Mapping the temporal and spatial dynamics of the human endometrium in vivo and in vitro von Garcia-Alonso, Luz, Handfield, Louis-François, Roberts, Kenny, Nikolakopoulou, Konstantina, Fernando, Ridma C., Gardner, Lucy, Woodhams, Benjamin, Arutyunyan, Anna, Polanski, Krzysztof, Hoo, Regina, Sancho-Serra, Carmen, Li, Tong, Kwakwa, Kwasi, Tuck, Elizabeth, Lorenzi, Valentina, Massalha, Hassan, Prete, Martin, Kleshchevnikov, Vitalii, Tarkowska, Aleksandra, Porter, Tarryn, Mazzeo, Cecilia Icoresi, van Dongen, Stijn, Dabrowska, Monika, Vaskivskyi, Vasyl, Mahbubani, Krishnaa T., Park, Jong-eun, Jimenez-Linan, Mercedes, Campos, Lia, Kiselev, Vladimir Yu, Lindskog, Cecilia, Ayuk, Paul, Prigmore, Elena, Stratton, Michael R., Saeb-Parsy, Kourosh, Moffett, Ashley, Moore, Luiza, Bayraktar, Omer A., Teichmann, Sarah A., Turco, Margherita Y., Vento-Tormo, Roser

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Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study von Lord, Jenny, McMullan, Dominic J, Eberhardt, Ruth Y, Rinck, Gabriele, Hamilton, Susan J, Quinlan-Jones, Elizabeth, Prigmore, Elena, Carey, Georgina K, Mellis, Rhiannon, Robart, Sarah, Berry, Ian R, Chandler, Kate E, Cilliers, Deirdre, Cresswell, Lara, Edwards, Sandra L, Gardiner, Carol, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Lester, Tracy, Newbury-Ecob, Ruth, Prescott, Katrina, Quarrell, Oliver W, Ramsden, Simon C, Roberts, Eileen, Tapon, Dagmar, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Parker, Michael, Williams, Denise, Jenkins, Lucy, Scott, Richard H, Kilby, Mark D, Chitty, Lyn S, Hurles, Matthew E, Maher, Eamonn R, Bateman, Mark, Best, Sunayna K, Campbell, Carolyn, Carey, Georgina, Chitty, Lyn S, Cilliers, Deirdre, Cohen, Kelly, Collingwood, Emma, Constantinou, Panayiotis, Cresswell, Lara, Delmege, Catherine, Edwards, Sandra L, Ellis, Richard, Evans, Jerry, Everett, Thomas, Pinto, Clare F, Forrester, Natalie, Fowler, Emma, Gardiner, Carol, Hamilton, Susan, Healey, Karen, Henderson, Alex, Holden, Simon T, Homfray, Tessa, Hudson, Rebecca, Hurles, Matthew E, Jenkins, Lucy, Keelagher, Rebecca, Kilby, Mark D, Lester, Tracey, Lewis, Rebecca, Lord, Jenny, Maher, Eamonn R, Marton, Tamas, McMullan, Dominic J, Mehta, Sarju, Mellis, Rhiannon, Newbury-Ecob, Ruth, Park, Soo-Mi, Parker, Michael, Prescott, Katrina, Prigmore, Elena, Quarrell, Oliver W, Quinlan-Jones, Elizabeth, Ramsden, Simon C, Rinck, Gabriele, Robart, Sarah, Roberts, Eileen, Rowland, Jayne, Steer, James, Tapon, Dagmar, Taylor, Emma J, Tooley, Madeleine J, Vasudevan, Pradeep C, Weber, Astrid P, Wellesley, Diana G, Westwood, Paul, White, Helen, Williams, Denise, Wilson, Elizabeth

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Local and systemic responses to SARS-CoV-2 infection in children and adults von Yoshida, Masahiro, Worlock, Kaylee B., Huang, Ni, Lindeboom, Rik G. H., Butler, Colin R., Kumasaka, Natsuhiko, Dominguez Conde, Cecilia, Mamanova, Lira, Bolt, Liam, Richardson, Laura, Polanski, Krzysztof, Madissoon, Elo, Barnes, Josephine L., Allen-Hyttinen, Jessica, Kilich, Eliz, Jones, Brendan C., de Wilton, Angus, Wilbrey-Clark, Anna, Sungnak, Waradon, Pett, J. Patrick, Weller, Juliane, Prigmore, Elena, Yung, Henry, Mehta, Puja, Saleh, Aarash, Saigal, Anita, Chu, Vivian, Cohen, Jonathan M., Cane, Clare, Iordanidou, Aikaterini, Shibuya, Soichi, Reuschl, Ann-Kathrin, Herczeg, Iván T., Argento, A. Christine, Wunderink, Richard G., Smith, Sean B., Poor, Taylor A., Gao, Catherine A., Dematte, Jane E., Reynolds, Gary, Haniffa, Muzlifah, Bowyer, Georgina S., Coates, Matthew, Clatworthy, Menna R., Calero-Nieto, Fernando J., Göttgens, Berthold, O’Callaghan, Christopher, Sebire, Neil J., Jolly, Clare, De Coppi, Paolo, Smith, Claire M., Misharin, Alexander V., Janes, Sam M., Teichmann, Sarah A., Nikolić, Marko Z., Meyer, Kerstin B.

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Single-cell roadmap of human gonadal development von Garcia-Alonso, Luz, Lorenzi, Valentina, Mazzeo, Cecilia Icoresi, Alves-Lopes, João Pedro, Roberts, Kenny, Sancho-Serra, Carmen, Engelbert, Justin, Marečková, Magda, Gruhn, Wolfram H., Botting, Rachel A., Li, Tong, Crespo, Berta, van Dongen, Stijn, Kiselev, Vladimir Yu, Prigmore, Elena, Herbert, Mary, Moffett, Ashley, Chédotal, Alain, Bayraktar, Omer Ali, Surani, Azim, Haniffa, Muzlifah, Vento-Tormo, Roser

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Spatial multiomics map of trophoblast development in early pregnancy von Arutyunyan, Anna, Roberts, Kenny, Troulé, Kevin, Wong, Frederick C. K., Sheridan, Megan A., Kats, Ilia, Garcia-Alonso, Luz, Velten, Britta, Hoo, Regina, Ruiz-Morales, Elias R., Sancho-Serra, Carmen, Shilts, Jarrod, Handfield, Louis-Francois, Marconato, Luca, Tuck, Elizabeth, Gardner, Lucy, Mazzeo, Cecilia Icoresi, Li, Qian, Kelava, Iva, Wright, Gavin J., Prigmore, Elena, Teichmann, Sarah A., Bayraktar, Omer Ali, Moffett, Ashley, Stegle, Oliver, Turco, Margherita Y., Vento-Tormo, Roser

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data von Wright, Caroline F, Dr, Fitzgerald, Tomas W, MS, Jones, Wendy D, MBBS, Clayton, Stephen, MRes, McRae, Jeremy F, PhD, van Kogelenberg, Margriet, PhD, King, Daniel A, MD, Ambridge, Kirsty, BSc, Barrett, Daniel M, BSc, Bayzetinova, Tanya, BSc, Bevan, A Paul, PhD, Bragin, Eugene, MSc, Chatzimichali, Eleni A, PhD, Gribble, Susan, PhD, Jones, Philip, MSc, Krishnappa, Netravathi, MSc, Mason, Laura E, BSc, Miller, Ray, PhD, Morley, Katherine I, PhD, Parthiban, Vijaya, PhD, Prigmore, Elena, PhD, Rajan, Diana, MSc, Sifrim, Alejandro, PhD, Swaminathan, G Jawahar, PhD, Tivey, Adrian R, MSc, Middleton, Anna, PhD, Parker, Michael, Prof, Carter, Nigel P, PhD, Barrett, Jeffrey C, PhD, Hurles, Matthew E, PhD, FitzPatrick, David R, Prof, Firth, Helen V, DM

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Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing von Sifrim, Alejandro, Hitz, Marc-Phillip, Wilsdon, Anna, Breckpot, Jeroen, Turki, Saeed H Al, Thienpont, Bernard, McRae, Jeremy, Fitzgerald, Tomas W, Singh, Tarjinder, Swaminathan, Ganesh Jawahar, Prigmore, Elena, Rajan, Diana, Abdul-Khaliq, Hashim, Banka, Siddharth, Bauer, Ulrike M M, Bentham, Jamie, Berger, Felix, Bhattacharya, Shoumo, Bu'Lock, Frances, Canham, Natalie, Colgiu, Irina-Gabriela, Cosgrove, Catherine, Cox, Helen, Daehnert, Ingo, Daly, Allan, Danesh, John, Fryer, Alan, Gewillig, Marc, Hobson, Emma, Hoff, Kirstin, Homfray, Tessa, Kahlert, Anne-Karin, Ketley, Ami, Kramer, Hans-Heiner, Lachlan, Katherine, Lampe, Anne Katrin, Louw, Jacoba J, Manickara, Ashok Kumar, Manase, Dorin, McCarthy, Karen P, Metcalfe, Kay, Moore, Carmel, Newbury-Ecob, Ruth, Omer, Seham Osman, Ouwehand, Willem H, Park, Soo-Mi, Parker, Michael J, Pickardt, Thomas, Pollard, Martin O, Robert, Leema, Roberts, David J, Sambrook, Jennifer, Setchfield, Kerry, Stiller, Brigitte, Thornborough, Chris, Toka, Okan, Watkins, Hugh, Williams, Denise, Wright, Michael, Mital, Seema, Daubeney, Piers E F, Keavney, Bernard, Goodship, Judith, Abu-Sulaiman, Riyadh Mahdi, Klaassen, Sabine, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Devriendt, Koenraad, FitzPatrick, David R, Brook, J David, Hurles, Matthew E

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Quantifying the contribution of recessive coding variation to developmental disorders von Martin, Hilary C, Jones, Wendy D, McIntyre, Rebecca, Sanchez-Andrade, Gabriela, Sanderson, Mark, Stephenson, James D, Jones, Carla P, Handsaker, Juliet, Gallone, Giuseppe, Bruntraeger, Michaela, McRae, Jeremy F, Prigmore, Elena, Short, Patrick, Niemi, Mari, Kaplanis, Joanna, Radford, Elizabeth J, Akawi, Nadia, Balasubramanian, Meena, Dean, John, Horton, Rachel, Hulbert, Alice, Johnson, Diana S, Johnson, Katie, Kumar, Dhavendra, Lynch, Sally Ann, Mehta, Sarju G, Morton, Jenny, Parker, Michael J, Splitt, Miranda, Turnpenny, Peter D, Vasudevan, Pradeep C, Wright, Michael, Bassett, Andrew, Gerety, Sebastian S, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Hurles, Matthew E, Barrett, Jeffrey C

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Single-cell transcriptomics reveals a distinct developmental state of KMT2A-rearranged infant B-cell acute lymphoblastic leukemia von Khabirova, Eleonora, Jardine, Laura, Coorens, Tim H. H., Webb, Simone, Treger, Taryn D., Engelbert, Justin, Porter, Tarryn, Prigmore, Elena, Collord, Grace, Piapi, Alice, Teichmann, Sarah A., Inglott, Sarah, Williams, Owen, Heidenreich, Olaf, Young, Matthew D., Straathof, Karin, Bomken, Simon, Bartram, Jack, Haniffa, Muzlifah, Behjati, Sam

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Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants von Feuk, Lars, Pinto, Dalila, Darvishi, Katayoon, Shi, Xinghua, Rajan, Diana, Rigler, Diane, Fitzgerald, Tom, Lionel, Anath C, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R, Mills, Ryan, Prasad, Aparna, Noonan, Kristin, Gribble, Susan, Prigmore, Elena, Donahoe, Patricia K, Smith, Richard S, Park, Ji Hyeon, Hurles, Matthew E, Carter, Nigel P, Lee, Charles, Scherer, Stephen W

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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families von Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E

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Contribution of retrotransposition to developmental disorders von Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.

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COVID-19 progression and convalescence in common variable immunodeficiency patients show dysregulated adaptive immune responses and persistent type I interferon and inflammasome ac... von Rodríguez-Ubreva, Javier, Calafell-Segura, Josep, Calvillo, Celia L., Keller, Baerbel, Ciudad, Laura, Handfield, Louis-François, de la Calle-Fabregat, Carlos, Godoy-Tena, Gerard, Andrés-León, Eduardo, Hoo, Regina, Porter, Tarryn, Prigmore, Elena, Hofmann, Maike, Decker, Annegrit, Martín, Javier, Vento-Tormo, Roser, Warnatz, Klaus, Ballestar, Esteban

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HOX gene expression in the developing human spine von Lawrence, John E. G., Roberts, Kenny, Tuck, Elizabeth, Li, Tong, Mamanova, Lira, Balogh, Petra, Usher, Inga, Piapi, Alice, Mazin, Pavel, Anderson, Nathaniel D., Bolt, Liam, Richardson, Laura, Prigmore, Elena, He, Xiaoling, Barker, Roger A., Flanagan, Adrienne, Young, Matthew D., Teichmann, Sarah A., Bayraktar, Omer, Behjati, Sam

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Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations von Stankiewicz, Paweł, Sen, Partha, Bhatt, Samarth S., Storer, Mekayla, Xia, Zhilian, Bejjani, Bassem A., Ou, Zhishuo, Wiszniewska, Joanna, Driscoll, Daniel J., Bolivar, Juan, Bauer, Mislen, Zackai, Elaine H., McDonald-McGinn, Donna, Nowaczyk, Małgorzata M.J., Murray, Mitzi, Shaikh, Tamim H., Martin, Vicki, Tyreman, Matthew, Simonic, Ingrid, Willatt, Lionel, Paterson, Joan, Mehta, Sarju, Rajan, Diana, Fitzgerald, Tomas, Gribble, Susan, Prigmore, Elena, Patel, Ankita, Shaffer, Lisa G., Carter, Nigel P., Cheung, Sau Wai, Langston, Claire, Shaw-Smith, Charles

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Single cell derived mRNA signals across human kidney tumors von Young, Matthew D., Mitchell, Thomas J., Custers, Lars, Margaritis, Thanasis, Morales-Rodriguez, Francisco, Kwakwa, Kwasi, Khabirova, Eleonora, Kildisiute, Gerda, Oliver, Thomas R. W., de Krijger, Ronald R., van den Heuvel-Eibrink, Marry M., Comitani, Federico, Piapi, Alice, Bugallo-Blanco, Eva, Thevanesan, Christine, Burke, Christina, Prigmore, Elena, Ambridge, Kirsty, Roberts, Kenny, Braga, Felipe A. Vieira, Coorens, Tim H. H., Del Valle, Ignacio, Wilbrey-Clark, Anna, Mamanova, Lira, Stewart, Grant D., Gnanapragasam, Vincent J., Rampling, Dyanne, Sebire, Neil, Coleman, Nicholas, Hook, Liz, Warren, Anne, Haniffa, Muzlifah, Kool, Marcel, Pfister, Stefan M., Achermann, John C., He, Xiaoling, Barker, Roger A., Shlien, Adam, Bayraktar, Omer A., Teichmann, Sarah A., Holstege, Frank C., Meyer, Kerstin B., Drost, Jarno, Straathof, Karin, Behjati, Sam

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Transcriptional signals of transformation in human cancer von Kildisiute, Gerda, Kalyva, Maria, Elmentaite, Rasa, van Dongen, Stijn, Thevanesan, Christine, Piapi, Alice, Ambridge, Kirsty, Prigmore, Elena, Haniffa, Muzlifah, Teichmann, Sarah A, Straathof, Karin, Cortés-Ciriano, Isidro, Behjati, Sam, Young, Matthew D

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Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome von Gribble, Susan M, Wiseman, Frances K, Clayton, Stephen, Prigmore, Elena, Langley, Elizabeth, Yang, Fengtang, Maguire, Sean, Fu, Beiyuan, Rajan, Diana, Sheppard, Olivia, Scott, Carol, Hauser, Heidi, Stephens, Philip J, Stebbings, Lucy A, Ng, Bee Ling, Fitzgerald, Tomas, Quail, Michael A, Banerjee, Ruby, Rothkamm, Kai, Tybulewicz, Victor L J, Fisher, Elizabeth M C, Carter, Nigel P

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EYS , encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa von Barragan, Isabel, Shah, Amna, Mena, Marcela, Abd El-Aziz, Mai M, El-Ashry, Mohamed F, Cheetham, Michael E, Antinolo, Guillermo, O'Driscoll, Ciara A, Ponting, Chris P, Goodstadt, Leo, Pieras, Juan I, Prigmore, Elena, Safieh, Leen Abu, Chakarova, Christina, Borrego, Salud, Carter, Nigel P, Bhattacharya, Shomi S

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Precise identification of cancer cells from allelic imbalances in single cell transcriptomes von Trinh, Mi K., Pacyna, Clarissa N., Kildisiute, Gerda, Thevanesan, Christine, Piapi, Alice, Ambridge, Kirsty, Anderson, Nathaniel D., Khabirova, Eleonora, Prigmore, Elena, Straathof, Karin, Behjati, Sam, Young, Matthew D.

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