Quantifying the contribution of recessive coding variation to developmental disorders
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
Published in Science (American Association for the Advancement of Science) (07.12.2018)
Published in Science (American Association for the Advancement of Science) (07.12.2018)
Get full text
Journal Article
Rare genetic variants impact muscle strength
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
Published in Nature communications (10.06.2023)
Published in Nature communications (10.06.2023)
Get full text
Journal Article
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
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
Published in Nature neuroscience (01.04.2016)
Published in Nature neuroscience (01.04.2016)
Get full text
Journal Article
Contribution of retrotransposition to developmental disorders
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.
Published in Nature communications (11.10.2019)
Published in Nature communications (11.10.2019)
Get full text
Journal Article
Saturation genome editing of DDX3X clarifies pathogenicity of germline and somatic variation
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.
Published in Nature communications (06.12.2023)
Published in Nature communications (06.12.2023)
Get full text
Journal Article
Variant Library Annotation Tool (VaLiAnT): an oligonucleotide library design and annotation tool for saturation genome editing and other deep mutational scanning experiments
Barbon, Luca, Offord, Victoria, Radford, Elizabeth J, Butler, Adam P, Gerety, Sebastian S, Adams, David J, Tan, Hong Kee, Waters, Andrew J
Published in Bioinformatics (27.01.2022)
Published in Bioinformatics (27.01.2022)
Get full text
Journal Article
Saturation genome editing of BAP1 functionally classifies somatic and germline variants
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.
Published in Nature genetics (01.07.2024)
Published in Nature genetics (01.07.2024)
Get full text
Journal Article
Optimized whole-genome CRISPR interference screens identify ARID1A-dependent growth regulators in human induced pluripotent stem cells
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
Published in Stem cell reports (09.05.2023)
Published in Stem cell reports (09.05.2023)
Get full text
Journal Article
An inducible transgene expression system for zebrafish and chick
Gerety, Sebastian S, Breau, Marie A, Sasai, Noriaki, Xu, Qiling, Briscoe, James, Wilkinson, David G
Published in Development (Cambridge) (15.05.2013)
Published in Development (Cambridge) (15.05.2013)
Get full text
Journal Article
Differentiation of human induced pluripotent stem cells into cortical neural stem cells
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
Published in Frontiers in cell and developmental biology (05.01.2023)
Published in Frontiers in cell and developmental biology (05.01.2023)
Get full text
Journal Article
Pathogenicity and selective constraint on variation near splice sites
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
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
Get full text
Journal Article
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
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
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
Get full text
Journal Article
Valproic acid silencing of ascl1b/Ascl1 results in the failure of serotonergic differentiation in a zebrafish model of fetal valproate syndrome
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
Published in Disease models & mechanisms (01.01.2014)
Published in Disease models & mechanisms (01.01.2014)
Get full text
Journal Article
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans
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.
Published in American journal of human genetics (03.04.2014)
Published in American journal of human genetics (03.04.2014)
Get full text
Journal Article
Lunatic fringe promotes the lateral inhibition of neurogenesis
Nikolaou, Nikolas, Watanabe-Asaka, Tomomi, Gerety, Sebastian, Distel, Martin, Köster, Reinhard W, Wilkinson, David G
Published in Development (Cambridge) (01.08.2009)
Published in Development (Cambridge) (01.08.2009)
Get full text
Journal Article
Expression of EphrinB2 Identifies a Stable Genetic Difference Between Arterial and Venous Vascular Smooth Muscle as Well as Endothelial Cells, and Marks Subsets of Microvessels at Sites of Adult Neovascularization
Shin, Donghun, Garcia-Cardena, Guillermo, Hayashi, Shin-Ichiro, Gerety, Sebastian, Asahara, Takayuki, Stavrakis, George, Isner, Jeffrey, Folkman, Judah, Gimbrone, Michael A., Anderson, David J.
Published in Developmental biology (15.02.2001)
Published in Developmental biology (15.02.2001)
Get full text
Journal Article