Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication

Por Shankara Narayana, Nandini, Kean, Anne-Maree, Ewans, Lisa, Ohnesorg, Thomas, Ayers, Katie L, Watson, Geoff, Vasilaras, Arthur, Sinclair, Andrew H, Twigg, Stephen M, Handelsman, David J
Publicado no Endocrinol Diabetes Metab Case Rep (2017)

Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy

Por Ewans, Lisa J, Field, Michael, Zhu, Ying, Turner, Gillian, Leffler, Melanie, Dinger, Marcel E, Cowley, Mark J, Buckley, Michael F, Scheffer, Ingrid E, Jackson, Matilda R, Roscioli, Tony, Shoubridge, Cheryl
Publicado no Eur J Hum Genet (2017)

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.

Por Bryen, Samantha J., Ewans, Lisa, Pinner, Jason, MacLennan, Suzanna C., Donkervoort, Sandra, Castro, Diana, Töpf, Ana, O’Grady, Gina, Cummings, Beryl, Chao, Katherine R., Weisburd, Ben, Francioli, Laurent, Faiz, Fathin, Bournazos, Adam M., Hu, Ying, Grosmann, Carla, Malicki, Denise M., Doyle, Helen, Witting, Nanna, Vissing, John, Claeys, Kristl G., Urankar, Kathryn, Beleza-Meireles, Ana, Baptista, Julia, Ellard, Sian, Savarese, Marco, Johari, Mridul, Vihola, Anna, Udd, Bjarne, Majumdar, Anirban, Straub, Volker, Bonnemann, Carsten, MacArthur, Daniel G., Davis, Mark R., Cooper, Sandra T.
Publicado no Hum Mutat (2019)

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

Por Cheng, Hanyin, Capponi, Simona, Wakeling, Emma, Marchi, Elaine, Li, Quan, Zhao, Mengge, Weng, Chunhua, Piatek, Stefan G., Ahlfors, Helena, Kleyner, Robert, Rope, Alan, Lumaka, Aimé, Lukusa, Prosper, Devriendt, Koenraad, Vermeesch, Joris, Posey, Jennifer E., Palmer, Elizabeth E., Murray, Lucinda, Leon, Eyby, Diaz, Jullianne, Worgan, Lisa, Mallawaarachchi, Amali, Vogt, Julie, de Munnik, Sonja A., Dreyer, Lauren, Baynam, Gareth, Ewans, Lisa, Stark, Zornitza, Lunke, Sebastian, Gonçalves, Ana R., Soares, Gabriela, Oliveira, Jorge, Fassi, Emily, Willing, Marcia, Waugh, Jeff L., Faivre, Laurence, Riviere, Jean-Baptiste, Moutton, Sebastien, Mohammed, Shehla, Payne, Katelyn, Walsh, Laurence, Begtrup, Amber, Sacoto, Maria J. Guillen, Douglas, Ganka, Alexander, Nora, Buckley, Michael F., Mark, Paul R., Adès, Lesley C., Sandaradura, Sarah A., Lupski, James R., Roscioli, Tony, Agrawal, Pankaj B., Kline, Antonie D., Wang, Kai, Timmers, H. T. Marc, Lyon, Gholson J.
Publicado no Hum Mutat (2019)

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Por Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H.
Publicado no Genome Biol (2016)