Prospective, international, multisite comparison of platelet isolation techniques for genome-wide transcriptomics: communication from the SSC of the ISTH

Authors: Banerjee, Meenakshi ¹, Rowley, Jesse W. ^{1, 2}, Stubben, Chris J. ³, Tolley, Neal D. ¹, Freson, Kathleen ⁴, Nelson, Benjamin ¹, Nagy, Béla, Jr. ⁵, Fejes, Zsolt ⁵, Blair, Antoinette M. ¹, Turro, Ernest ⁶, Gresele, Paolo ⁷, Taranta, Giulia Ciarrocca ⁷, Bury, Loredana ⁷, Falcinelli, Emanuela ⁷, Lordkipanidzé, Marie ^{8, 9}, Alessi, Marie-Christine ¹⁰, Johnson, Andrew D. ^{11, 12}, Bakchoul, Tamam ¹³, Ramstrom, Sofia ¹⁴, Frontini, Mattia ¹⁵, Camera, Marina ^{16, 17}, Brambilla, Marta ¹⁶, Campbell, Robert A. ^{1, 2}, Rondina, Matthew T. ^{1, 2, 18, ∗}

Source: In Journal of Thrombosis and Haemostasis October 2024 22(10):2922-2934

A signature of platelet reactivity in CBC scattergrams reveals genetic predictors of thrombotic disease risk

Authors: Verdier, Hippolyte, Thomas, Patrick, Batista, Joana, Kempster, Carly, McKinney, Harriet, Gleadall, Nicholas, Danesh, John, Mumford, Andrew, Heemskerk, Johan W. M., Ouwehand, Willem H., Downes, Kate, Astle, William J., Turro, Ernest

Source: In Blood 30 November 2023 142(22):1895-1908

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Authors: Sims, Matthew C. ^{1, 2, 3, *}, Mayer, Louisa ^{1, 2, *}, Collins, Janine H. ^{1, 1, 2, 4, *}, Bariana, Tadbir K. ^{1, 4, 5, *}, Megy, Karyn ^{1, 2, 6}, Lavenu-Bombled, Cecile ⁷, Seyres, Denis ^{1, 2, 6}, Kollipara, Laxmikanth ⁸, Burden, Frances S. ^{1, 2, 6}, Greene, Daniel ^{1, 6, 9}, Lee, Dave ¹⁰, Rodriguez-Romera, Antonio ^{1, 2}, Alessi, Marie-Christine ¹¹, Astle, William J. ^{2, 9}, Bahou, Wadie F. ¹², Bury, Loredana ¹³, Chalmers, Elizabeth ¹⁴, Da Silva, Rachael ¹⁰, De Candia, Erica ^{15, 16}, Deevi, Sri V.V. ^{1, 6}, Farrow, Samantha ^{1, 2, 6}, Gomez, Keith ⁵, Grassi, Luigi ^{1, 2, 6}, Greinacher, Andreas ¹⁷, Gresele, Paolo ¹³, Hart, Dan ¹⁸, Hurtaud, Marie-Françoise ⁷, Kelly, Anne M. ¹, Kerr, Ron ¹⁹, Le Quellec, Sandra ²⁰, Leblanc, Thierry ⁷, Leinøe, Eva B. ²¹, Mapeta, Rutendo ^{1, 6}, McKinney, Harriet ^{1, 2, 6}, Michelson, Alan D. ²², Morais, Sara ^{23, 24}, Nugent, Diane ²⁵, Papadia, Sofia ^{1, 2, 6}, Park, Soo J. ²⁶, Pasi, John ¹⁸, Podda, Gian Marco ²⁷, Poon, Man-Chiu ²⁸, Reed, Rachel ¹⁰, Sekhar, Mallika ²⁹, Shalev, Hanna ³⁰, Sivapalaratnam, Suthesh ^{1, 4}, Steinberg-Shemer, Orna ^{31, 32}, Stephens, Jonathan C. ^{1, 6}, Tait, Robert C. ³³, Turro, Ernest ^{1, 2, 6, 9}, Wu, John K.M. ³⁴, Zieger, Barbara ³⁵, Kuijpers, Taco W. ^{36, 37}, Whetton, Anthony D. ¹⁰, Sickmann, Albert ^{8, 38, 39}, Freson, Kathleen ⁴⁰, Downes, Kate ^{1, 6}, Erber, Wendy N. ^{41, 42}, Frontini, Mattia ^{1, 2, 43}, Nurden, Paquita ⁴⁴, Ouwehand, Willem H. ^{1, 2, 6, 45}, Favier, Remi ^{7, 46}, Guerrero, Jose A. ^{2, 1, 2}

Source: In Blood 22 October 2020 136(17):1956-1967

Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Authors: Shovlin, Claire L. ^{1, 1, 2}, Simeoni, Ilenia ^{3, 4}, Downes, Kate ^{3, 4}, Frazer, Zoe C. ⁵, Megy, Karyn ^{3, 4}, Bernabeu-Herrero, Maria E. ¹, Shurr, Abigail ¹, Brimley, Jennifer ², Patel, Dilipkumar ¹, Kell, Loren ^{1, 6}, Stephens, Jonathan ^{3, 4}, Turbin, Isobel G. ¹, Aldred, Micheala A. ⁷, Penkett, Christopher J. ^{3, 4}, Ouwehand, Willem H. ^{3, 4}, Jovine, Luca ⁸, Turro, Ernest ^{2, 3, 4, 9}

Source: In Blood 22 October 2020 136(17):1907-1918

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Authors: Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Ashford, Sofie, Astle, William J., Attwood, Anthony, Bacchelli, Chiara, Batista, Joana, Baxendale, Helen E., Bethune, Claire, Bibi, Shahnaz, Bleda, Marta, Boardman, Barbara, Booth, Claire, Bradley, John R., Breen, Gerome, Brown, Matthew, Browning, Michael J., Brownlie, Mary, Buckland, Matthew S., Burns, Siobhan O., Burren, Oliver S., Carss, Keren, Chambers, John, Chandra, Anita, Brod, Naomi Clements, Clifford, Hayley, Cooper, Nichola, Daugherty, Louise C., Davies, E.G., Davies, Sophie, Davis, John, Deacock, Sarah, Deevi, Sri V.V., Dempster, John, Devlin, Lisa A., Dewhurst, Eleanor F., Downes, Kate, Drewe, Elizabeth, Duarte, Daniel, Edgar, J. David M., Edwards, Karen, Egner, William, El-Shanawany, Tariq, Erwood, Marie, Fletcher, Debra, Fox, James, Frary, Amy J., Frontini, Mattia, Furnell, Abigail, Gaspar, H. Bobby, Ghurye, Rohit, Gilmour, Kimberly C., Gleadall, Nicholas S., Goddard, Sarah, Gordins, Pavels, Gräf, Stefan, Grassi, Luigi, Greene, Daniel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Haimel, Matthias, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hu, Fengyuan, Hughes, Stephen, Huissoon, Aarnoud P., James, Roger, Jolles, Stephen, Jolley, Jennifer, Jones, Julie, Karim, Yousuf, Kasanicki, Mary A., Kelleher, Peter, Kempster, Carly, Kiani, Sorena, Kingston, Nathalie, Klein, Nigel, Kostadima, Myrto, Kreuzhuber, Roman, Kuijpers, Taco W., Kumararatne, Dinakantha, Laffan, James, Allen, Hana Lango, Lear, Sara E., Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena E., Lyons, Paul A., Maimaris, Jesmeen, Manson, Ania, Mapeta, Rutendo, Martin, Jennifer, McCarthy, Mark I., McDermott, Elizabeth M., McKinney, Harriet, Meacham, Stuart, Megy, Karyn, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai H.K., Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Penkett, Christopher J., Petersen, Romina, Ponsford, Mark J., Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Raymond, F. Lucy, Rayner-Matthews, Paula J., Richter, Alex, Samani, Nilesh, Samarghitean, Crina, Sanchis-Juan, Alba, Sargur, Ravishankar B., Savic, Sinisa, Seneviratne, Suranjith L., Sewell, W.A. Carrock, Seyres, Denis, Shackley, Fiona, Shamardina, Olga, Simeoni, Ilenia, Simpson, Michael A., Smith, Kenneth G.C., Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Steele, Cathal L., Stephens, Jonathan, Stirrups, Kathleen E., Thaventhiran, James E., Thomas, David, Thomas, Moira J., Thomas, Patrick, Thrasher, Adrian J., Tilly, Tobias, Titterton, Catherine, Treadaway, Paul, Tuna, Salih, Turro, Ernest, Urniaz, Rafal, von Ziegenweidt, Julie, Walker, Neil, Watt, Christopher, Welch, Steven B., Whitehorn, Deborah, Willcocks, Lisa, Wood, Nicholas, Wood, Yvette, Workman, Sarita, Worth, Austen, Yates, Katherine, Yeatman, Nigel, Yong, Patrick F.K., Young, Timothy, Yu, Ping, Zlamalova, Eliska, Lorenzini, Tiziana, Fliegauf, Manfred, Klammer, Nils, Frede, Natalie, Proietti, Michele, Bulashevska, Alla, Camacho-Ordonez, Nadezhda, Varjosalo, Markku, Kinnunen, Matias, de Vries, Esther, van der Meer, Jos W.M., Ameratunga, Rohan, Roifman, Chaim M., Schejter, Yael D., Kobbe, Robin, Hautala, Timo, Atschekzei, Faranaz, Schmidt, Reinhold E., Schröder, Claudia, Stepensky, Polina, Shadur, Bella, Pedroza, Luis A., van der Flier, Michiel, Martínez-Gallo, Mónica, Gonzalez-Granado, Luis Ignacio, Allende, Luis M., Shcherbina, Anna, Kuzmenko, Natalia, Zakharova, Victoria, Neves, João Farela, Svec, Peter, Fischer, Ute, Ip, Winnie, Bartsch, Oliver, Barış, Safa, Klein, Christoph, Geha, Raif, Chou, Janet, Alosaimi, Mohammed, Weintraub, Lauren, Boztug, Kaan, Hirschmugl, Tatjana, Dos Santos Vilela, Maria Marluce, Holzinger, Dirk, Seidl, Maximilian, Lougaris, Vassilios, Plebani, Alessandro, Alsina, Laia, Piquer-Gibert, Monica, Deyà-Martínez, Angela, Slade, Charlotte A., Aghamohammadi, Asghar, Abolhassani, Hassan, Hammarström, Lennart, Kuismin, Outi, Helminen, Merja, Freeman, Alexandra F., Cook, Matthew, Bakhtiar, Shahrzad, Christiansen, Mette, Cunningham-Rundles, Charlotte, Patel, Niraj C., Rae, William, Niehues, Tim, Brauer, Nina, Syrjänen, Jaana, Seppänen, Mikko R.J., Tuijnenburg, Paul, Warnatz, Klaus, Grimbacher, Bodo

Source: In The Journal of Allergy and Clinical Immunology October 2020 146(4):901-911

Germline selection shapes human mitochondrial DNA diversity

Authors: NIHR BioResource-Rare Diseases, 1001000 Genomes Project-Rare Diseases Pilot, Wei, Wei, Tuna, Salih, Keogh, Michael J., Smith, Katherine R., Aitman, Timothy J., Beales, Phil L., Bennett, David L., Gale, Daniel P., Bitner-Glindzicz, Maria A. K., Black, Graeme C., Brennan, Paul, Elliott, Perry, Flinter, Frances A., Floto, R. Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R., Markus, Hugh S., Morrell, Nicholas W., Newman, William G., Roberts, Irene, Sayer, John A., Smith, Kenneth G. C., Taylor, Jenny C., Watkins, Hugh, Webster, Andrew R., Wilkie, Andrew O. M., Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J., Stirrups, Kathleen E., Rendon, Augusto, Ouwehand, Willem H., Bradley, John R., Raymond, F. Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F.

Source: Science, 2019 May . 364(6442), 749-749.

Access URL: https://www.jstor.org/stable/26681411

Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia

Authors: Cornish, Naomi ^*, Aungraheeta, M. Riyaad, FitzGibbon, Lucy, Burley, Kate, Alibhai, Dominic, Collins, Janine, Greene, Daniel, Downes, Kate, Westbury, Sarah K., Turro, Ernest, Mumford, Andrew D.

Source: In Blood Advances 10 March 2020 4(5):920-924

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

Authors: Downes, Kate ^{1, 2, 3, 4, *}, Megy, Karyn ^{1, 2, *}, Duarte, Daniel ^{1, 2}, Vries, Minka ⁵, Gebhart, Johanna ⁶, Hofer, Stefanie ⁶, Shamardina, Olga ^{1, 2}, Deevi, Sri V.V. ^{1, 2}, Stephens, Jonathan ^{1, 2}, Mapeta, Rutendo ^{1, 2}, Tuna, Salih ^{1, 2}, Al Hasso, Namir ⁴, Besser, Martin W. ⁷, Cooper, Nichola ⁸, Daugherty, Louise ^{1, 2}, Gleadall, Nick ^{1, 3}, Greene, Daniel ^{1, 3, 9}, Haimel, Matthias ^{10, 11}, Martin, Howard ⁴, Papadia, Sofia ^{1, 2}, Revel-Vilk, Shoshana ¹², Sivapalaratnam, Suthesh ^{1, 3, 13}, Symington, Emily ⁷, Thomas, Will ⁷, Thys, Chantal ¹⁴, Tolios, Alexander ¹⁵, Penkett, Christopher J. ^{1, 2}, Ouwehand, Willem H. ^{1, 2, 3, 16}, Abbs, Stephen ⁴, Laffan, Michael A. ⁸, Turro, Ernest ^{1, 2, 3, 9}, Simeoni, Ilenia ^{1, 2}, Mumford, Andrew D. ¹⁷, Henskens, Yvonne M.C. ¹⁸, Pabinger, Ingrid ⁶, Gomez, Keith ^{19, 20}, Freson, Kathleen ¹⁴

Source: In Blood 5 December 2019 134(23):2082-2091

Germline mutations in the transcription factor IKZF5 cause thrombocytopenia

Authors: Lentaigne, Claire ^{1, 2, 3, *}, Greene, Daniel ^{3, 4, 5, *}, Sivapalaratnam, Suthesh ^{3, 6, *}, Favier, Remi ^{7, 8, *}, Seyres, Denis ^{3, 4, 9}, Thys, Chantal ¹⁰, Grassi, Luigi ^{3, 4, 9}, Mangles, Sarah ¹¹, Sibson, Keith ¹², Stubbs, Matthew ¹, Burden, Frances ^{3, 4, 9}, Bordet, Jean-Claude ¹³, Armari-Alla, Corinne ¹⁴, Erber, Wendy ^{3, 15, 16}, Farrow, Samantha ^{3, 4, 9}, Gleadall, Nicholas ^{3, 4}, Gomez, Keith ¹⁷, Megy, Karyn ^{3, 4, 9}, Papadia, Sofia ^{3, 4, 9}, Penkett, Christopher J. ^{3, 4, 9}, Sims, Matthew C. ³, Stefanucci, Luca ^{3, 4}, Stephens, Jonathan C. ^{3, 4, 9}, Read, Randy J. ¹⁸, Stirrups, Kathleen E. ^{3, 4, 9}, Ouwehand, Willem H. ^{3, 4, 9, 19}, Laffan, Michael A. ^{1, 2}, Frontini, Mattia ^{3, 9, 20}, Freson, Kathleen ^{3, 10}, Turro, Ernest ^{3, 4, 5, 9}

Source: In Blood 5 December 2019 134(23):2070-2081

Transcription Factor Levels after Forward Programming of Human Pluripotent Stem Cells with GATA1, FLI1, and TAL1 Determine Megakaryocyte versus Erythroid Cell Fate Decision

Authors: Dalby, Amanda, Ballester-Beltrán, Jose, Lincetto, Chiara, Mueller, Annett, Foad, Nicola, Evans, Amanda, Baye, James, Turro, Ernest, Moreau, Thomas, Tijssen, Marloes R., Ghevaert, Cedric

Source: In Stem Cell Reports 11 December 2018 11(6):1462-1478

A mutation of the human EPHB2 gene leads to a major platelet functional defect

Authors: Berrou, Eliane, Soukaseum, Christelle, Favier, Rémi, Adam, Frédéric, Elaib, Ziane, Kauskot, Alexandre, Bordet, Jean-Claude, Ballerini, Paola, Loyau, Stephane, Feng, Miao, Dias, Karine, Muheidli, Abbas, Girault, Stephane, Nurden, Alan T., Turro, Ernest, Ouwehand, Willem H., Denis, Cécile V., Jandrot-Perrus, Martine, Rosa, Jean-Philippe, Nurden, Paquita, Bryckaert, Marijke ^*

Source: In Blood 8 November 2018 132(19):2067-2077

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

Authors: Adhya, Zoe, Alachkar, Hana, Anantharachagan, Ariharan, Antrobus, Richard, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bethune, Claire, Bibi, Shahnaz, Boardman, Barbara, Booth, Claire, Browning, Michael, Brownlie, Mary, Burns, Siobhan, Chandra, Anita, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Dempster, John, Devlin, Lisa, Doffinger, Rainer, Drewe, Elizabeth, Edgar, David, Egner, William, El-Shanawany, Tariq, Gaspar, Bobby, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Grigoriadou, Sofia, Hackett, Scott, Hague, Rosie, Harper, Lorraine, Hayman, Grant, Herwadkar, Archana, Hughes, Stephen, Huissoon, Aarnoud, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Lorenzo, Lorena, Maimaris, Jesmeen, Manson, Ania, McDermott, Elizabeth, Millar, Hazel, Mistry, Anoop, Morrisson, Valerie, Murng, Sai, Nasir, Iman, Nejentsev, Sergey, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Richter, Alex, Samarghitean, Crina, Sargur, Ravishankar, Savic, Sinisa, Seneviratne, Suranjith, Sewall, Carrock, Shackley, Fiona, Simeoni, Ilenia, Smith, Kenneth G.C., Staples, Emily, Stauss, Hans, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Welch, Steve, Willcocks, Lisa, Workman, Sarita, Worth, Austen, Yeatman, Nigel, Yong, Patrick, Ashford, Sofie, Bradley, John, Fletcher, Debra, Hammerton, Tracey, James, Roger, Kingston, Nathalie, Ouwehand, Willem, Penkett, Christopher, Raymond, F Lucy, Stirrups, Kathleen, Veltman, Marijke, Young, Tim, Brown, Matthew, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Martin, Jennifer, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Haimel, Matthias, Hu, Fengyuan, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, Yu, Ping, von Ziegenweldt, Julie, Furnell, Abigail, Mapeta, Rutendo, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Rayner-Matthews, Paula, Watt, Christopher, Tuijnenburg, Paul, Burns, Siobhan O., Jansen, Machiel H., Carss, Keren J., Biasci, Daniele, Kiani-Alikhan, Sorena, Longhurst, Hilary J., Seneviratne, Suranjith L., de Bree, Godelieve J., Tool, Anton T.J., van Leeuwen, Ester M.M., Ebberink, Eduard H.T.M., Meijer, Alexander B., Thrasher, Adrian J., Thaventhiran, James E., Kuijpers, Taco W.

Source: In The Journal of Allergy and Clinical Immunology October 2018 142(4):1285-1296

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Authors: Hofmann, Inga, Geer, Mitchell J. ^*, Vögtle, Timo, Crispin, Andrew, Campagna, Dean R., Barr, Alastair, Calicchio, Monica L., Heising, Silke, van Geffen, Johanna P., Kuijpers, Marijke J.E., Heemskerk, Johan W.M., Eble, Johannes A., Schmitz-Abe, Klaus, Obeng, Esther A., Douglas, Michael, Freson, Kathleen, Pondarré, Corinne, Favier, Rémi, Jarvis, Gavin E., Markianos, Kyriacos, Turro, Ernest, Ouwehand, Willem H., Mazharian, Alexandra, Fleming, Mark D., Senis, Yotis A.

Source: In Blood 27 September 2018 132(13):1399-1412

Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome

Authors: Heremans, Jessica, Garcia-Perez, Josselyn E., Turro, Ernest, Schlenner, Susan M., Casteels, Ingele, Collin, Roxanne, de Zegher, Francis, Greene, Daniel, Humblet-Baron, Stephanie, Lesage, Sylvie, Matthys, Patrick, Penkett, Christopher J., Put, Karen, Stirrups, Kathleen, Thys, Chantal, Van Geet, Chris, Van Nieuwenhove, Erika, Wouters, Carine, Meyts, Isabelle, Freson, Kathleen, Liston, Adrian

Source: In The Journal of Allergy and Clinical Immunology August 2018 142(2):630-646

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

Authors: Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cookson, Victoria, Cooper, Nichola, Corris, Paul, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Dixon, Peter, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Graf, Stefan, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huis in’t Veld, Anna, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kuijpers, Taco, Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lango-Allen, Hana, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Louka, Eleni, Machado, Rajiv, Ross, Rob Mackenzie, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Othman, Shokri, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rayner-Matthews, Paula, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Roy, Noémi, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schotte, Gwen, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth G.C., Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stark, Hannah, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Watt, Christopher, Webster, ndrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Woods, Geoff, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Whitworth, James, Smith, Philip S., Martin, Jose-Ezequiel, West, Hannah, Luchetti, Andrea, Rodger, Faye, Clark, Graeme, Penkett, Chris, Shakeel, Hassan, Ahmed, Munaza, Adlard, Julian, Barwell, Julian, Brewer, Carole, Casey, Ruth T., Cole, Trevor, Evans, Dafydd Gareth, Fostira, Florentia, Greenhalgh, Lynn, Hanson, Helen, Henderson, Alex, Hoffman, Jonathan, Izatt, Louise, Kumar, Ajith, Kwong, Ava, Lalloo, Fiona, Ong, Kai Ren, Chen-Shtoyerman, Rakefet, Searle, Claire, Side, Lucy, Skytte, Anne-Bine, Snape, Katie, Woodward, Emma R., Tischkowitz, Marc D., Maher, Eamonn R.

Source: In The American Journal of Human Genetics 5 July 2018 103(1):3-18

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Authors: Schmidt, Axel, Danyel, Magdalena, Grundmann, Kathrin, Brunet, Theresa, Klinkhammer, Hannah, Hsieh, Tzung-Chien, Engels, Hartmut, Peters, Sophia, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Boschann, Felix, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Bösch, Annemarie, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kaindl, Angela M., Holzhauer, Susanne, Bührer, Christoph, Bufler, Philip, Kornak, Uwe, Ott, Claus-Eric, Schülke, Markus, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Grasemann, Corinna, Rothoeft, Tobias, Brinkmann, Folke, Matar, Nora, Sivalingam, Sugirthan, Perne, Claudia, Mangold, Elisabeth, Kreiss, Martina, Cremer, Kirsten, Betz, Regina C., Mücke, Martin, Grigull, Lorenz, Klockgether, Thomas, Spier, Isabel, Heimbach, André, Bender, Tim, Brand, Fabian, Stieber, Christiane, Morawiec, Alexandra Marzena, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Grobe-Einsler, Marcus, Kimmich, Okka, Kobeleva, Xenia, Önder, Demet, Lesmann, Hellen, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Incardona, Pietro, Lee-Kirsch, Min Ae, Berner, Reinhard, Schuetz, Catharina, Körholz, Julia, Kretschmer, Tanita, Di Donato, Nataliya, Schröck, Evelin, Heinen, André, Reuner, Ulrike, Hanßke, Amalia-Mihaela, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Kuechler, Alma, Cordula, Kiewert, Hirtz, Raphael, Schlapakow, Elena, Schlein, Christian, Lisfeld, Jasmin, Kubisch, Christian, Herget, Theresia, Hempel, Maja, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Rudolph, Cornelia, Rillig, Franziska, Groffmann, Maximilian, Muntau, Ania, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Kaufmann, Lilian, Hinderhofer, Katrin, Okun, Pamela M., Kotzaeridou, Urania, Hoffmann, Georg F., Choukair, Daniela, Bettendorf, Markus, Spielmann, Malte, Ripke, Annekatrin, Pauly, Martje, Münchau, Alexander, Lohmann, Katja, Hüning, Irina, Hanker, Britta, Bäumer, Tobias, Herzog, Rebecca, Hellenbroich, Yorck, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Graf, Elisabeth, Brugger, Melanie, Hoefele, Julia, Oexle, Konrad, Mirza-Schreiber, Nazanin, Berutti, Riccardo, Schatz, Ulrich, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Rohlfs, Meino, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Müller-Felber, Wolfgang, Kurth, Ingo, Elbracht, Miriam, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Platzer, Konrad, Strehlow, Vincent, Abou Jamra, Rami, Kehrer, Martin, Demidov, German, Beck-Wödl, Stefanie, Graessner, Holm, Sturm, Marc, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Kaiser, Nadja, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Mundlos, Stefan, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias, Ehmke, Nadja, Wagner, Matias

Source: Nature Genetics; August 2024, Vol. 56 Issue: 8 p1644-1653, 10p

A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases

Authors: Greene, Daniel, Richardson, Sylvia, Turro, Ernest

Source: In The American Journal of Human Genetics 6 July 2017 101(1):104-114

Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder

Authors: Accogli, Andrea, Park, Young N., Lenk, Guy M., Severino, Mariasavina, Scala, Marcello, Denecke, Jonas, Hempel, Maja, Lessel, Davor, Kortüm, Fanny, Salpietro, Vincenzo, de Marco, Patrizia, Guerrisi, Sara, Torella, Annalaura, Nigro, Vincenzo, Srour, Myriam, Turro, Ernest, Labarque, Veerle, Freson, Kathleen, Piatelli, Gianluca, Capra, Valeria, Kitzman, Jacob O., Meisler, Miriam H.

Source: In Genetics in Medicine May 2024 26(5)

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Authors: Aitman, Timothy, Alachkar, Hana, Ali, Sonia, Allen, Louise, Allsup, David, Ambegaonkar, Gautum, Anderson, Julie, Antrobus, Richard, Armstrong, Ruth, Arno, Gavin, Arumugakani, Gururaj, Ashford, Sofie, Astle, William, Attwood, Antony, Austin, Steve, Bacchelli, Chiara, Bakchoul, Tamam, Bariana, Tadbir K., Baxendale, Helen, Bennett, David, Bethune, Claire, Bibi, Shahnaz, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Bolton-Maggs, Paula, Booth, Claire, Bradley, John R., Brady, Angie, Brown, Matthew, Browning, Michael, Bryson, Christine, Burns, Siobhan, Calleja, Paul, Canham, Natalie, Carmichael, Jenny, Carss, Keren, Caulfield, Mark, Chalmers, Elizabeth, Chandra, Anita, Chinnery, Patrick, Chitre, Manali, Church, Colin, Clement, Emma, Clements-Brod, Naomi, Clowes, Virginia, Coghlan, Gerry, Collins, Peter, Cooper, Nichola, Creaser-Myers, Amanda, DaCosta, Rosa, Daugherty, Louise, Davies, Sophie, Davis, John, De Vries, Minka, Deegan, Patrick, Deevi, Sri V.V., Deshpande, Charu, Devlin, Lisa, Dewhurst, Eleanor, Doffinger, Rainer, Dormand, Natalie, Drewe, Elizabeth, Edgar, David, Egner, William, Erber, Wendy N., Erwood, Marie, Everington, Tamara, Favier, Remi, Firth, Helen, Fletcher, Debra, Flinter, Frances, Fox, James C., Frary, Amy, Freson, Kathleen, Furie, Bruce, Furnell, Abigail, Gale, Daniel, Gardham, Alice, Gattens, Michael, Ghali, Neeti, Ghataorhe, Pavandeep K., Ghurye, Rohit, Gibbs, Simon, Gilmour, Kimberley, Gissen, Paul, Goddard, Sarah, Gomez, Keith, Gordins, Pavel, Gräf, Stefan, Greene, Daniel, Greenhalgh, Alan, Greinacher, Andreas, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Haimel, Matthias, Halmagyi, Csaba, Hammerton, Tracey, Hart, Daniel, Hayman, Grant, Heemskerk, Johan W.M., Henderson, Robert, Hensiek, Anke, Henskens, Yvonne, Herwadkar, Archana, Holden, Simon, Holder, Muriel, Holder, Susan, Hu, Fengyuan, Huissoon, Aarnoud, Humbert, Marc, Hurst, Jane, James, Roger, Jolles, Stephen, Josifova, Dragana, Kazmi, Rashid, Keeling, David, Kelleher, Peter, Kelly, Anne M., Kennedy, Fiona, Kiely, David, Kingston, Nathalie, Koziell, Ania, Krishnakumar, Deepa, Kuijpers, Taco W., Kumararatne, Dinakantha, Kurian, Manju, Laffan, Michael A., Lambert, Michele P., Allen, Hana Lango, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Liesner, Ri, Linger, Rachel, Longhurst, Hilary, Lorenzo, Lorena, Machado, Rajiv, Mackenzie, Rob, MacLaren, Robert, Maher, Eamonn, Maimaris, Jesmeen, Mangles, Sarah, Manson, Ania, Mapeta, Rutendo, Markus, Hugh S., Martin, Jennifer, Masati, Larahmie, Mathias, Mary, Matser, Vera, Maw, Anna, McDermott, Elizabeth, McJannet, Coleen, Meacham, Stuart, Meehan, Sharon, Megy, Karyn, Mehta, Sarju, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Morrell, Nicholas, Mumford, Andrew, Murng, Sai, Murphy, Elaine, Nejentsev, Sergey, Noorani, Sadia, Nurden, Paquita, Oksenhendler, Eric, Ouwehand, Willem H., Papadia, Sofia, Park, Soo-Mi, Parker, Alasdair, Pasi, John, Patch, Chris, Paterson, Joan, Payne, Jeanette, Peacock, Andrew, Peerlinck, Kathelijne, Penkett, Christopher J., Pepke-Zaba, Joanna, Perry, David J., Pollock, Val, Polwarth, Gary, Ponsford, Mark, Qasim, Waseem, Quinti, Isabella, Rankin, Stuart, Rankin, Julia, Raymond, F. Lucy, Rehnstrom, Karola, Reid, Evan, Rhodes, Christopher J., Richards, Michael, Richardson, Sylvia, Richter, Alex, Roberts, Irene, Rondina, Matthew, Rosser, Elisabeth, Roughley, Catherine, Rue-Albrecht, Kevin, Samarghitean, Crina, Sanchis-Juan, Alba, Sandford, Richard, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Schulman, Sol, Schulze, Harald, Scott, Richard, Scully, Marie, Seneviratne, Suranjith, Sewell, Carrock, Shamardina, Olga, Shipley, Debbie, Simeoni, Ilenia, Sivapalaratnam, Suthesh, Smith, Kenneth, Sohal, Aman, Southgate, Laura, Staines, Simon, Staples, Emily, Stauss, Hans, Stein, Penelope, Stephens, Jonathan, Stirrups, Kathleen, Stock, Sophie, Suntharalingam, Jay, Tait, R. Campbell, Talks, Kate, Tan, Yvonne, Thachil, Jecko, Thaventhiran, James, Thomas, Ellen, Thomas, Moira, Thompson, Dorothy, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Toh, Cheng-Hock, Toshner, Mark, Treacy, Carmen, Trembath, Richard, Tuna, Salih, Turek, Wojciech, Turro, Ernest, Van Geet, Chris, Veltman, Marijke, Vogt, Julie, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Warner, Timothy Q., Wassmer, Evangeline, Watkins, Hugh, Webster, Andrew, Welch, Steve, Westbury, Sarah, Wharton, John, Whitehorn, Deborah, Wilkins, Martin, Willcocks, Lisa, Williamson, Catherine, Woods, Geoffrey, Wort, John, Yeatman, Nigel, Yong, Patrick, Young, Tim, Yu, Ping, Carss, Keren J., Hull, Sarah, Malka, Samantha, Plagnol, Vincent, Penkett, Christopher, Rizzo, Roberta, Wright, Genevieve, Scott, Richard H., Brady, Angela F., Henderson, Robert H.H., MacLaren, Robert E., Thompson, Dorothy A., Moore, Anthony T., Webster, Andrew R.

Source: In The American Journal of Human Genetics 5 January 2017 100(1):75-90

A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

Authors: Stritt, Simon ^*, Nurden, Paquita ^*, Turro, Ernest ^*, Greene, Daniel, Jansen, Sjoert B., Westbury, Sarah K., Petersen, Romina, Astle, William J., Marlin, Sandrine, Bariana, Tadbir K., Kostadima, Myrto, Lentaigne, Claire, Maiwald, Stephanie, Papadia, Sofia, Kelly, Anne M., Stephens, Jonathan C., Penkett, Christopher J., Ashford, Sofie, Tuna, Salih, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Favier, Rémi, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Mapeta, Rutendo, Perry, David J., Schulman, Sol, Simeoni, Ilenia, Thys, Chantal, Gomez, Keith, Erber, Wendy N., Stirrups, Kathleen, Rendon, Augusto, Bradley, John R., van Geet, Chris, Raymond, F.Lucy, Laffan, Michael A., Nurden, Alan T., Nieswandt, Bernhard, Richardson, Sylvia, Freson, Kathleen, Ouwehand, Willem H., Mumford, Andrew D.

Source: In Blood 9 June 2016 127(23):2903-2914