Variant detection sensitivity and biases in whole genome and exome sequencing

by Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Published 2014

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF

by Nolen, Leisha D., Boyle, Shelagh, Ansari, Morad, Pritchard, Emily, Bickmore, Wendy A.
Published 2013

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

by Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R
Published 2013

BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome

by 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 Nat Genet (2018)

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

by 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 2014

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence

by Gordon, Christopher T., Attanasio, Catia, Bhatia, Shipra, Benko, Sabina, Ansari, Morad, Tan, Tiong Y., Munnich, Arnold, Pennacchio, Len A., Abadie, Véronique, Temple, I. Karen, Goldenberg, Alice, van Heyningen, Veronica, Amiel, Jeanne, FitzPatrick, David, Kleinjan, Dirk A., Visel, Axel, Lyonnet, Stanislas
Published in Hum Mutat (2014)

Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

by Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.
Published 2014

NAA10 polyadenylation signal variants cause syndromic microphthalmia

by Johnston, Jennifer J, Williamson, Kathleen A, Chou, Christopher M, Sapp, Julie C, Ansari, Morad, Chapman, Heather M, Cooper, David N, Dabir, Tabib, Dudley, Jeffrey N, Holt, Richard J, Ragge, Nicola K, Schäffer, Alejandro A, Sen, Shurjo K, Salvotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme CM, Biesecker, Leslie G
Published in J Med Genet (2019)

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

by Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F
Published in Eur J Hum Genet (2017)

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

by Ansari, Morad, Mckeigue, Paul M., Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R.W., Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A., Van Duijn, Cornelia M., Campbell, Susan, Stanton, Chloe M., Huffman, Jennifer, Shu, Xinhua, Khan, Jane C., Shahid, Humma, Harding, Simon P., Bishop, Paul N., Deary, Ian J., Moore, Anthony T., Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F., Sim, Robert B., Hastie, Nicholas D., Campbell, Harry, Wright, Alan F.
Published 2013

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

by 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 Nat Genet (2015)

A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

by Reijns, Martin A. M., Thompson, Louise, Acosta, Juan Carlos, Black, Holly A., Sanchez-Luque, Francisco J., Diamond, Austin, Parry, David A., Daniels, Alison, O'Shea, Marie, Uggenti, Carolina, Sanchez, Maria C., O'Callaghan, Alan, McNab, Michelle L. L., Adamowicz, Martyna, Friman, Elias T., Hurd, Toby, Jarman, Edward J., Chee, Frederic Li Mow, Rainger, Jacqueline K., Walker, Marion, Drake, Camilla, Longman, Dasa, Mordstein, Christine, Warlow, Sophie J., McKay, Stewart, Slater, Louise, Ansari, Morad, Tomlinson, Ian P. M., Moore, David, Wilkinson, Nadine, Shepherd, Jill, Templeton, Kate, Johannessen, Ingolfur, Tait-Burkard, Christine, Haas, Jürgen G., Gilbert, Nick, Adams, Ian R., Jackson, Andrew P.
Published in PLoS Biol (2020)

Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease

by Carrasquillo, Minerva M., Belbin, Olivia, Zou, Fanggeng, Allen, Mariet, Ertekin-Taner, Nilufer, Ansari, Morad, Wilcox, Samantha L., Kashino, Mariah R., Ma, Li, Younkin, Linda H., Younkin, Samuel G., Younkin, Curtis S., Dincman, Toros A., Howard, Melissa E., Howell, Chanley C., Stanton, Chloe M., Watson, Christopher M., Crump, Michael, Vitart, Veronique, Hayward, Caroline, Hastie, Nicholas D., Rudan, Igor, Campbell, Harry, Polasek, Ozren, Brown, Kristelle, Passmore, Peter, Craig, David, McGuinness, Bernadette, Todd, Stephen, Kehoe, Patrick G., Mann, David M., Smith, A. David, Beaumont, Helen, Warden, Donald, Holmes, Clive, Heun, Reinhard, Kölsch, Heike, Kalsheker, Noor, Pankratz, V. Shane, Dickson, Dennis W., Graff-Radford, Neill R., Petersen, Ronald C., Wright, Alan F., Younkin, Steven G., Morgan, Kevin
Published 2010

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

by Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.
Published in PLoS One (2016)

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

by 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 2014

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

by 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 Nat Genet (2017)

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

by Kaiser, Frank J., Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J., Fincher, Christopher T., Kaur, Maninder, Bando, Masashige, Amor, David J., Atwal, Paldeep S., Bahlo, Melanie, Bowman, Christine M., Bradley, Jacquelyn J., Brunner, Han G., Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A., Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C., Francey, Lauren J., Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D., Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M., Yntema, Helger, Innes, A. Micheil, Kline, Antonie D., Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B., Mannini, Linda, Mckee, Shane, Mehta, Sarju G., Micule, Ieva, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R., Moser, Joe-Ann S., Noon, Sarah E., Nozaki, Naohito, Nunes, Luis, Pappas, John G., Penney, Lynette S., Pérez-Aytés, Antonio, Petersen, Michael B., Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E., Schindeler, Karen L., Siu, Victoria M., Stark, Zornitza, Strom, Samuel P., Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C., Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J., Jackson, Laird G., Shirahige, Katsuhiko, Pié, Juan, Christianson, David W., Krantz, Ian D., Fitzpatrick, David R., Deardorff, Matthew A.
Published 2014