INSIG-2 promoter polymorphism and obesity related phenotypes: association study in 1428 members of 248 families

di Hall, Darroch H, Rahman, Thahira, Avery, Peter J, Keavney, Bernard
Pubblicazione 2006

In silico engineering of Pseudomonas metabolism reveals new biomarkers for increased biosurfactant production

di Occhipinti, Annalisa, Eyassu, Filmon, Rahman, Thahira J., Rahman, Pattanathu K. S. M., Angione, Claudio
Pubblicato in PeerJ (2018)

Common variation in the CD36 (fatty acid translocase) gene is associated with left-ventricular mass

di Hall, Darroch, Mayosi, Bongani M., Rahman, Thahira J., Avery, Peter J., Watkins, Hugh C., Keavney, Bernard
Pubblicato in J Hypertens (2011)

Common Variation Neighbouring Micro-RNA 22 Is Associated with Increased Left Ventricular Mass

di Harper, Andrew R., Mayosi, Bongani M., Rodriguez, Antony, Rahman, Thahira, Hall, Darroch, Mamasoula, Chrysovalanto, Avery, Peter J., Keavney, Bernard D.
Pubblicazione 2013

Using population data for assessing next-generation sequencing performance

di Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Pubblicato in Bioinformatics (2015)

Genotype at the P554L Variant of the Hexose-6 Phosphate Dehydrogenase Gene Is Associated with Carotid Intima-Medial Thickness

di Rahman, Thahira J., Walker, Elizabeth A., Mayosi, Bongani M., Hall, Darroch H., Avery, Peter J., Connell, John M. C., Watkins, Hugh, Stewart, Paul M., Keavney, Bernard
Pubblicazione 2011

Functionally Significant, Rare Transcription Factor Variants in Tetralogy of Fallot

di 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.
Pubblicazione 2014

A Common Variant in the PTPN11 Gene Contributes to the Risk of Tetralogy of Fallot

di Goodship, Judith A., Hall, Darroch, Topf, Ana, Mamasoula, Chrysovalanto, Griffin, Helen, Rahman, Thahira J., Glen, Elise, Tan, Huay, Doza, Julian Palomino, Relton, Caroline L., Bentham, Jamie, Bhattacharya, Shoumo, Cosgrove, Catherine, Brook, David, Granados-Riveron, Javier, Bu’Lock, Frances A., O’Sullivan, John, Stuart, A. Graham, Parsons, Jonathan, Cordell, Heather J., Keavney, Bernard
Pubblicato in Circ Cardiovasc Genet (2012)

Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency

di Dickinson, Rachel Emma, Griffin, Helen, Bigley, Venetia, Reynard, Louise N., Hussain, Rafiqul, Haniffa, Muzlifah, Lakey, Jeremy H., Rahman, Thahira, Wang, Xiao-Nong, McGovern, Naomi, Pagan, Sarah, Cookson, Sharon, McDonald, David, Chua, Ignatius, Wallis, Jonathan, Cant, Andrew, Wright, Michael, Keavney, Bernard, Chinnery, Patrick F., Loughlin, John, Hambleton, Sophie, Santibanez-Koref, Mauro, Collin, Matthew
Pubblicato in Blood (2011)

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

di 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.
Pubblicazione 2012

Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis

di Mercier, Sandra, Küry, Sébastien, Shaboodien, Gasnat, Houniet, Darren T., Khumalo, Nonhlanhla P., Bou-Hanna, Chantal, Bodak, Nathalie, Cormier-Daire, Valérie, David, Albert, Faivre, Laurence, Figarella-Branger, Dominique, Gherardi, Romain K., Glen, Elise, Hamel, Antoine, Laboisse, Christian, Le Caignec, Cédric, Lindenbaum, Pierre, Magot, Armelle, Munnich, Arnold, Mussini, Jean-Marie, Pillay, Komala, Rahman, Thahira, Redon, Richard, Salort-Campana, Emmanuelle, Santibanez-Koref, Mauro, Thauvin, Christel, Barbarot, Sébastien, Keavney, Bernard, Bézieau, Stéphane, Mayosi, Bongani M.
Pubblicazione 2013

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

di 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.
Pubblicazione 2012

Genome-wide association study identifies risk loci for progressive chronic lymphocytic leukemia

di Lin, Wei-Yu, Fordham, Sarah E., Sunter, Nicola, Elstob, Claire, Rahman, Thahira, Willmore, Elaine, Shepherd, Colin, Strathdee, Gordon, Mainou-Fowler, Tryfonia, Piddock, Rachel, Mearns, Hannah, Barrow, Timothy, Houlston, Richard S., Marr, Helen, Wallis, Jonathan, Summerfield, Geoffrey, Marshall, Scott, Pettitt, Andrew, Pepper, Christopher, Fegan, Christopher, Forconi, Francesco, Dyer, Martin J. S., Jayne, Sandrine, Sellors, April, Schuh, Anna, Robbe, Pauline, Oscier, David, Bailey, James, Rais, Syed, Bentley, Alison, Cawkwell, Lynn, Evans, Paul, Hillmen, Peter, Pratt, Guy, Allsup, David J., Allan, James M.
Pubblicato in Nat Commun (2021)

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

di 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.
Pubblicazione 2013

Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci

di Law, Philip J., Sud, Amit, Mitchell, Jonathan S., Henrion, Marc, Orlando, Giulia, Lenive, Oleg, Broderick, Peter, Speedy, Helen E., Johnson, David C., Kaiser, Martin, Weinhold, Niels, Cooke, Rosie, Sunter, Nicola J., Jackson, Graham H., Summerfield, Geoffrey, Harris, Robert J., Pettitt, Andrew R., Allsup, David J., Carmichael, Jonathan, Bailey, James R., Pratt, Guy, Rahman, Thahira, Pepper, Chris, Fegan, Chris, von Strandmann, Elke Pogge, Engert, Andreas, Försti, Asta, Chen, Bowang, Filho, Miguel Inacio da Silva, Thomsen, Hauke, Hoffmann, Per, Noethen, Markus M., Eisele, Lewin, Jöckel, Karl-Heinz, Allan, James M., Swerdlow, Anthony J., Goldschmidt, Hartmut, Catovsky, Daniel, Morgan, Gareth J., Hemminki, Kari, Houlston, Richard S.
Pubblicato in Sci Rep (2017)

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

di 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, Koen, Brook, J. David, Mulder, Barbara J.M., Mital, Seema, Postma, Alex V., Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Keavney, Bernard D.
Pubblicazione 2013

Association between C677T Polymorphism of Methylene Tetrahydrofolate Reductase and Congenital Heart Disease: Meta-Analysis of 7,697 Cases and 13,125 Controls

di Mamasoula, Chrysovalanto, Prentice, R. Reid, Pierscionek, Tomasz, Pangilinan, Faith, Mills, James L., Druschel, Charlotte, Pass, Kenneth, Russell, Mark W., Hall, Darroch, Töpf, Ana, Brown, Danielle L., Zelenika, Diana, Bentham, Jamie, Cosgrove, Catherine, Bhattacharya, Shoumo, Riveron, Javier Granados, Setchfield, Kerry, Brook, J. David, Bu'Lock, Frances A., Thornborough, Chris, Rahman, Thahira J., Doza, Julian Palomino, Tan, Huay L., O'Sullivan, John, Stuart, A. Graham, Blue, Gillian, Winlaw, David, Postma, Alex V., Mulder, Barbara J.M., Zwinderman, Aelko H., van Engelen, Klaartje, Moorman, Antoon F.M., Rauch, Anita, Gewillig, Marc, Breckpot, Jeroen, Devriendt, Koen, Lathrop, G. Mark, Farrall, Martin, Goodship, Judith A., Cordell, Heather J., Brody, Lawrence C., Keavney, Bernard D.
Pubblicazione 2013