Turki, Ashok K Manickaraj, Catherine L Mercer, et al.
Pageof 5