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A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
- Ben-Mahmoud, Afif, Kishikawa, Shotaro, Gupta, Vijay, Leach, Natalie T., Shen, Yiping, Moldovan, Oana, Goel, Himanshu, Hopper, Bruce, Ranguin, Kara, Gruchy, Nicolas, Maas, Saskia M., Lacassie, Yves, Kim, Soo-Hyun, Kim, Woo-Yang, Quade, Bradley J., Morton, Cynthia C., Kim, Cheol-Hee, Layman, Lawrence C., Kim, Hyung-Goo
- Kumar, Raman, Ha, Thuong, Pham, Duyen, Shaw, Marie, Mangelsdorf, Marie, Friend, Kathryn L., Hobson, Lynne, Turner, Gillian, Boyle, Jackie, Field, Michael, Hackett, Anna, Corbett, Mark, Gecz, Jozef
Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes
- Hackett, Anna, Tarpey, Patrick S., Tolmie, John, Yates, John R. W., Turner, Gillian, WIlson, Meredith, Futreal, Andrew P., Corbett, Mark, Shaw, Marie, Gecz, Jozef, Raymond, F. Lucy, Stratton, Micahel R., Licata, Andrea, Schwartz, Charles E., Abidi, Fatima E., Cox, James, Whibley, Annabel, Boyle, Jackie, Rogers, Carolyn, Grigg, John, Partington, Michael, Stevenson, Roger E.
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability
- Dudding-Byth, Tracy, Baxter, Anne, Kleefstra, Tjitske, Ratwatte, Seshika, Riveros, Carlos, Brain, Steve, Lovell, Brian C., Holliday, Elizabeth G., Hackett, Anna, O'Donnell, Sheridan, White, Susan M., Attia, John, Brunner, Han, de Vries, Bert, Koolen, David
- Phillips, Lisa, Goodwin, Jane, Johnson, Martin P., Campbell, Linda E.
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
- Choong, Catherine S., Nixon, Gillian M., Schofield, Cara, Seton, Chris, Tai, Andrew, Tham, Elaine, Vora, Komal, Crock, Patricia, Verge, Charles, Musthaffa, Yassmin, Blecher, Greg, Wilson, Andrew, Blackmore, A. Marie, Downs, Jenny, Chen, Wai, Jacoby, Peter, Leonard, Helen, Lafferty, Antony R., Ambler, Geoff, Kapur, Nitin, Bergman, Philip B.
- Vissers, Lisenka E. L. M., Kalvakuri, Sreehari, de Boer, Elke, Geuer, Sinje, Oud, Machteld, van Outersterp, Inge, Kwint, Michael, Witmond, Melde, Kersten, Simone, Polla, Daniel L., Weijers, Dilys, Begtrup, Amber, McWalter, Kristy, Ruiz, Anna, Gabau, Elisabeth, Morton, Jenny E. V., Griffith, Christopher, Weiss, Karin, Gamble, Candace, Bartley, James, Goel, Himanshu
- Austin, K. L., Hunter, M., Gallagher, E., Campbell, L. E.
- Field, Michael J., Kumar, Raman, Gardner, Alison E., Sullivan, Patricia, Ha, Thuong T., Schwartz, Charles E., Cowley, Mark J., Dinger, Marcel E., Palmer, Elizabeth E., Christie, Louise, Shaw, Marie, Roscioli, Tony, Hackett, Anna, Gecz, Jozef, Corbett, MA, Kayumi, Sayaka, Shoubridge, Cheryl A., Ewans, Lisa J., Ivancevic, Atma M., Dudding-Byth, Tracy, Carroll, Renée, Kroes, Thessa
Disability and madness in colonial asylum records in Australia and New Zealand
- Chng, J. P. L., Stancliffe, R. J., Wilson, N. J., Anderson, K.
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12
- Willemsen, Marjolein H., Goel, Himanshu, Verhoeven, Judith S., Braakman, Hilde M. H., de Leeuw, Nicole, Freeth, Alison, Minassian, Berge A.
Expanding the phenotype of intellectual disability caused by HIVEP2 variants
- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu
Expansion of phenotype of DDX3X syndrome: six new cases
- Beal, Bryony, Hayes, Ian, Mcgaughran, Julie, Amor, David J., Miteff, Christina, Jackson, Victoria, van Reyk, Olivia, Subramanian, Gopinath, Hildebrand, Michael S., Morgan, Angela T., Goel, Himanshu
FOXP1 mutations cause intellectual disability and a recognizable phenotype
- Le Fevre, Anna K., Taylor, Sharelle, Bain, Nicole, Fagan, Kerry, Hunter, Matthew F., Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef
How much does intellectual disability really cost? First estimates for Australia
- Doran, Christopher M., Einfeld, Stewart L., Madden, Rosamond H., Otim, Michael, Horstead, Siân K., Ellis, Louise A., Emerson, Eric
- Harmon, Charles, Petrie, Philip
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