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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Morpholino artifacts provide pitfalls and reveal a novel role for pro-apoptotic genes in hindbrain boundary development von Gerety, Sebastian S., Wilkinson, David G.

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Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation von Radford, Elizabeth J., Tan, Hong-Kee, Andersson, Malin H. L., Stephenson, James D., Gardner, Eugene J., Ironfield, Holly, Waters, Andrew J., Gitterman, Daniel, Lindsay, Sarah, Abascal, Federico, Martincorena, Iñigo, Kolesnik-Taylor, Anna, Ng-Cordell, Elise, Firth, Helen V., Baker, Kate, Perry, John R. B., Adams, David J., Gerety, Sebastian S., 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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Rare genetic variants impact muscle strength von Huang, Yunfeng, Bodnar, Dora, Chen, Chia-Yen, Sanchez-Andrade, Gabriela, Sanderson, Mark, Shi, Jun, Meilleur, Katherine G., Hurles, Matthew E., Gerety, Sebastian S., Tsai, Ellen A., Runz, Heiko

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Cardiovascular ephrinB2 function is essential for embryonic angiogenesis von Gerety, Sebastian S, Anderson, David J

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Symmetrical Mutant Phenotypes of the Receptor EphB4 and Its Specific Transmembrane Ligand ephrin-B2 in Cardiovascular Development von Gerety, Sebastian S, Wang, Hai U, Chen, Zhou-Feng, Anderson, David J

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Differentiation of human induced pluripotent stem cells into cortical neural stem cells von Neaverson, Alexandra, Andersson, Malin H L, Arshad, Osama A, Foulser, Luke, Goodwin-Trotman, Mary, Hunter, Adam, Newman, Ben, Patel, Minal, Roth, Charlotte, Thwaites, Tristan, Kilpinen, Helena, Hurles, Matthew E, Day, Andrew, Gerety, Sebastian S

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Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome von Jacob, John, Ribes, Vanessa, Moore, Steven, Constable, Sean C, Sasai, Noriaki, Gerety, Sebastian S, Martin, Darren J, Sergeant, Chris P, Wilkinson, David G, Briscoe, James

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Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders von Singh, Tarjinder, Kurki, Mitja I, Curtis, David, Purcell, Shaun M, Crooks, Lucy, McRae, Jeremy, Suvisaari, Jaana, Chheda, Himanshu, Blackwood, Douglas, Breen, Gerome, Pietiläinen, Olli, Gerety, Sebastian S, Ayub, Muhammad, Blyth, Moira, Cole, Trevor, Collier, David, Coomber, Eve L, Craddock, Nick, Daly, Mark J, Danesh, John, DiForti, Marta, Foster, Alison, Freimer, Nelson B, Geschwind, Daniel, Johnstone, Mandy, Joss, Shelagh, Kirov, Georg, Körkkö, Jarmo, Kuismin, Outi, Holmans, Peter, Hultman, Christina M, Iyegbe, Conrad, Lönnqvist, Jouko, Männikkö, Minna, McCarroll, Steve A, McGuffin, Peter, McIntosh, Andrew M, McQuillin, Andrew, Moilanen, Jukka S, Moore, Carmel, Murray, Robin M, Newbury-Ecob, Ruth, Ouwehand, Willem, Paunio, Tiina, Prigmore, Elena, Rees, Elliott, Roberts, David, Sambrook, Jennifer, Sklar, Pamela, Clair, David St, Veijola, Juha, Walters, James T R, Williams, Hywel, Sullivan, Patrick F, Hurles, Matthew E, O'Donovan, Michael C, Palotie, Aarno, Owen, Michael J, Barrett, Jeffrey C

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Variant Library Annotation Tool (VaLiAnT): an oligonucleotide library design and annotation tool for saturation genome editing and other deep mutational scanning experiments von Barbon, Luca, Offord, Victoria, Radford, Elizabeth J, Butler, Adam P, Gerety, Sebastian S, Adams, David J, Tan, Hong Kee, Waters, Andrew J

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Pathogenicity and selective constraint on variation near splice sites von Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E

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Saturation genome editing of BAP1 functionally classifies somatic and germline variants von Waters, Andrew J., Brendler-Spaeth, Timothy, Smith, Danielle, Offord, Victoria, Tan, Hong Kee, Zhao, Yajie, Obolenski, Sofia, Nielsen, Maartje, van Doorn, Remco, Murphy, Jo-Ellen, Gupta, Prashant, Rowlands, Charlie F., Hanson, Helen, Delage, Erwan, Thomas, Mark, Radford, Elizabeth J., Gerety, Sebastian S., Turnbull, Clare, Perry, John R. B., Hurles, Matthew E., Adams, David J.

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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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Loss of ADAMTS19 causes progressive non-syndromic heart valve disease von Wünnemann, Florian, Ta-Shma, Asaf, Preuss, Christoph, Leclerc, Severine, van Vliet, Patrick Piet, Oneglia, Andrea, Thibeault, Maryse, Nordquist, Emily, Lincoln, Joy, Scharfenberg, Franka, Becker-Pauly, Christoph, Hofmann, Philipp, Hoff, Kirstin, Audain, Enrique, Kramer, Hans-Heiner, Makalowski, Wojciech, Nir, Amiram, Gerety, Sebastian S., Hurles, Matthew, Comes, Johanna, Fournier, Anne, Osinska, Hanna, Robins, Jeffrey, Pucéat, Michel, Elpeleg, Orly, Hitz, Marc-Phillip, Andelfinger, Gregor

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans von Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Louw, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.

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Optimized whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells von Usluer, Sunay, Hallast, Pille, Crepaldi, Luca, Zhou, Yan, Urgo, Katie, Dincer, Cansu, Su, Jing, Noell, Guillaume, Alasoo, Kaur, El Garwany, Omar, Gerety, Sebastian S., Newman, Ben, Dovey, Oliver M., Parts, Leopold

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Signalling from hindbrain boundaries regulates neuronal clustering that patterns neurogenesis von Terriente, Javier, Gerety, Sebastian S, Watanabe-Asaka, Tomomi, Gonzalez-Quevedo, Rosa, Wilkinson, David G

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An inducible transgene expression system for zebrafish and chick von Gerety, Sebastian S, Breau, Marie A, Sasai, Noriaki, Xu, Qiling, Briscoe, James, Wilkinson, David G

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Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans von Al Turki, Saeed, Manickaraj, Ashok K., Mercer, Catherine L., Gerety, Sebastian S., Hitz, Marc-Phillip, Lindsay, Sarah, D’Alessandro, Lisa C.A., Swaminathan, G. Jawahar, Bentham, Jamie, Arndt, Anne-Karin, Low, Jacoba, Breckpot, Jeroen, Gewillig, Marc, Thienpont, Bernard, Abdul-Khaliq, Hashim, Harnack, Christine, Hoff, Kirstin, Kramer, Hans-Heiner, Schubert, Stephan, Siebert, Reiner, Toka, Okan, Cosgrove, Catherine, Watkins, Hugh, Lucassen, Anneke M., O’Kelly, Ita M., Salmon, Anthony P., Bu’Lock, Frances A., Granados-Riveron, Javier, Setchfield, Kerry, Thornborough, Chris, Brook, J. David, Mulder, Barbara, Klaassen, Sabine, Bhattacharya, Shoumo, Devriendt, Koen, FitzPatrick, David R., Wilson, David I., Mital, Seema, Hurles, Matthew E.

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