Implementation of individualised polygenic risk score analysis: a test case of a family of four
Corpas, Manuel, Megy, Karyn, Metastasio, Antonio, Lehmann, Edmund
Published in BMC medical genomics (03.10.2022)
Published in BMC medical genomics (03.10.2022)
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Journal Article
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy
Levine, Adam P, Chan, Melanie M Y, Sadeghi-Alavijeh, Omid, Wong, Edwin K S, Cook, H Terence, Ashford, Sofie, Carss, Keren, Christian, Martin T, Hall, Matthew, Harris, Claire Louise, McAlinden, Paul, Marchbank, Kevin J, Marks, Stephen D, Maxwell, Heather, Megy, Karyn, Penkett, Christopher J, Mozere, Monika, Stirrups, Kathleen E, Tuna, Salih, Wessels, Julie, Whitehorn, Deborah, Johnson, Sally A, Gale, Daniel P
Published in Journal of the American Society of Nephrology (01.02.2020)
Published in Journal of the American Society of Nephrology (01.02.2020)
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Journal Article
Whole Genome Interpretation for a Family of Five
Corpas, Manuel, Megy, Karyn, Mistry, Vanisha, Metastasio, Antonio, Lehmann, Edmund
Published in Frontiers in genetics (08.03.2021)
Published in Frontiers in genetics (08.03.2021)
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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
ArrayExpress update—simplifying data submissions
Kolesnikov, Nikolay, Hastings, Emma, Keays, Maria, Melnichuk, Olga, Tang, Y. Amy, Williams, Eleanor, Dylag, Miroslaw, Kurbatova, Natalja, Brandizi, Marco, Burdett, Tony, Megy, Karyn, Pilicheva, Ekaterina, Rustici, Gabriella, Tikhonov, Andrew, Parkinson, Helen, Petryszak, Robert, Sarkans, Ugis, Brazma, Alvis
Published in Nucleic acids research (28.01.2015)
Published in Nucleic acids research (28.01.2015)
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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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Journal Article
De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family
De Kock, Lore, Thys, Chantal, Downes, Kate, Duarte, Daniel, Megy, Karyn, Van Geet, Chris, Freson, Kathleen
Published in Platelets (Edinburgh) (03.10.2019)
Published in Platelets (Edinburgh) (03.10.2019)
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Journal Article
Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes
Sieglaff, Douglas H., Dunn, W. Augustine, Xie, Xiaohui S., Megy, Karyn, Marinotti, Osvaldo, James, Anthony A.
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (03.03.2009)
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Journal Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E, Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R, Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H, Raymond, F Lucy, Carss, Keren J
Published in Genome medicine (07.12.2018)
Published in Genome medicine (07.12.2018)
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Journal Article
ArrayExpress update--simplifying data submissions
Kolesnikov, Nikolay, Hastings, Emma, Keays, Maria, Melnichuk, Olga, Tang, Y Amy, Williams, Eleanor, Dylag, Miroslaw, Kurbatova, Natalja, Brandizi, Marco, Burdett, Tony, Megy, Karyn, Pilicheva, Ekaterina, Rustici, Gabriella, Tikhonov, Andrew, Parkinson, Helen, Petryszak, Robert, Sarkans, Ugis, Brazma, Alvis
Published in Nucleic acids research (28.01.2015)
Published in Nucleic acids research (28.01.2015)
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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
Advances in understanding the pathogenesis of hereditary macrothrombocytopenia
Collins, Janine, Astle, William J., Megy, Karyn, Mumford, Andrew D., Vuckovic, Dragana
Published in British journal of haematology (01.10.2021)
Published in British journal of haematology (01.10.2021)
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Journal Article
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH
Megy, Karyn, Downes, Kate, Simeoni, Ilenia, Bury, Loredana, Morales, Joannella, Mapeta, Rutendo, Bellissimo, Daniel B., Bray, Paul F., Goodeve, Anne C., Gresele, Paolo, Lambert, Michele, Reitsma, Pieter, Ouwehand, Willem H., Freson, Kathleen
Published in Journal of thrombosis and haemostasis (01.08.2019)
Published in Journal of thrombosis and haemostasis (01.08.2019)
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Journal Article
How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study
Tan, Rhea Y Y, Traylor, Matthew, Megy, Karyn, Duarte, Daniel, Deevi, Sri V V, Shamardina, Olga, Mapeta, Rutendo P, Ouwehand, Willem H, Gräf, Stefan, Downes, Kate, Markus, Hugh S
Published in Neurology (26.11.2019)
Published in Neurology (26.11.2019)
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Journal Article
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis
Megy, Karyn, Downes, Kate, Morel-Kopp, Marie-Christine, Bastida, José M, Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V, Othman, Maha, Ouwehand, Willem H, Perez Botero, Juliana, Rivera, José, Schulze, Harald, Trégouët, David-Alexandre, Freson, Kathleen
Published in Journal of thrombosis and haemostasis (01.10.2021)
Published in Journal of thrombosis and haemostasis (01.10.2021)
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Journal Article
Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia
Shovlin, Claire L., Simeoni, Ilenia, Downes, Kate, Frazer, Zoe C., Megy, Karyn, Bernabeu-Herrero, Maria E., Shurr, Abigail, Brimley, Jennifer, Patel, Dilipkumar, Kell, Loren, Stephens, Jonathan, Turbin, Isobel G., Aldred, Micheala A., Penkett, Christopher J., Ouwehand, Willem H., Jovine, Luca, Turro, Ernest
Published in Blood (22.10.2020)
Published in Blood (22.10.2020)
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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
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants
Stefanucci, Luca, Collins, Janine, Sims, Matthew C., Barrio-Hernandez, Inigo, Sun, Luanluan, Burren, Oliver S., Perfetto, Livia, Bender, Isobel, Callahan, Tiffany J., Fleming, Kathryn, Guerrero, Jose A., Hermjakob, Henning, Martin, Maria J., Stephenson, James, Paneerselvam, Kalpana, Petrovski, Slavé, Porras, Pablo, Robinson, Peter N., Wang, Quanli, Watkins, Xavier, Frontini, Mattia, Laskowski, Roman A., Beltrao, Pedro, Di Angelantonio, Emanuele, Gomez, Keith, Laffan, Mike, Ouwehand, Willem H., Mumford, Andrew D., Freson, Kathleen, Carss, Keren, Downes, Kate, Gleadall, Nick, Megy, Karyn, Bruford, Elspeth, Vuckovic, Dragana
Published in Blood (14.12.2023)
Published in Blood (14.12.2023)
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Journal Article
Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, Dewhurst, Eleanor, Low, Kayyi, French, Courtney E., Grozeva, Detelina, Stirrups, Kathleen, Erwood, Marie, McTague, Amy, Penkett, Christopher J., Shamardina, Olga, Tuna, Salih, Daugherty, Louise C., Gleadall, Nicholas, Duarte, Sofia T., Hedrera-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, Carss, Keren J.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Journal Article
First Genotype-Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease
Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M, Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L, Chung, Wendy K, Berger, Rolf M F, Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M A, Kerstjens-Frederikse, Wilhelmina, Kiely, David G, Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J, Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A A Roger, Wharton, John, Wort, Stephen J, Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M, Martin, Jennifer M, Li, Wei, Swift, Andrew J, Upton, Paul D, Morrell, Nicholas W, Gräf, Stefan, Valverde, Diana
Published in American journal of respiratory and critical care medicine (15.12.2022)
Published in American journal of respiratory and critical care medicine (15.12.2022)
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