Ngā hua rapu - Morad Ansari

  • E whakaatu ana i te 1 - 19 hua o te 19
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  1. 1
    Variant detection sensitivity and biases in whole genome and exome sequencing

    Variant detection sensitivity and biases in whole genome and exome sequencing mā Alison Meynert, Morad Ansari, David Fitzpatrick, Martin S. Taylor

    I whakaputaina 2014
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  2. 2
    Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

    Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center mā Christina Gerth‐Kahlert, Kathleen A. Williamson, Morad Ansari, Jacqueline K. Rainger, V. Hingst, Theodor Zimmermann, Stefani Tech, Rudolf Guthoff, Veronica van Heyningen, David Fitzpatrick

    I whakaputaina 2013
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  3. 3
    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

    BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome mā Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R. Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J. Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo‐Mi Park, Wendy A. Bickmore, Madapura M. Pradeepa, David Fitzpatrick

    I whakaputaina 2018
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  4. 4
    Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence

    Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence mā Joe Rainger, Smita Bhatia, Hemant Bengani, Philippe Gautier, Joe Rainger, Matthew Pearson, Morad Ansari, Jesse C. Crow, Felicity V. Mehendale, Božena Pálinkášová, M. J. Dixon, Pamela J. Thompson, Mar Matarín, S. M. Sisodiya, D. A. Kleinjan, David Fitzpatrick

    I whakaputaina 2013
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  5. 5
    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence

    Identification of Novel Craniofacial Regulatory Domains Located far Upstream of<i>SOX9</i>and Disrupted in Pierre Robin Sequence mā Christopher T. Gordon, Catia Attanasio, Shipra Bhatia, Sabina Benko, Morad Ansari, Tiong Yang Tan, Arnold Münnich, L Pennacchio, Véronique Abadie, I. Karen Temple, Alice Goldenberg, Veronica van Heyningen, Jeanne Amiel, David Fitzpatrick, Dirk A. Kleinjan, Axel Visel, Stanislas Lyonnet

    I whakaputaina 2014
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  6. 6
    Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects

    Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects mā Kathleen A. Williamson, Joe Rainger, James Floyd, Morad Ansari, Alison Meynert, Kishan V. Aldridge, Jacqueline K. Rainger, Carl A. Anderson, Anthony T. Moore, Matthew E. Hurles, Angus Clarke, Veronica van Heyningen, Alain Verloès, Martin S. Taylor, Andrew O.M. Wilkie, David Fitzpatrick

    I whakaputaina 2014
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  7. 7
    <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia

    <i>NAA10</i> polyadenylation signal variants cause syndromic microphthalmia mā Jennifer J. Johnston, Kathleen A. Williamson, Christopher M. Chou, Julie C. Sapp, Morad Ansari, Heather Chapman, D.N. Cooper, Tabib Dabir, Jeffrey N. Dudley, Richard Holt, Nicola Ragge, Alejandro A. Schäffer, Shurjo K. Sen, Anne Slavotinek, David Fitzpatrick, Thomas Gläser, Fiona Stewart, Graeme Black, Leslie G. Biesecker

    I whakaputaina 2019
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  8. 8
    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

    Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH mā Joe Rainger, Hemant Bengani, Lauren Campbell, Eric C. Anderson, K. Sokhi, Wayne Lam, Angelika Rieß, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn J. McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, S. McKay, Hilary G. Morrison, Bethan Medina, Marcus Robertson, Jürgen Kohlhase, Christopher T. Gordon, J M Kirk, Dagmar Wieczorek, David Fitzpatrick

    I whakaputaina 2012
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  9. 9
    PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

    PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features mā Karen Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David Fitzpatrick, Mark Greenslade, Alex Henderson, Jane A. Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja Kristine Selmer, Michael C. Schneider, Fiona Stewart, Katrina Tatton‐Brown, Julien Thévenon, Magnus Dehli Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D.D.D. Study, Sarah Smithson

    I whakaputaina 2017
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  10. 10
    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome

    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome mā Stéphanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang, Mohamed S. Abdel‐Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S. Alkuraya, Maha S. Zaki, Mariasavina Severino, Kingsley C. Duru, Robert C. Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M. van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G. Nichols, Marie Falkenberg Smeland, Conor McClenaghan

    I whakaputaina 2024
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  11. 11
    Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

    Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration mā Morad Ansari, Paul McKeigue, Christine Skerka, Caroline Hayward, Igor Rudan, Véronique Vitart, Ozren Polašek, Ana-Maria Armbrecht, John R.W. Yates, Zoran Vatavuk, Goran Benčić, Ivana Kolčić, Ben A. Oostra, Cornelia M. van Duijn, Susan Campbell, Chloë M. Stanton, Jennifer E. Huffman, Xinhua Shu, Jane C. Khan, Humma Shahid, Simon Harding, Paul N. Bishop, Ian J. Deary, Anthony T. Moore, Baljean Dhillon, Pavao Rudan, Peter F. Zipfel, Robert B. Sim, Nicholas D. Hastie, Harry Campbell, Alan F. Wright

    I whakaputaina 2013
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  12. 12
    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families

    Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families mā Nadia Akawi, Jeremy F. McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F. Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas Fitzgerald, Nicola Foulds, Richard Francis, George C. Gabriel, Sebastian S. Gerety, Judith Goodship, Emma Hobson, Wendy D. Jones, Shelagh Joss, Daniel A. King, Nikolai Klena, Ajith Kumar, Melissa Lees, Chris Lelliott, Jenny Lord, Dominic McMullan, Mary O’Regan, Deborah Osio, Virginia Piombo, Elena Prigmore, Diana Rajan, Elisabeth Rosser, Alejandro Sifrim, Audrey Smith, G. Jawahar Swaminathan, Peter D. Turnpenny, James W. Whitworth, Caroline F. Wright, Helen V. Firth, Jeffrey C. Barrett, Cecilia Lo, David Fitzpatrick, Matthew E. Hurles

    I whakaputaina 2015
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  13. 13
    A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection

    A sensitive and affordable multiplex RT-qPCR assay for SARS-CoV-2 detection mā Martin A.M. Reijns, Louise Thompson, Juan Carlos Acosta, Holly A. Black, Francisco J. Sánchez‐Luque, Austin G. Diamond, David Parry, Alison Daniels, Marie O’Shea, Carolina Uggenti, Maria C. Sanchez, Alan O’Callaghan, Michelle L.L. McNab, Martyna Adamowicz, Elias T. Friman, Toby W. Hurd, Edward J. Jarman, Frederic Li Mow Chee, Jacqueline K. Rainger, Marion Walker, Camilla Drake, Dáša Longman, Christine Mordstein, Sophie J. Warlow, Stewart McKay, Louise Slater, Morad Ansari, Ian Tomlinson, David Moore, Nadine Wilkinson, Jill Shepherd, Kate Templeton, Ingólfur Johannessen, Christine Tait‐Burkard, Jürgen Haas, Nick Gilbert, Ian R. Adams, Andrew P. Jackson

    I whakaputaina 2020
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  14. 14
    Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease

    Concordant Association of Insulin Degrading Enzyme Gene (IDE) Variants with IDE mRNA, Aß, and Alzheimer's Disease mā Minerva M. Carrasquillo, Olivia Belbin, Fanggeng Zou, Mariet Allen, Nilüfer Ertekin‐Taner, Morad Ansari, Samantha L. Wilcox, Mariah R. Kashino, Li Ma, Linda H. Younkin, Samuel Younkin, Curtis Younkin, Toros Dincman, Melissa E. Howard, Chanley C. Howell, Chloë M. Stanton, Christopher M. Watson, Michael Crump, Véronique Vitart, Caroline Hayward, Nicholas D. Hastie, Igor Rudan, Harry Campbell, Ozren Polašek, Kristelle Brown, Peter Passmore, David Craig, Bernadette McGuinness, Stephen Todd, Patrick G. Kehoe, David Mann, A. David Smith, Helen Beaumont, Donald Warden, Clive Holmes, Reinhard Heun, Heike Kölsch, Noor Kalsheker, V. Shane Pankratz, Dennis W. Dickson, Neill R. Graff‐Radford, Ronald Petersen, Alan F. Wright, Steven G. Younkin, Kevin Morgan

    I whakaputaina 2010
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  15. 15
    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome mā Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie H. Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton‐Smith, Hélène Dollfus, Pierre Bitoun, Françoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng T. Khaw, Carol L. Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury‐Ecob, Elias I. Traboulsi, Eduardo Silva, Mukhlis M. Madlom, David Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell‐Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine Prescott, Deborah Shears, Ken K. Nischal, Martine Doco‐Fenzy, Fabienne Prieur, I. Karen Temple, Katherine Lachlan, Giuseppe Damante, Danny Morrison, Veronica van Heyningen, David Fitzpatrick

    I whakaputaina 2016
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  16. 16
    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

    <i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes mā María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Christopher Tan, Ilaria Parenti, Carolina Baquero‐Montoya, Lilian Bomme Ousager, Beatriz Puisac, María Hernández-Marcos, Maria Esperanza Teresa‐Rodrigo, Íñigo Marcos‐Alcalde, Jan-Jaap Wesselink, Silvia Lusa-Bernal, Emilia K. Bijlsma, Diana Braunholz, Inés Bueno-Martínez, Dinah Clark, Nicola Cooper, Cynthia J. Curry, Richard Fisher, Alan Fryer, Jaya Ganesh, Cristina Gervasini, Gabriele Gillessen‐Kaesbach, Yiran Guo, Hákon Hákonarson, Robert J. Hopkin, Maninder Kaur, Brendan J. Keating, Maria Kibæk, Esther Kinning, Tjitske Kleefstra, Antonie D. Kline, Ekaterina Kuchinskaya, Lidia Larizza, Leslie A. Lange, Xuanzhu Liu, Milena Mariani, Jonathan Picker, Ángeles Pié, Jelena Pozojevic, Ethel Queralt, Julie Richer, Elizabeth Roeder, Anubha Sinha, Richard H. Scott, Joyce So, Katherine Wusik, Louise C. Wilson, Jianguo Zhang, Paulino Gómez‐Puertas, César H. Casale, Lena Ström, Angelo Selicorni, Feliciano J. Ramos, Laird G. Jackson, Ian D. Krantz, Soma Das, Raoul C. M. Hennekam, Frank J. Kaiser, David Fitzpatrick, Juan Pié

    I whakaputaina 2015
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  17. 17
    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

    Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism mā Morad Ansari, Gemma Poke, Quentin RV. Ferry, Kathleen A. Williamson, Roland Christopher Lochore Aldridge, Alison Meynert, Hemant Bengani, Cheng Yee Chan, Hülya Kayserili, Şahin Avcı, Raoul C. M. Hennekam, Anne Katrin Lampe, E. Redeker, Tessa Homfray, Alison Ross, Marie Falkenberg Smeland, Sahar Mansour, Michael Parker, Jacqueline Cook, Miranda Splitt, Richard B. Fisher, Alan Fryer, Alex Magee, Andrew O.M. Wilkie, Angela Barnicoat, Angela F. Brady, Nicola Cooper, Catherine Mercer, Charu Deshpande, Christopher Bennett, Daniela T. Pilz, Deborah Ruddy, Deirdre Cilliers, Diana Johnson, Dragana Josifova, Elisabeth Rosser, Elizabeth M. Thompson, Emma Wakeling, Esther Kinning, Fiona Stewart, Frances Flinter, Katta M. Girisha, Helen Cox, Helen V. Firth, Helen Kingston, Jamie S Wee, Jane A. Hurst, Jill Clayton‐Smith, John Tolmie, Julie Vogt, Katrina Tatton‐Brown, Kate Chandler, Katrina Prescott, Louise C. Wilson, Mahdiyeh Behnam, Meriel McEntagart, Rosemarie Davidson, Sally Ann Lynch, Sanjay M. Sisodiya, Sarju Mehta, Shane McKee, Shehla Mohammed, Simon Holden, Soo-Mi Park, Susan Holder, Victoria Harrison, Vivienne McConnell, Wayne Lam, Andrew Green, Dian Donnai, Maria Bitner‐Glindzicz, Deirdre E. Donnelly, Christoffer Nellåker, Martin S. Taylor, David Fitzpatrick

    I whakaputaina 2014
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  18. 18
    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

    SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome mā Natalie D. Shaw, Harrison Brand, Zachary A Kupchinsky, Hemant Bengani, Lacey Plummer, Takako I. Jones, Serkan Erdin, Kathleen A. Williamson, Joe Rainger, Alexei Stortchevoi, Kaitlin E. Samocha, Benjamin Currall, Donncha S. Dunican, Ryan L. Collins, Jason R. Willer, Angela Lek, Monkol Lek, Malik Nassan, Shahrin Pereira, Tammy Kammin, Diane Lucente, Alexandra Silva, Catarina M. Seabra, Colby Chiang, Yu An, Morad Ansari, Jacqueline K. Rainger, Shelagh Joss, Jill Smith, Margaret Lippincott, Sylvia Singh, Nirav Patel, Jenny W Jing, Jennifer Law, Nalton Ferraro, Alain Verloès, Anita Rauch, Katharina Steindl, Markus Zweier, Ianina Scheer, Daisuke Sato, Nobuhiko Okamoto, Christina M. Jacobsen, Jeanie B. Tryggestad, Steven D. Chernausek, Lisa A. Schimmenti, Benjamin Brasseur, Claudia Cesaretti, José Elías García‐Ortíz, Tatiana Pineda Buitrago, Orlando Pérez Silva, Jodi D. Hoffman, W. Mühlbauer, Klaus W. Ruprecht, Bart Loeys, Masato Shino, Angela M. Kaindl, Chie Hee Cho, Cynthia C. Morton, Richard R. Meehan, Veronica van Heyningen, Eric C. Liao, Ravikumar Balasubramanian, Janet E. Hall, Stephanie B. Seminara, Daniel G. MacArthur, Steven A. Moore, Koh-ichiro Yoshiura, James F. Gusella, Joseph A. Marsh, John M. Graham, Angela E. Lin, Nicholas Katsanis, Peter L. Jones, William F. Crowley, Erica E. Davis, David Fitzpatrick, Michael E. Talkowski

    I whakaputaina 2017
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  19. 19
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance mā Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    I whakaputaina 2014
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    Artigo
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