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
Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Breckpot, Jeroen, Anderlid, Britt-Marie, Alanay, Yasemin, Blyth, Moira, Brahimi, Afane, Duban-Bedu, Bénédicte, Gozé, Odile, Firth, Helen, Yakicier, Mustafa Cengiz, Hens, Greet, Rayyan, Maissa, Legius, Eric, Vermeesch, Joris Robert, Devriendt, Koen
Published in European journal of human genetics : EJHG (01.01.2016)
Published in European journal of human genetics : EJHG (01.01.2016)
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Journal Article
Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications
Myers, Lynnea, Blyth, Moira, Moradkhani, Kamran, Hranilović, Dubravka, Polesie, Sam, Isaksson, Johan, Nordgren, Ann, Bucan, Maja, Vincent, Marie, Bölte, Sven, Anderlid, Britt‐Marie, Tammimies, Kristiina
Published in Molecular genetics & genomic medicine (01.01.2020)
Published in Molecular genetics & genomic medicine (01.01.2020)
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Journal Article
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
Myers, Candace T., Cossette, Patrick, Lemay, Philippe, Spiegelman, Dan, Laporte, Alexandre Dionne, Nassif, Christina, Diallo, Ousmane, Monlong, Jean, Cadieux-Dion, Maxime, Dobrzeniecka, Sylvia, Meloche, Caroline, Retterer, Kyle, Cho, Megan T., Rosenfeld, Jill A., Bi, Weimin, Massicotte, Christine, Miguet, Marguerite, Brunga, Ledia, Regan, Brigid M., Mo, Kelly, Tam, Cory, Hollingsworth, Georgie, FitzPatrick, David R., Canham, Natalie, Blair, Edward, Kerr, Bronwyn, Fry, Andrew E., Thomas, Rhys H., Shelagh, Joss, Hurst, Jane A., Brittain, Helen, Blyth, Moira, Lebel, Robert Roger, Gerkes, Erica H., Davis-Keppen, Laura, Stein, Quinn, Dorison, Sara J., Benke, Paul J., Fassi, Emily, Corsten-Janssen, Nicole, Kamsteeg, Erik-Jan, Mau-Them, Frederic T., Bruel, Ange-Line, Verloes, Alain, Õunap, Katrin, Wojcik, Monica H., Albert, Dara V.F., Venkateswaran, Sunita, Ware, Tyson, Liu, Yu-Chi, Mohammad, Shekeeb S., Bizargity, Peyman, Bacino, Carlos A., Leuzzi, Vincenzo, Martinelli, Simone, Dallapiccola, Bruno, Tartaglia, Marco, Blumkin, Lubov, Wierenga, Klaas J., Purcarin, Gabriela, O’Byrne, James J., Stockler, Sylvia, Lehman, Anna, Keren, Boris, Nougues, Marie-Christine, Mignot, Cyril, Auvin, Stéphane, Nava, Caroline, Hiatt, Susan M., Bebin, Martina, Shao, Yunru, Scaglia, Fernando, Frye, Richard E., Jarjour, Imad T., Jacques, Stéphanie, Boucher, Renee-Myriam, Riou, Emilie, Srour, Myriam, Carmant, Lionel, Lortie, Anne, Major, Philippe, Diadori, Paola, Dubeau, François, D’Anjou, Guy, Bourque, Guillaume, Berkovic, Samuel F., Sadleir, Lynette G., Campeau, Philippe M., Kibar, Zoha, Lafrenière, Ronald G., Girard, Simon L., Mercimek-Mahmutoglu, Saadet, Boelman, Cyrus, Rouleau, Guy A., Scheffer, Ingrid E., Mefford, Heather C., Andrade, Danielle M., Rossignol, Elsa, Minassian, Berge A., Michaud, Jacques L.
Published in American journal of human genetics (02.11.2017)
Published in American journal of human genetics (02.11.2017)
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Journal Article
Pallister-Killian syndrome: a study of 22 British patients
Blyth, Moira, Maloney, Viv, Beal, Sarah, Collinson, Morag, Huang, Shuwen, Crolla, John, Temple, I Karen, Baralle, Diana
Published in Journal of medical genetics (01.07.2015)
Published in Journal of medical genetics (01.07.2015)
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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)
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Journal Article
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Hempel, Annmarie, Pagnamenta, Alistair T, Blyth, Moira, Mansour, Sahar, McConnell, Vivienne, Kou, Ikuyo, Ikegawa, Shiro, Tsurusaki, Yoshinori, Matsumoto, Naomichi, Lo-Castro, Adriana, Plessis, Ghislaine, Albrecht, Beate, Battaglia, Agatino, Taylor, Jenny C, Howard, Malcolm F, Keays, David, Sohal, Aman Singh, Kühl, Susanne J, Kini, Usha, McNeill, Alisdair
Published in Journal of medical genetics (01.03.2016)
Published in Journal of medical genetics (01.03.2016)
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Journal Article
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Gehin, Charlotte, Lone, Museer A, Lee, Winston, Capolupo, Laura, Ho, Sylvia, Adeyemi, Adekemi M, Gerkes, Erica H, Stegmann, Alexander Pa, López-Martín, Estrella, Bermejo-Sánchez, Eva, Martínez-Delgado, Beatriz, Zweier, Christiane, Kraus, Cornelia, Popp, Bernt, Strehlow, Vincent, Gräfe, Daniel, Knerr, Ina, Jones, Eppie R, Zamuner, Stefano, Abriata, Luciano A, Kunnathully, Vidya, Moeller, Brandon E, Vocat, Anthony, Rommelaere, Samuel, Bocquete, Jean-Philippe, Ruchti, Evelyne, Limoni, Greta, Van Campenhoudt, Marine, Bourgeat, Samuel, Henklein, Petra, Gilissen, Christian, van Bon, Bregje W, Pfundt, Rolph, Willemsen, Marjolein H, Schieving, Jolanda H, Leonardi, Emanuela, Soli, Fiorenza, Murgia, Alessandra, Guo, Hui, Zhang, Qiumeng, Xia, Kun, Fagerberg, Christina R, Beier, Christoph P, Larsen, Martin J, Valenzuela, Irene, Fernández-Álvarez, Paula, Xiong, Shiyi, Śmigiel, Robert, López-González, Vanesa, Armengol, Lluís, Morleo, Manuela, Selicorni, Angelo, Torella, Annalaura, Blyth, Moira, Cooper, Nicola S, Wilson, Valerie, Oegema, Renske, Herenger, Yvan, Garde, Aurore, Bruel, Ange-Line, Tran Mau-Them, Frederic, Maddocks, Alexis Br, Bain, Jennifer M, Bhat, Musadiq A, Costain, Gregory, Kannu, Peter, Marwaha, Ashish, Champaigne, Neena L, Friez, Michael J, Richardson, Ellen B, Gowda, Vykuntaraju K, Srinivasan, Varunvenkat M, Gupta, Yask, Lim, Tze Y, Sanna-Cherchi, Simone, Lemaitre, Bruno, Yamaji, Toshiyuki, Hanada, Kentaro, Burke, John E, Jakšić, Ana Marjia, McCabe, Brian D, De Los Rios, Paolo, Hornemann, Thorsten, D'Angelo, Giovanni, Gennarino, Vincenzo A
Published in The Journal of clinical investigation (15.05.2023)
Published in The Journal of clinical investigation (15.05.2023)
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Journal Article
Enhancing inclusion of diverse populations in genomics: A competence framework
Sharif, Saghira M., Blyth, Moira, Ahmed, Mushtaq, Sheridan, Eamonn, Saltus, Roiyah, Yu, Juping, Tonkin, Emma, Kirk, Maggie
Published in Journal of genetic counseling (01.04.2020)
Published in Journal of genetic counseling (01.04.2020)
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Journal Article
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Nil, Zelha, Deshwar, Ashish R., Huang, Yan, Barish, Scott, Zhang, Xi, Choufani, Sanaa, Le Quesne Stabej, Polona, Hayes, Ian, Yap, Patrick, Haldeman-Englert, Chad, Wilson, Carolyn, Prescott, Trine, Tveten, Kristian, Vøllo, Arve, Haynes, Devon, Wheeler, Patricia G., Zon, Jessica, Cytrynbaum, Cheryl, Jobling, Rebekah, Blyth, Moira, Banka, Siddharth, Afenjar, Alexandra, Mignot, Cyril, Robin-Renaldo, Florence, Keren, Boris, Kanca, Oguz, Mao, Xiao, Wegner, Daniel J., Sisco, Kathleen, Shinawi, Marwan, Wangler, Michael F., Weksberg, Rosanna, Yamamoto, Shinya, Costain, Gregory, Bellen, Hugo J.
Published in American journal of human genetics (02.11.2023)
Published in American journal of human genetics (02.11.2023)
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Journal Article
Cerebral hypomyelination associated with biallelic variants of FIG4
Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul‐Fernandez, Miriam, Rodriguez‐Casero, Victoria, Lockhart, Paul J., Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article
A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
Rice, Laura, Stockdale, Claire, Berry, Ian, O’Riordan, Sean, Pysden, Karen, Anwar, Rashida, Rushambuza, Roger, Blyth, Moira, Srikanth, Sonal, Gwack, Yousang, El-Sherbiny, Yasser M., Carter, Clive, Savic, Sinisa
Published in Journal of clinical immunology (01.04.2019)
Published in Journal of clinical immunology (01.04.2019)
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Journal Article
21q21 deletion involving NCAM2 : Report of 3 cases with neurodevelopmental disorders
Petit, Florence, Plessis, Ghislaine, Decamp, Matthieu, Cuisset, Jean-Marie, Blyth, Moira, Pendlebury, Maria, Andrieux, Joris
Published in European journal of medical genetics (01.01.2015)
Published in European journal of medical genetics (01.01.2015)
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Journal Article
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients
Gazdagh, Gabriella, Blyth, Moira, Scurr, Ingrid, Turnpenny, Peter D., Mehta, Sarju G., Armstrong, Ruth, McEntagart, Meriel, Newbury-Ecob, Ruth, Tobias, Edward S., Joss, Shelagh
Published in European journal of medical genetics (01.01.2019)
Published in European journal of medical genetics (01.01.2019)
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Journal Article
Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al
Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul-Fernandez, Miriam, Rodriguez-Casero, Victoria, Lockhart, Paul J., Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H., Meisler, Miriam H.
Published in Human mutation (01.05.2019)
Published in Human mutation (01.05.2019)
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Journal Article
The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants
Tatton-Brown, Katrina, Zachariou, Anna, Loveday, Chey, Renwick, Anthony, Mahamdallie, Shazia, Aksglaede, Lise, Baralle, Diana, Barge-Schaapveld, Daniela, Blyth, Moira, Bouma, Mieke, Breckpot, Jeroen, Crabb, Beau, Dabir, Tabib, Cormier-Daire, Valerie, Fauth, Christine, Fisher, Richard, Gener, Blanca, Goudie, David, Homfray, Tessa, Hunter, Matthew, Jorgensen, Agnete, Kant, Sarina G, Kirally-Borri, Cathy, Koolen, David, Kumar, Ajith, Labilloy, Anatalia, Lees, Melissa, Marcelis, Carlo, Mercer, Catherine, Mignot, Cyril, Miller, Kathryn, Neas, Katherine, Newbury-Ecob, Ruth, Pilz, Daniela T, Posmyk, Renata, Prada, Carlos, Ramsey, Keri, Randolph, Linda M, Selicorni, Angelo, Shears, Deborah, Suri, Mohnish, Temple, I Karen, Turnpenny, Peter, Val Maldergem, Lionel, Varghese, Vinod, Veenstra-Knol, Hermine E, Yachelevich, Naomi, Yates, Laura, Rahman, Nazneen
Published in Wellcome open research (2018)
Published in Wellcome open research (2018)
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Journal Article
Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
Bunyan, David J., Taylor, Emma-Jane, Maloney, Vivienne K., Blyth, Moira
Published in American journal of medical genetics. Part A (01.11.2014)
Published in American journal of medical genetics. Part A (01.11.2014)
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Journal Article
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings
Tooley, Madeleine, Lynch, Danielle, Bernier, Francois, Parboosingh, Jillian, Bhoj, Elizabeth, Zackai, Elaine, Calder, Alistair, Itasaki, Nobue, Wakeling, Emma, Scott, Richard, Lees, Melissa, Clayton-Smith, Jill, Blyth, Moira, Morton, Jenny, Shears, Debbie, Kini, Usha, Homfray, Tessa, Clarke, Angus, Barnicoat, Angela, Wallis, Colin, Hewitson, Rebecca, Offiah, Amaka, Saunders, Michael, Langton-Hewer, Simon, Hilliard, Tom, Davis, Peter, Smithson, Sarah
Published in American journal of medical genetics. Part A (01.05.2016)
Published in American journal of medical genetics. Part A (01.05.2016)
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