Implementation of individualised polygenic risk score analysis: a test case of a family of four von Corpas, Manuel, Megy, Karyn, Metastasio, Antonio, Lehmann, Edmund

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Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy von 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.

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Whole Genome Interpretation for a Family of Five von Corpas, Manuel, Megy, Karyn, Mistry, Vanisha, Metastasio, Antonio, Lehmann, Edmund

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Germline mutations in the transcription factor IKZF5 cause thrombocytopenia von 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

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ArrayExpress update—simplifying data submissions von 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

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood von 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

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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing von 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

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Comparative Genomics Allows the Discovery of Cis-Regulatory Elements in Mosquitoes von Sieglaff, Douglas H., Dunn, W. Augustine, Xie, Xiaohui S., Megy, Karyn, Marinotti, Osvaldo, James, Anthony A.

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ArrayExpress update--simplifying data submissions von 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

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Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders von 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

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Advances in understanding the pathogenesis of hereditary macrothrombocytopenia von Collins, Janine, Astle, William J., Megy, Karyn, Mumford, Andrew D., Vuckovic, Dragana

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Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH von 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

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Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia von 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

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How common are single gene mutations as a cause for lacunar stroke?: A targeted gene panel study von 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

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Genome Sequence of the Tsetse Fly (Glossina morsitans): Vector of African Trypanosomiasis von Attardo, Geoffrey M., Abila, Patrick P., Auma, Joanna E., Baumann, Aaron A., Benoit, Joshua B., Brelsfoard, Corey L., Ribeiro, José M. C., Cotton, James A., Pham, Daphne Q. D., Darby, Alistair C., Van Den Abbeele, Jan, Denlinger, David L., Field, Linda M., Nyanjom, Steven R. G., Gaunt, Michael W., Geiser, Dawn L., Gomulski, Ludvik M., Haines, Lee R., Hansen, Immo A., Jones, Jeffery W., Kibet, Caleb K., Kinyua, Johnson K., Larkin, Denis M., Lehane, Michael J., Rio, Rita V. M., Macdonald, Sandy J., Macharia, Rosaline W., Malacrida, Anna R., Marco, Heather G., Marucha, Kevin K., Masiga, Daniel K., Meuti, Megan E., Mireji, Paul O., Obiero, George F. O., Koekemoer, Jacobus J. O., Okoro, Chinyere K., Omedo, Irene A., Osamor, Victor C., Balyeidhusa, Apollo S. P., Peyton, Justin T., Price, David P., Quail, Michael A., Ramphul, Urvashi N., Rawlings, Neil D., Riehle, Michael A., Robertson, Hugh M., Sanders, Mandy J., Scott, Maxwell J., Dashti, Zahra Jalali Sefid, Snyder, Anna K., Srivastava, Tulika P., Stanley, Eleanor J., Swain, Martin T., Hughes, Daniel S. T., Tarone, Aaron M., Taylor, Todd D., Telleria, Erich L., Thomas, Gavin H., Walshe, Deirdre P., Wilson, Richard K., Winzerling, Joy J., Acosta-Serrano, Alvaro, Aksoy, Serap, Arensburger, Peter, Aslett, Martin, Bateta, Rosemary, Benkahla, Alia, Berriman, Matthew, Bourtzis, Kostas, Caers, Jelle, Caljon, Guy, Christoffels, Alan, Falchetto, Marco, Friedrich, Markus, Fu, Shuhua, Gäde, Gerd, Githinji, George, Gregory, Richard, Hall, Neil, Harkins, Gordon, Hattori, Masahira, Hertz-Fowler, Christiane, Hide, Winston, Hu, Wanqi, Imanishi, Tadashi, Inoue, Noboru, Jonas, Mario, Kawahara, Yoshihiro, Koffi, Mathurin, Kruger, Adele, Lawson, Daniel, Lehane, Stella, Lehväslaiho, Heikki, Luiz, Thiago, Makgamathe, Mmule, Malele, Imna, Manangwa, Oliver, Manga, Lucien, Megy, Karyn, Michalkova, Veronika

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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thr... von Megy, Karyn, Downes, Kate, Morel-Kopp, Marie-Christine, Bastida, Jose M., Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V., Othman, Maha, Ouwehand, Willem H., Perez Botero, Juliana, Rivera, Jose, Schulze, Harald, Tregouet, David-Alexandre, Freson, Kathleen

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Moving ＂Forward＂ in Plasmodium Genetics through a Transposon-Based Approach von Balu, Bharath

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Comprehensive Description of Monoallelic GP1BA Variants Associated with Thrombocytopenia von 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

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Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework von Ross, Justyne E, Mohan, Shruthi, Zhang, Jing, Sullivan, Mia J, Bury, Loredana, Lee, Kristy, Futchi, Isabella, Frantz, Annabelle, Mcdougal, Dara, Botero, Juliana Perez, Cattaneo, Marco, Cooper, Nichola, Downes, Kate, Gresele, Paolo, Keenan, Catriona, Lee, Alfred I, Megy, Karyn, Morange, Pierre-Emmanuel, Morgan, Neil, Schulze, Harald, Zimowski, Karen, Freson, Kathleen, Lambert, Michele P

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders von 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.

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