A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A
- Corbett, Mark A., Dudding-Byth, Tracy, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef, Field, Michael, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert
- Creator: Corbett, Mark A. , Dudding-Byth, Tracy , Friend, Kathryn L. , Crawford, Jo , Jackson, Graeme , Vandeleur, Lucianne , Hackett, Anna , Tarpey, Patrick , Stratton, Michael R. , Turner, Gillian , Gécz, Jozef , Field, Michael , Crock, Patricia A. , Botta, Elena , Christie, Louise M. , Nardo, Tiziana , Caligiuri, Giuseppina , Hobson, Lynne , Boyle, Jackie , Mansour, Albert
- Resource Type: journal article
- Date: 2015
- Palmer, Elizabeth E., Kumar, Raman, Oufadem, Myriam, Lalani, Seema R., Lewis, Andrea M., Xia, Fan, Tam, Allison, Webster, Richard, Brammah, Susan, Filippini, Francesca, Pollard, John, Spies, Judy, Gordon, Christopher T., 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, Shaw, Marie, de Saint Basile, Geneviève, Kivuva, Emma, Scott, Richard H., Rendon, Augusto, Munnich, Arnold, Newman, William, Kerr, Bronwyn, Besmond, Claude, Rosenfeld, Jill A., Amiel, Jeanne, Hubert, Laurence, Field, Michael, Gecz, Jozef, Carroll, Renee, Rio, Marlène, Murray, Lucinda, Leffler, Melanie, Dudding-Byth, Tracy
- Creator: Palmer, Elizabeth E. , Kumar, Raman , Oufadem, Myriam , Lalani, Seema R. , Lewis, Andrea M. , Xia, Fan , Tam, Allison , Webster, Richard , Brammah, Susan , Filippini, Francesca , Pollard, John , Spies, Judy , Gordon, Christopher T. , 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 , Shaw, Marie , de Saint Basile, Geneviève , Kivuva, Emma , Scott, Richard H. , Rendon, Augusto , Munnich, Arnold , Newman, William , Kerr, Bronwyn , Besmond, Claude , Rosenfeld, Jill A. , Amiel, Jeanne , Hubert, Laurence , Field, Michael , Gecz, Jozef , Carroll, Renee , Rio, Marlène , Murray, Lucinda , Leffler, Melanie , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
- Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton-Smith, Jill, Colley, Alison, Buiting, Karin, Dudding-Byth, Tracy
- Creator: Le Fevre, Anna , Beygo, Jasmin , Silveira, Cheryl , Kamien, Benjamin , Clayton-Smith, Jill , Colley, Alison , Buiting, Karin , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
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
- Creator: 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
- Resource Type: journal article
- Date: 2017
- Creator: 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
- Resource Type: journal article
- Date: 2017
Fryns syndrome associated with recessive mutations in PIGN in two separate families
- McInerney-Leo, Aideen M., Harris, Jessica E., Brown, Matthew A., Leo, Paul J., Wicking, Carol, Duncan, Emma L., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, Lawrie
- Creator: McInerney-Leo, Aideen M. , Harris, Jessica E. , Brown, Matthew A. , Leo, Paul J. , Wicking, Carol , Duncan, Emma L. , Gattas, Michael , Peach, Elizabeth E. , Sinnott, Stephen , Dudding-Byth, Tracy , Rajagopalan, Sulekha , Barnett, Christopher P. , Anderson, Lisa K. , Wheeler, Lawrie
- Resource Type: journal article
- Date: 2016
- Petrovski, Slavé, Kury, Sébastien, Besnard, Thomas, Becraft, Emily, Wadley, Alexandrea, Politi, Anya Revah, Colombo, Sophie, Zhu, Xiaolin, Ren, Zhong, Andrews, Ian, Dudding-Byth, Tracy, Schneider, Amy L., Myers, Candace T., Anyane-Yeboa, Kwame, Cogné, Benjamin, Bialer, Martin, Xia, Fan, Hemati, Parisa, Riviello, James, Mehaffey, Michele
- Creator: Petrovski, Slavé , Kury, Sébastien , Besnard, Thomas , Becraft, Emily , Wadley, Alexandrea , Politi, Anya Revah , Colombo, Sophie , Zhu, Xiaolin , Ren, Zhong , Andrews, Ian , Dudding-Byth, Tracy , Schneider, Amy L. , Myers, Candace T. , Anyane-Yeboa, Kwame , Cogné, Benjamin , Bialer, Martin , Xia, Fan , Hemati, Parisa , Riviello, James , Mehaffey, Michele
- Resource Type: journal article
- Date: 2016
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Zambonin, Jessica L., Bellomo, Allison, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Ben-Pazi, Hilla, Dudding-Byth, Tracy, Boycott, Kym M., Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017
- Creator: Zambonin, Jessica L. , Bellomo, Allison , Koenig, Mary Kay , Lines, Matthew , Palmer, Elizabeth Emma , Richardson, Randal , Segel, Reeval , Tarnopolsky, Mark , Vanstone, Jason R. , Gibbons, Melissa , Collins, Abigail , Fogel, Brent L. , Ben-Pazi, Hilla , Dudding-Byth, Tracy , Boycott, Kym M. , Everman, David B. , Frazer, Lee M. , Geraghty, Michael T. , Harper, Amy D. , Jones, Julie R. , Kamien, Benjamin , Kernohan, Kristin
- Resource Type: journal article
- Date: 2017
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