Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease von Soemedi, Rachel, Wilson, Ian J., Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M., Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J., Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O’ Sullivan, John, Winlaw, David S., Bu’Lock, Frances, Brook, J. David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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Hereditary cancer genes are highly susceptible to splicing mutations von Rhine, Christy L, Cygan, Kamil J, Soemedi, Rachel, Maguire, Samantha, Murray, Michael F, Monaghan, Sean F, Fairbrother, William G

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Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy von Ceyhan-Birsoy, Ozge, Agrawal, Pankaj B., Hidalgo, Carlos, Schmitz-Abe, Klaus, DeChene, Elizabeth T., Swanson, Lindsay C., Soemedi, Rachel, Vasli, Nasim, Iannaccone, Susan T., Shieh, Perry B., Shur, Natasha, Dennison, Jane M., Lawlor, Michael W., Laporte, Jocelyn, Markianos, Kyriacos, Fairbrother, William G., Granzier, Henk, Beggs, Alan H.

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The debranching enzyme Dbr1 regulates lariat turnover and intron splicing von Buerer, Luke, Clark, Nathaniel E., Welch, Anastasia, Duan, Chaorui, Taggart, Allison J., Townley, Brittany A., Wang, Jing, Soemedi, Rachel, Rong, Stephen, Lin, Chien-Ling, Zeng, Yi, Katolik, Adam, Staley, Jonathan P., Damha, Masad J., Mosammaparast, Nima, Fairbrother, William G.

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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls von Soemedi, Rachel, Topf, Ana, Wilson, Ian J., Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bu'Lock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M., Winlaw, David S., Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J., Goodship, Judith A., Keavney, Bernard D.

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Functionally significant, rare transcription factor variants in tetralogy of Fallot von Töpf, Ana, Griffin, Helen R, Glen, Elise, Soemedi, Rachel, Brown, Danielle L, Hall, Darroch, Rahman, Thahira J, Eloranta, Jyrki J, Jüngst, Christoph, Stuart, A Graham, O'Sullivan, John, Keavney, Bernard D, Goodship, Judith A

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Programmed Death Ligand 1 (PD-L1) Gene Variants Contribute to Autoimmune Addison’s Disease and Graves’ Disease Susceptibility von Mitchell, Anna L., Cordell, Heather J., Soemedi, Rachel, Owen, Kate, Skinningsrud, Beate, Wolff, Anette Bøe, Ericksen, Martina, Undlien, Dag, Husebye, Eystein, Pearce, Simon H. S.

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Pathogenic variants that alter protein code often disrupt splicing von Soemedi, Rachel, Cygan, Kamil J, Rhine, Christy L, Wang, Jing, Bulacan, Charlston, Yang, John, Bayrak-Toydemir, Pinar, McDonald, Jamie, Fairbrother, William G

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The effects of structure on pre-mRNA processing and stability von Soemedi, Rachel, Cygan, Kamil J., Rhine, Christy L., Glidden, David T., Taggart, Allison J., Lin, Chien-Ling, Fredericks, Alger M., Fairbrother, William G.

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Association of Mitochondrial DNA Copy Number With Brain MRI Markers and Cognitive Function: A Meta-analysis of Community-Based Cohorts von Zhang, Yuankai, Liu, Xue, Wiggins, Kerri L., Kurniansyah, Nuzulul, Guo, Xiuqing, Rodrigue, Amanda L, Zhao, Wei, Yanek, Lisa R, Ratliff, Scott M., Pitsillides, Achilleas, Aguirre Patiño, Juan Sebastian, Sofer, Tamar, Arking, Dan E., Austin, Thomas R., Beiser, Alexa S., Blangero, John, Boerwinkle, Eric, Bressler, Jan, Curran, Joanne E., Hou, Lifang, Hughes, Timothy M., Kardia, Sharon L, Launer, Lenore, Levy, Daniel, Mosley, Tom H., Nasrallah, Ilya M., Rich, Stephen S., Rotter, Jerome I., Seshadri, Sudha, Tarraf, Wassim, González, Kevin A., Ramachandran, Vasan, Yaffe, Kristine, Nyquist, Paul A, Psaty, Bruce M, DeCarli, Charles S., Smith, Jennifer A, Glahn, David C, González, Hector M, Bis, Joshua C, Fornage, Myriam, Heckbert, Susan R., Fitzpatrick, Annette L., Liu, Chunyu, Satizabal, Claudia L.

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Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot von Cordell, Heather J, Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V, Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J, Ayers, Kristin L, Rahman, Thahira J, Hall, Darroch, Mulder, Barbara J M, Zwinderman, Aelko H, van Engelen, Klaartje, Brook, J David, Setchfield, Kerry, Bu'Lock, Frances A, Thornborough, Chris, O'Sullivan, John, Stuart, A Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Moorman, Antoon F M, Rauch, Anita, Lathrop, G Mark, Keavney, Bernard D, Goodship, Judith A

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Upregulated heme biosynthesis increases obstructive sleep apnea severity: a pathway-based Mendelian randomization study von Wang, Heming, Kurniansyah, Nuzulul, Cade, Brian E., Goodman, Matthew O., Chen, Han, Gottlieb, Daniel J., Gharib, Sina A., Purcell, Shaun M., Lin, Xihong, Saxena, Richa, Zhu, Xiaofeng, Durda, Peter, Tracy, Russel, Liu, Yongmei, Taylor, Kent D., Johnson, W. Craig, Gabriel, Stacey, Smith, Joshua D., Aguet, François, Ardlie, Kirstin, Blackwell, Tom, Reiner, Alexander P., Rotter, Jerome I., Rich, Stephen S., Redline, Susan, Sofer, Tamar

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Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas von Cygan, Kamil J., Soemedi, Rachel, Rhine, Christy L., Profeta, Abraham, Murphy, Eileen L., Murray, Michael F., Fairbrother, William G.

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Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development von Thorsson, Thor, Russell, William W., El-Kashlan, Nour, Soemedi, Rachel, Levine, Jonathan, Geisler, Sarah B., Ackley, Todd, Tomita-Mitchell, Aoy, Rosenfeld, Jill A., Töpf, Ana, Tayeh, Marwan, Goodship, Judith, Innis, Jeffrey W., Keavney, Bernard, Russell, Mark W.

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Functionally significant, rare transcription factor variants in tetralogy of Fallot von Töpf, Ana, Griffin, Helen R, Glen, Elise, Soemedi, Rachel, Brown, Danielle L, Hall, Darroch, Rahman, Thahira J, Eloranta, Jyrki J, Jüngst, Christoph, Stuart, A Graham, O'Sullivan, John, Keavney, Bernard D, Goodship, Judith A

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Genetic Variation and RNA Binding Proteins: Tools and Techniques to Detect Functional Polymorphisms von Soemedi, Rachel, Vega, Hugo, Belmont, Judson M., Ramachandran, Sohini, Fairbrother, William G.

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Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 von Cordell, Heather J, Bentham, Jamie, Topf, Ana, Zelenika, Diana, Heath, Simon, Mamasoula, Chrysovalanto, Cosgrove, Catherine, Blue, Gillian, Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Breckpot, Jeroen, Soemedi, Rachel, Martin, Ruairidh, Rahman, Thahira J, Hall, Darroch, van Engelen, Klaartje, Moorman, Antoon F.M, Zwinderman, Aelko H, Barnett, Phil, Koopmann, Tamara T, Adriaens, Michiel E, Varro, Andras, George, Alfred L, Dos Remedios, Christobal, Bishopric, Nanette H, Bezzina, Connie R, O'Sullivan, John, Gewillig, Marc, Bu'lock, Frances A, Winlaw, David, Bhattacharya, Shoumo, Devriendt, Koenraad, Brook, J. David, Mulder, Barbara J.M, Mital, Seema, Postma, Alex V, Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A, Keavney, Bernard D

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Phenotype-Specific Effect of Chromosome 1q21.1 Rearrangements and GJA5 Duplications in 2436 Congenital Heart Disease Patients and 6760 Controls von Soemedi, Rachel, Topf, Ana, Wilson, Ian J, Darlay, Rebecca, Rahman, Thahira, Glen, Elise, Hall, Darroch, Huang, Ni, Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, J. David, Granados-Riveron, Javier, Setchfield, Kerry, Bulock, Frances, Thornborough, Chris, Devriendt, Koenraad, Breckpot, Jeroen, Hofbeck, Michael, Lathrop, Mark, Rauch, Anita, Blue, Gillian M, Winlaw, David S, Hurles, Matthew, Santibanez-Koref, Mauro, Cordell, Heather J, Goodship, Judith A, Keavney, Bernard D

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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot von Cordell, Heather J, Töpf, Ana, Mamasoula, Chrysovalanto, Postma, Alex V, Bentham, Jamie, Zelenika, Diana, Heath, Simon, Blue, Gillian, Cosgrove, Catherine, Granados Riveron, Javier, Darlay, Rebecca, Soemedi, Rachel, Wilson, Ian J, Ayers, Kristin L, Rahman, Thahira J, Hall, Darroch, Mulder, Barbara J.M, Zwinderman, Aelko H, van Engelen, Klaartje, Brook, J. David, Setchfield, Kerry, Bu'lock, Frances A, Thornborough, Chris, O'Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Bhattacharya, Shoumo, Winlaw, David, Mital, Seema, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koenraad, Moorman, Antoon F.M, Rauch, Anita, Lathrop, G. Mark, Keavney, Bernard D, Goodship, Judith A

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Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease von Soemedi, Rachel, Wilson, Ian J, Bentham, Jamie, Darlay, Rebecca, Töpf, Ana, Zelenika, Diana, Cosgrove, Catherine, Setchfield, Kerry, Thornborough, Chris, Granados-Riveron, Javier, Blue, Gillian M, Breckpot, Jeroen, Hellens, Stephen, Zwolinkski, Simon, Glen, Elise, Mamasoula, Chrysovalanto, Rahman, Thahira J, Hall, Darroch, Rauch, Anita, Devriendt, Koenraad, Gewillig, Marc, O'Sullivan, John, Winlaw, David S, Bu'lock, Frances, Brook, J David, Bhattacharya, Shoumo, Lathrop, Mark, Santibanez-Koref, Mauro, Cordell, Heather J, Goodship, Judith A

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