The MS4A family: counting past 1, 2 and 3 by Eon Kuek, Li, Leffler, Melanie, Mackay, Graham A, Hulett, Mark D

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THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability by Kumar, Raman, Corbett, Mark A., van Bon, Bregje W.M., Woenig, Joshua A., Weir, Lloyd, Douglas, Evelyn, Friend, Kathryn L., Gardner, Alison, Shaw, Marie, Jolly, Lachlan A., Tan, Chuan, Hunter, Matthew F., Hackett, Anna, Field, Michael, Palmer, Elizabeth E., Leffler, Melanie, Rogers, Carolyn, Boyle, Jackie, Bienek, Melanie, Jensen, Corinna, Van Buggenhout, Griet, Van Esch, Hilde, Hoffmann, Katrin, Raynaud, Martine, Zhao, Huiying, Reed, Robin, Hu, Hao, Haas, Stefan A., Haan, Eric, Kalscheuer, Vera M., Gecz, Jozef

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

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Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor by Kumar, Raman, Palmer, Elizabeth, Gardner, Alison E, Carroll, Renee, Banka, Siddharth, Abdelhadi, Ola, Donnai, Dian, Elgersma, Ype, Curry, Cynthia J, Gardham, Alice, Suri, Mohnish, Malla, Rishikesh, Brady, Lauren Ilana, Tarnopolsky, Mark, Azmanov, Dimitar N, Atkinson, Vanessa, Black, Michael, Baynam, Gareth, Dreyer, Lauren, Hayeems, Robin Z, Marshall, Christian R, Costain, Gregory, Wessels, Marja W, Baptista, Julia, Drummond, James, Leffler, Melanie, Field, Michael, Gecz, Jozef

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“We are not a typical family anymore”: Exploring the experiences and support needs of fathers of children with Fragile X syndrome in Australia by Luermans, Jacintha, Fleming, Jane, O'Shea, Rosie, Barlow‐Stewart, Kristine, Palmer, Elizabeth Emma, Leffler, Melanie

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Further delineation of dosage‐sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance by Leffler, Melanie, Christie, Louise, Hackett, Anna, Bennetts, Bruce, Goel, Himanshu, Amor, David J., Peters, Greg B., Field, Michael, Dudding‐Byth, Tracy

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The Healthcare and Societal Costs of Familial Intellectual Disability by Schofield, Deborah, Shrestha, Rupendra, Tan, Owen, Lim, Katherine, Rajkumar, Radhika, West, Sarah, Boyle, Jackie, Murray, Lucinda, Leffler, Melanie, Christie, Louise, Rice, Morgan, Hart, Natalie, Li, Jinjing, Tanton, Robert, Roscioli, Tony, Field, Mike

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RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features by Palmer, Elizabeth E., Carroll, Renee, Shaw, Marie, Kumar, Raman, Minoche, Andre E., Leffler, Melanie, Murray, Lucinda, Macintosh, Rebecca, Wright, Dale, Troedson, Chris, McKenzie, Fiona, Townshend, Sharron, Ward, Michelle, Nawaz, Urwah, Ravine, Anja, Runke, Cassandra K., Thorland, Erik C., Hummel, Marybeth, Foulds, Nicola, Pichon, Olivier, Isidor, Bertrand, Le Caignec, Cédric, Demeer, Bénédicte, Andrieux, Joris, Albarazi, Salam Hadah, Bye, Ann, Sachdev, Rani, Kirk, Edwin P., Cowley, Mark J., Field, Mike, Gecz, Jozef

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Pre‐genetics clinic resource evaluation for adults with intellectual disability: The pre‐genetics clinic aid by Kotwal, Huafrin, Fleming, Jane, Barlow‐Stewart, Kristine, Boyle, Jackie, Silberbauer, Letitia, Leffler, Melanie, Murray, Lucinda, Palmer, Elizabeth E.

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A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations by Palmer, Elizabeth E., Kumar, Raman, Gordon, Christopher T., Shaw, Marie, Hubert, Laurence, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Minoche, Andre E., Cowley, Mark J., Risen, Sarah, Powell-Hamilton, Nina N., Tusi, Jessica E., Immken, LaDonna, Nagakura, Honey, Bole-Feysot, Christine, Nitschké, Patrick, Garrigue, Alexandrine, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Field, Michael, Gecz, Jozef

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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems by Kumar, Raman, Corbett, Mark A, Van Bon, Bregje W M, Gardner, Alison, Woenig, Joshua A, Jolly, Lachlan A, Douglas, Evelyn, Friend, Kathryn, Tan, Chuan, Van Esch, Hilde, Holvoet, Maureen, Raynaud, Martine, Field, Michael, Leffler, Melanie, Budny, Bartłomiej, Wisniewska, Marzena, Badura-Stronka, Magdalena, Latos-Bieleńska, Anna, Batanian, Jacqueline, Rosenfeld, Jill A, Basel-Vanagaite, Lina, Jensen, Corinna, Bienek, Melanie, Froyen, Guy, Ullmann, Reinhard, Hu, Hao, Love, Michael I, Haas, Stefan A, Stankiewicz, Pawel, Cheung, Sau Wai, Baxendale, Anne, Nicholl, Jillian, Thompson, Elizabeth M, Haan, Eric, Kalscheuer, Vera M, Gecz, Jozef

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Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R by Leffler, Melanie, Puusepp, Sanna, Žilina, Olga, Zhu, Ying, Kuuse, Kati, Bain, Nicole, Burgess, Trent, Õunap, Katrin, Field, Michael

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