Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia
Bhatia, Shipra, Bengani, Hemant, Fish, Margaret, Brown, Alison, Divizia, Maria Teresa, de Marco, Riccardo, Damante, Guiseppe, Grainger, Robert, van Heyningen, Veronica, Kleinjan, Dirk A.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
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Journal Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Journal Article
Psip1/p52 regulates posterior Hoxa genes through activation of lncRNA Hottip
Pradeepa, Madapura M, McKenna, Fionnuala, Taylor, Gillian C A, Bengani, Hemant, Grimes, Graeme R, Wood, Andrew J, Bhatia, Shipra, Bickmore, Wendy A
Published in PLoS genetics (06.04.2017)
Published in PLoS genetics (06.04.2017)
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Journal Article
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
Bengani, Hemant, Grozeva, Detelina, Moyon, Lambert, Bhatia, Shipra, Louros, Susana R, Hope, Jilly, Jackson, Adam, Prendergast, James G, Owen, Liusaidh J, Naville, Magali, Rainger, Jacqueline, Grimes, Graeme, Halachev, Mihail, Murphy, Laura C, Spasic-Boskovic, Olivera, van Heyningen, Veronica, Kind, Peter, Abbott, Catherine M, Osterweil, Emily, Raymond, F Lucy, Roest Crollius, Hugues, FitzPatrick, David R
Published in PloS one (13.08.2021)
Published in PloS one (13.08.2021)
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Journal Article
FRA2A is a CGG repeat expansion associated with silencing of AFF3
Metsu, Sofie, Rooms, Liesbeth, Rainger, Jacqueline, Taylor, Martin S, Bengani, Hemant, Wilson, David I, Chilamakuri, Chandra Sekhar Reddy, Morrison, Harris, Vandeweyer, Geert, Reyniers, Edwin, Douglas, Evelyn, Thompson, Geoffrey, Haan, Eric, Gecz, Jozef, Fitzpatrick, David R, Kooy, R Frank
Published in PLoS genetics (01.04.2014)
Published in PLoS genetics (01.04.2014)
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Journal Article
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome
Naville, Magali, Ishibashi, Minaka, Ferg, Marco, Bengani, Hemant, Rinkwitz, Silke, Krecsmarik, Monika, Hawkins, Thomas A., Wilson, Stephen W., Manning, Elizabeth, Chilamakuri, Chandra S. R., Wilson, David I., Louis, Alexandra, Lucy Raymond, F., Rastegar, Sepand, Strähle, Uwe, Lenhard, Boris, Bally-Cuif, Laure, van Heyningen, Veronica, FitzPatrick, David R., Becker, Thomas S., Roest Crollius, Hugues
Published in Nature communications (24.04.2015)
Published in Nature communications (24.04.2015)
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Journal Article
Identification and Validation of a Putative Polycomb Responsive Element in the Human Genome
Bengani, Hemant, Mendiratta, Shweta, Maini, Jayant, Vasanthi, Dasari, Sultana, Hina, Ghasemi, Mohsen, Ahluwalia, Jasmine, Ramachandran, Sowmya, Mishra, Rakesh K, Brahmachari, Vani
Published in PloS one (21.06.2013)
Published in PloS one (21.06.2013)
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Journal Article
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome
Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R., Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Bickmore, Wendy A., Pradeepa, Madapura M., FitzPatrick, David R.
Published in Nature genetics (01.03.2018)
Published in Nature genetics (01.03.2018)
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Journal Article
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
Shaw, Natalie D, Brand, Harrison, Kupchinsky, Zachary A, Bengani, Hemant, Plummer, Lacey, Jones, Takako I, Erdin, Serkan, Williamson, Kathleen A, Rainger, Joe, Stortchevoi, Alexei, Samocha, Kaitlin, Currall, Benjamin B, Dunican, Donncha S, Collins, Ryan L, Willer, Jason R, Lek, Angela, Lek, Monkol, Nassan, Malik, Pereira, Shahrin, Kammin, Tammy, Lucente, Diane, Silva, Alexandra, Seabra, Catarina M, Chiang, Colby, An, Yu, Ansari, Morad, Rainger, Jacqueline K, Joss, Shelagh, Smith, Jill Clayton, Lippincott, Margaret F, Singh, Sylvia S, Patel, Nirav, Jing, Jenny W, Law, Jennifer R, Ferraro, Nalton, Verloes, Alain, Rauch, Anita, Steindl, Katharina, Zweier, Markus, Scheer, Ianina, Sato, Daisuke, Okamoto, Nobuhiko, Jacobsen, Christina, Tryggestad, Jeanie, Chernausek, Steven, Schimmenti, Lisa A, Brasseur, Benjamin, Cesaretti, Claudia, García-Ortiz, Jose E, Buitrago, Tatiana Pineda, Silva, Orlando Perez, Hoffman, Jodi D, Mühlbauer, Wolfgang, Ruprecht, Klaus W, Loeys, Bart L, Shino, Masato, Kaindl, Angela M, Cho, Chie-Hee, Morton, Cynthia C, Meehan, Richard R, van Heyningen, Veronica, Liao, Eric C, Balasubramanian, Ravikumar, Hall, Janet E, Seminara, Stephanie B, Macarthur, Daniel, Moore, Steven A, Yoshiura, Koh-ichiro, Gusella, James F, Marsh, Joseph A, Graham, John M, Lin, Angela E, Katsanis, Nicholas, Jones, Peter L, Crowley, William F, Davis, Erica E, FitzPatrick, David R, Talkowski, Michael E
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Journal Article
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R
Published in Journal of medical genetics (01.10.2014)
Published in Journal of medical genetics (01.10.2014)
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Journal Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Biallelic mutations in the gene encoding eEF1A2 cause seizures and sudden death in F0 mice
Davies, Faith C. J., Hope, Jilly E., McLachlan, Fiona, Nunez, Francis, Doig, Jennifer, Bengani, Hemant, Smith, Colin, Abbott, Catherine M.
Published in Scientific reports (05.04.2017)
Published in Scientific reports (05.04.2017)
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Journal Article
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability
Bengani, Hemant, Grozeva, Detelina, Moyon, Lambert, Bhatia, Shipra, Louros, Susana R, Hope, Jilly, Jackson, Adam, Prendergast, James G, Owen, Liusaidh J, Naville, Magali, Rainger, Jacqueline, Grimes, Graeme, Halachev, Mihail, Murphy, Laura C, Spasic-Boskovic, Olivera, van Heyningen, Veronica, Kind, Peter, Abbott, Catherine M., Osterweil, Emily, Raymond, F. Lucy, Crollius, Roest, Fitzpatrick, David R
Published in PloS one (2021)
Published in PloS one (2021)
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Journal Article
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Bengani, Hemant, Handley, Mark, Alvi, Mohsan, Ibitoye, Rita, Lees, Melissa, Lynch, Sally Ann, Lam, Wayne, Fannemel, Madeleine, Nordgren, Ann, Malmgren, H., Kvarnung, M., Mehta, Sarju, McKee, Shane, Whiteford, Margo, Stewart, Fiona, Connell, Fiona, Clayton-Smith, Jill, Mansour, Sahar, Mohammed, Shehla, Fryer, Alan, Morton, Jenny, Grozeva, Detelina, Asam, Tara, Moore, David, Sifrim, Alejandro, McRae, Jeremy, Hurles, Matthew E., Firth, Helen V., Raymond, F. Lucy, Kini, Usha, Nellåker, Christoffer, DDD study, FitzPatrick, David R.
Published in Genetics in medicine (01.08.2017)
Published in Genetics in medicine (01.08.2017)
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Journal Article
Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence
Rainger, Jacqueline K., Bhatia, Shipra, Bengani, Hemant, Gautier, Philippe, Rainger, Joe, Pearson, Matt, Ansari, Morad, Crow, Jayne, Mehendale, Felicity, Palinkasova, Bozena, Dixon, Michael J., Thompson, Pamela J., Matarin, Mar, Sisodiya, Sanjay M., Kleinjan, Dirk A., FitzPatrick, David R.
Published in Human molecular genetics (15.05.2014)
Published in Human molecular genetics (15.05.2014)
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Journal Article
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome
Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R., Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Bickmore, Wendy A., Pradeepa, Madapura M., FitzPatrick, David R.
Published in Nature genetics (01.07.2019)
Published in Nature genetics (01.07.2019)
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Journal Article
Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome
Olley, Gabrielle, Ansari, Morad, Bengani, Hemant, Grimes, Graeme R., Rhodes, James, von Kriegsheim, Alex, Blatnik, Ana, Stewart, Fiona J., Wakeling, Emma, Carroll, Nicola, Ross, Alison, Park, Soo-Mi, Bickmore, Wendy A., Pradeepa, Madapura M., FitzPatrick, David R.
Published in Nature genetics (01.05.2018)
Published in Nature genetics (01.05.2018)
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Journal Article
Robust Genetic Analysis of the X-Linked Anophthalmic ( Ie ) Mouse
Hernandez-Moran, Brianda A, Papanastasiou, Andrew S, Parry, David, Meynert, Alison, Gautier, Philippe, Grimes, Graeme, Adams, Ian R, Trejo-Reveles, Violeta, Bengani, Hemant, Keighren, Margaret, Jackson, Ian J, Adams, David J, FitzPatrick, David R, Rainger, Joe
Published in Genes (05.10.2022)
Published in Genes (05.10.2022)
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Journal Article
Miller (Genée―Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH
RAINGER, Joe, BENGANI, Hemant, MERCER, Catherine, MCKENZIE, Kathryn, LENGFELD, Tobias, QUEROKL, Blanca Gener, BRANNEY, Peter, MCKAY, Stewart, MORRISON, Harris, MEDINA, Bethan, ROBERTSON, Morag, KOHLHASE, Jurgen, CAMPBELL, Leigh, GORDON, Colin, KIRK, Jean, WIECZOREK, Dagmar, FITZPATRICK, David R, ANDERSON, Eve, SOKHI, Kishan, LAM, Wayne, RIESS, Angelika, ANSARI, Morad, SMITHSON, Sarah, LEES, Melissa
Published in Human molecular genetics (15.09.2012)
Published in Human molecular genetics (15.09.2012)
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