Planning to conceive within a year is associated with better pregnancy-specific disease-related patient knowledge and better medication adherence in women of childbearing age with inflammatory bowel disease
Selinger, Christian P., Laube, Robyn, Steed, Helen, Brookes, Matthew, BioResource, NIHR, Leong, Rupert W. L.
Published in Therapeutic advances in gastroenterology (01.01.2023)
Published in Therapeutic advances in gastroenterology (01.01.2023)
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Journal Article
Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
Poggi, Marjorie, Canault, Matthias, Favier, Marie, Turro, Ernest, Saultier, Paul, Ghalloussi, Dorsaf, Baccini, Veronique, Vidal, Lea, Mezzapesa, Anna, Chelghoum, Nadjim, Mohand-Oumoussa, Badreddine, Falaise, Céline, Favier, Rémi, Ouwehand, Willem H, Fiore, Mathieu, Peiretti, Franck, Morange, Pierre Emmanuel, Saut, Noémie, Bernot, Denis, Greinacher, Andreas, BioResource, Nihr, Nurden, Alan T, Nurden, Paquita, Freson, Kathleen, Trégouët, David-Alexandre, Raslova, Hana, Alessi, Marie-Christine
Published in Haematologica (Roma) (01.02.2017)
Published in Haematologica (Roma) (01.02.2017)
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Journal Article
Identification of a homozygous recessive variant in PTGS1 resulting in a congenital aspirin-like defect in platelet function
Chan, Melissa V, Hayman, Melissa A, Sivapalaratnam, Suthesh, Crescente, Marilena, Allan, Harriet E, Edin, Matthew L, Zeldin, Darryl C, Milne, Ginger L, Stephens, Jonathan, Greene, Daniel, Hanif, Moghees, O'Donnell, Valerie B, Dong, Liang, Malkowski, Michael G, Lentaigne, Claire, Wedderburn, Katherine, Stubbs, Matthew, Downes, Kate, Ouwehand, Willem H, Turro, Ernest, BioResource, Nihr, Hart, Daniel P, Freson, Kathleen, Laffan, Michael A, Warner, Timothy D
Published in Haematologica (Roma) (01.05.2021)
Published in Haematologica (Roma) (01.05.2021)
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Journal Article
Expression Quantitative Trait Locus Mapping in Pulmonary Arterial Hypertension
Ulrich, Anna, Otero-Núñez, Pablo, Wharton, John, Swietlik, Emilia M, Gräf, Stefan, Morrell, Nicholas W, Wang, Dennis, Lawrie, Allan, Wilkins, Martin R, Prokopenko, Inga, Rhodes, Christopher J, Consortium, On Behalf Of The Nihr BioResource-Rare Diseases, Consortium, Uk Pah Cohort Study
Published in Genes (22.10.2020)
Published in Genes (22.10.2020)
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Journal Article
A novel missense variant in SLC18A2 causes recessive brain monoamine vesicular transport disease and absent serotonin in platelets
Padmakumar, Manisha, Jaeken, Jaak, Ramaekers, Vincent, Lagae, Lieven, Greene, Daniel, Thys, Chantal, Van Geet, Chris, BioResource, NIHR, Stirrups, Kathleen, Downes, Kate, Turro, Ernest, Freson, Kathleen
Published in JIMD reports (01.05.2019)
Published in JIMD reports (01.05.2019)
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Journal Article
Phenotype Similarity Regression for Identifying the Genetic Determinants of Rare Diseases
Greene, Daniel, Richardson, Sylvia, Turro, Ernest
Published in American journal of human genetics (03.03.2016)
Published in American journal of human genetics (03.03.2016)
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Journal Article
Genes and Cognition, a recallable cohort to study Dementia/Alzheimer’s disease
Rahman, Md Shafiqur, Hill, Steven M, Tom, Brian D M, Chinnery, Patrick F, BioResource, NIHR
Published in Alzheimer's & dementia (01.12.2023)
Published in Alzheimer's & dementia (01.12.2023)
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Journal Article
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
Downes, Kate, Megy, Karyn, Duarte, Daniel, Vries, Minka, Gebhart, Johanna, Hofer, Stefanie, Shamardina, Olga, Deevi, Sri V.V., Stephens, Jonathan, Mapeta, Rutendo, Tuna, Salih, Al Hasso, Namir, Besser, Martin W., Cooper, Nichola, Daugherty, Louise, Gleadall, Nick, Greene, Daniel, Haimel, Matthias, Martin, Howard, Papadia, Sofia, Revel-Vilk, Shoshana, Sivapalaratnam, Suthesh, Symington, Emily, Thomas, Will, Thys, Chantal, Tolios, Alexander, Penkett, Christopher J., Ouwehand, Willem H., Abbs, Stephen, Laffan, Michael A., Turro, Ernest, Simeoni, Ilenia, Mumford, Andrew D., Henskens, Yvonne M.C., Pabinger, Ingrid, Gomez, Keith, Freson, Kathleen
Published in Blood (05.12.2019)
Published in Blood (05.12.2019)
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Journal Article
Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia
Peck, Rachel C, Westbury, Sarah, Fitzgibbon, Lucy, Morgan, Neil V, Rivera, Jose, Kahr, Walter H., BioResource, Nihr, Megy, Karyn, Downes, Kate, Greene, Daniel, Turro, Ernest, Mumford, Andrew David
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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Journal Article
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model
Bierzynska, Agnieszka, Bull, Katherine, Miellet, Sara, Dean, Philip, Neal, Chris, Colby, Elizabeth, McCarthy, Hugh J., Hegde, Shivaram, Sinha, Manish D., Bugarin Diz, Carmen, Stirrups, Kathleen, Megy, Karyn, Mapeta, Rutendo, Penkett, Chris, Marsh, Sarah, Forrester, Natalie, Afzal, Maryam, Stark, Hannah, BioResource, NIHR, Williams, Maggie, Welsh, Gavin I., Koziell, Ania B., Hartley, Paul S., Saleem, Moin A.
Published in Pediatric nephrology (Berlin, West) (01.11.2022)
Published in Pediatric nephrology (Berlin, West) (01.11.2022)
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Journal Article
Germline mutations in the transcription factor IKZF5 cause thrombocytopenia
Lentaigne, Claire, Greene, Daniel, Sivapalaratnam, Suthesh, Favier, Remi, Seyres, Denis, Thys, Chantal, Grassi, Luigi, Mangles, Sarah, Sibson, Keith, Stubbs, Matthew, Burden, Frances, Bordet, Jean-Claude, Armari-Alla, Corinne, Erber, Wendy, Farrow, Samantha, Gleadall, Nicholas, Gomez, Keith, Megy, Karyn, Papadia, Sofia, Penkett, Christopher J., Sims, Matthew C., Stefanucci, Luca, Stephens, Jonathan C., Read, Randy J., Stirrups, Kathleen E., Ouwehand, Willem H., Laffan, Michael A., Frontini, Mattia, Freson, Kathleen, Turro, Ernest
Published in Blood (05.12.2019)
Published in Blood (05.12.2019)
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Journal Article
Mutations in tropomyosin 4 underlie a rare form of human macrothrombocytopenia
Pleines, Irina, Woods, Joanne, Chappaz, Stephane, Kew, Verity, Foad, Nicola, Ballester-Beltrán, José, Aurbach, Katja, Lincetto, Chiara, Lane, Rachael M, Schevzov, Galina, Alexander, Warren S, Hilton, Douglas J, Astle, William J, Downes, Kate, Nurden, Paquita, Westbury, Sarah K, Mumford, Andrew D, Obaji, Samya G, Collins, Peter W, Delerue, Fabien, Ittner, Lars M, Bryce, Nicole S, Holliday, Mira, Lucas, Christine A, Hardeman, Edna C, Ouwehand, Willem H, Gunning, Peter W, Turro, Ernest, Tijssen, Marloes R, Kile, Benjamin T
Published in The Journal of clinical investigation (01.03.2017)
Published in The Journal of clinical investigation (01.03.2017)
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Journal Article
A coagulation defect arising from heterozygous premature termination of tissue factor
Schulman, Sol, El-Darzi, Emale, Florido, Mary Hc, Friesen, Max, Merrill-Skoloff, Glenn, Brake, Marisa A, Schuster, Calvin R, Lin, Lin, Westrick, Randal J, Cowan, Chad A, Flaumenhaft, Robert, Ouwehand, Willem H, Peerlinck, Kathelijne, Freson, Kathleen, Turro, Ernest, Furie, Bruce
Published in The Journal of clinical investigation (01.10.2020)
Published in The Journal of clinical investigation (01.10.2020)
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Journal Article
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
Bury, Loredana, Megy, Karyn, Stephens, Jonathan C., Grassi, Luigi, Greene, Daniel, Gleadall, Nick, Althaus, Karina, Allsup, David, Bariana, Tadbir K., Bonduel, Mariana, Butta, Nora V., Collins, Peter, Curry, Nicola, Deevi, Sri V. V., Downes, Kate, Duarte, Daniel, Elliott, Kim, Falcinelli, Emanuela, Furie, Bruce, Keeling, David, Lambert, Michele P., Linger, Rachel, Mangles, Sarah, Mapeta, Rutendo, Millar, Carolyn M., Penkett, Christopher, Perry, David J., Stirrups, Kathleen E., Turro, Ernest, Westbury, Sarah K., Wu, John, BioResource, NIHR, Gomez, Keith, Freson, Kathleen, Ouwehand, Willem H., Gresele, Paolo, Simeoni, Ilenia
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Factors Associated with Family Planning Status and Voluntary Childlessness in Women of Childbearing Age with Inflammatory Bowel Diseases
Selinger, Christian P, Steed, Helen, Purewal, Satvinder, Homer, Rebecca, Nihr BioResource, Brookes, Matthew
Published in Journal of clinical medicine (26.06.2023)
Published in Journal of clinical medicine (26.06.2023)
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Journal Article
Congenital Aspirin-like Defect As a Result of Autosomal Recessive Variants in PTGS1
Sivapalaratnam, Suthesh, Melissa, Hayman, Lentaigne, Claire, Chan, Melissa, Crescente, Marilena, Allan, Harriet, Wedderburn, Katherine, Hanif, Moghees, Turro, Ernest, Hart, Dan P, Freson, Kathleen, Downes, Kate, Bioresource, NIHR, Ouwehand, Willem, Laffan, Michael, Warner, Tim
Published in Blood (29.11.2018)
Published in Blood (29.11.2018)
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Journal Article
PIGO deficiency: palmoplantar keratoderma and novel mutations
Morren, Marie-Anne, Jaeken, Jaak, Visser, Gepke, Salles, Isabelle, Van Geet, Chris, Simeoni, Ilenia, Turro, Ernest, Freson, Kathleen
Published in Orphanet journal of rare diseases (25.05.2017)
Published in Orphanet journal of rare diseases (25.05.2017)
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Journal Article
Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels
Hysi, Pirro G, Mangino, Massimo, Christofidou, Paraskevi, Falchi, Mario, Karoly, Edward D, Nihr Bioresource Investigators, Mohney, Robert P, Valdes, Ana M, Spector, Tim D, Menni, Cristina
Published in Metabolites (11.01.2022)
Published in Metabolites (11.01.2022)
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Journal Article