Variant detection sensitivity and biases in whole genome and exome sequencing
Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Published in BMC bioinformatics (19.07.2014)
Published in BMC bioinformatics (19.07.2014)
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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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Curating genomic disease-gene relationships with Gene2Phenotype (G2P)
Yates, T Michael, Ansari, Morad, Thompson, Louise, Hunt, Sarah E, Uhalte, Elena Cibrian, Hobson, Rachel J, Marsh, Joseph A, Wright, Caroline F, Firth, Helen V
Published in Genome medicine (06.11.2024)
Published in Genome medicine (06.11.2024)
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features
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 European journal of human genetics : EJHG (01.05.2017)
Published in European journal of human genetics : EJHG (01.05.2017)
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A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAX
Ansari, Morad, Rainger, Jacqueline K, Murray, Jennie E, Hanson, Isabel, Firth, Helen V, Mehendale, Felicity, Amiel, Jeanne, Gordon, Christopher T, Percesepe, Antonio, Mazzanti, Laura, Fryer, Alan, Ferrari, Paola, Devriendt, Koenraad, Temple, I. Karen, FitzPatrick, David R
Published in European journal of medical genetics (01.10.2014)
Published in European journal of medical genetics (01.10.2014)
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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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Should Scotland provide genome-wide sequencing for the diagnosis of rare developmental disorders? A cost-effectiveness analysis
Abbott, Michael, Ryan, Mandy, Hernández, Rodolfo, McKenzie, Lynda, Heidenreich, Sebastian, Hocking, Lynne, Clark, Caroline, Ansari, Morad, Moore, David, Lampe, Anne, McGowan, Ruth, Berg, Jonathan, Miedzybrodzka, Zosia
Published in The European journal of health economics (09.09.2024)
Published in The European journal of health economics (09.09.2024)
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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)
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Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome
Efthymiou, Stephanie, Scala, Marcello, Nagaraj, Vini, Ochenkowska, Katarzyna, Komdeur, Fenne L, Liang, Robin A, Abdel-Hamid, Mohamed S, Sultan, Tipu, Barøy, Tuva, Van Ghelue, Marijke, Vona, Barbara, Maroofian, Reza, Zafar, Faisal, Alkuraya, Fowzan S, Zaki, Maha S, Severino, Mariasavina, Duru, Kingsley C, Tryon, Robert C, Brauteset, Lin Vigdis, Ansari, Morad, Hamilton, Mark, van Haelst, Mieke M, van Haaften, Gijs, Zara, Federico, Houlden, Henry, Samarut, Éric, Nichols, Colin G, Smeland, Marie F, McClenaghan, Conor
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
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 in Human molecular genetics (01.06.2014)
Published in Human molecular genetics (01.06.2014)
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A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection
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 biology (15.12.2020)
Published in PLoS biology (15.12.2020)
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Genotypes and phenotypes of motor neuron disease: an update of the genetic landscape in Scotland
Leighton, Danielle J., Ansari, Morad, Newton, Judith, Cleary, Elaine, Stephenson, Laura, Beswick, Emily, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Gorrie, George H., Morrison, Ian, Swingler, Robert, Deary, Ian J., Porteous, Mary, Chandran, Siddharthan, Pal, Suvankar
Published in Journal of neurology (01.08.2024)
Published in Journal of neurology (01.08.2024)
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Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence
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 Human mutation (01.08.2014)
Published in Human mutation (01.08.2014)
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NAA10 polyadenylation signal variants cause syndromic microphthalmia
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, Slavotinek, Anne M, FitzPatrick, David R, Glaser, Thomas M, Stewart, Fiona, Black, Graeme CM, Biesecker, Leslie G
Published in Journal of medical genetics (01.07.2019)
Published in Journal of medical genetics (01.07.2019)
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Genotype–phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age
Moss, Joanna, Penhallow, Jessica, Ansari, Morad, Barton, Stephanie, Bourn, David, FitzPatrick, David R., Goodship, Judith, Hammond, Peter, Roberts, Catherine, Welham, Alice, Oliver, Chris
Published in American journal of medical genetics. Part A (01.06.2017)
Published in American journal of medical genetics. Part A (01.06.2017)
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Concordant association of insulin degrading enzyme gene (IDE) variants with IDE mRNA, Abeta, and Alzheimer's disease
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 in PloS one (19.01.2010)
Published in PloS one (19.01.2010)
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Genotype–phenotype characterisation of long survivors with motor neuron disease in Scotland
Leighton, Danielle J., Ansari, Morad, Newton, Judith, Parry, David, Cleary, Elaine, Colville, Shuna, Stephenson, Laura, Larraz, Juan, Johnson, Micheala, Beswick, Emily, Wong, Michael, Gregory, Jenna, Carod Artal, Javier, Davenport, Richard, Duncan, Callum, Morrison, Ian, Smith, Colin, Swingler, Robert, Deary, Ian J., Porteous, Mary, Aitman, Timothy J., Chandran, Siddharthan, Gorrie, George H., Pal, Suvankar
Published in Journal of neurology (01.03.2023)
Published in Journal of neurology (01.03.2023)
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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
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 in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome
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 (28.04.2016)
Published in PloS one (28.04.2016)
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