Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism
Murray, Jennie E., van der Burg, Mirjam, IJspeert, Hanna, Carroll, Paula, Wu, Qian, Ochi, Takashi, Leitch, Andrea, Miller, Edward S., Kysela, Boris, Jawad, Alireza, Bottani, Armand, Brancati, Francesco, Cappa, Marco, Cormier-Daire, Valerie, Deshpande, Charu, Faqeih, Eissa A., Graham, Gail E., Ranza, Emmanuelle, Blundell, Tom L., Jackson, Andrew P., Stewart, Grant S., Bicknell, Louise S.
Published in American journal of human genetics (05.03.2015)
Published in American journal of human genetics (05.03.2015)
Get full text
Journal Article
Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression
Lowther, Chelsea, Speevak, Marsha, Armour, Christine M., Goh, Elaine S., Graham, Gail E., Li, Chumei, Zeesman, Susan, Nowaczyk, Malgorzata J.M., Schultz, Lee-Anne, Morra, Antonella, Nicolson, Rob, Bikangaga, Peter, Samdup, Dawa, Zaazou, Mostafa, Boyd, Kerry, Jung, Jack H., Siu, Victoria, Rajguru, Manjulata, Goobie, Sharan, Tarnopolsky, Mark A., Prasad, Chitra, Dick, Paul T., Hussain, Asmaa S., Walinga, Margreet, Reijenga, Renske G., Gazzellone, Matthew, Lionel, Anath C., Marshall, Christian R., Scherer, Stephen W., Stavropoulos, Dimitri J., McCready, Elizabeth, Bassett, Anne S.
Published in Genetics in medicine (01.01.2017)
Published in Genetics in medicine (01.01.2017)
Get full text
Journal Article
Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature
Au, P Y Billie, Goedhart, Caitlin, Ferguson, Marcia, Breckpot, Jeroen, Devriendt, Koenraad, Wierenga, Klaas, Fanning, Elizabeth, Grange, Dorothy K, Graham, Gail E, Galarreta, Carolina, Jones, Marilyn C, Kini, Usha, Stewart, Helen, Parboosingh, Jillian S, Kline, Antonie D, Innes, A Micheil
Published in European journal of human genetics : EJHG (01.09.2018)
Published in European journal of human genetics : EJHG (01.09.2018)
Get full text
Journal Article
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
Smith, Amanda C, Mears, Alan J, Bunker, Ryan, Ahmed, Afsana, MacKenzie, Malcolm, Schwartzentruber, Jeremy A, Beaulieu, Chandree L, Ferretti, Emanuela, Majewski, Jacek, Bulman, Dennis E, Celik, Fatma Cakmak, Boycott, Kym M, Graham, Gail E
Published in Journal of medical genetics (01.07.2014)
Published in Journal of medical genetics (01.07.2014)
Get full text
Journal Article
Pre‐ and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two‐Center Experience
Götherström, Cecilia, Westgren, Magnus, Shaw, S.W. Steven, Åström, Eva, Biswas, Arijit, Byers, Peter H., Mattar, Citra N.Z., Graham, Gail E., Taslimi, Jahan, Ewald, Uwe, Fisk, Nicholas M., Yeoh, Allen E.J., Lin, Ju-Li, Cheng, Po-Jen, Choolani, Mahesh, Le Blanc, Katarina, Chan, Jerry K.Y.
Published in Stem cells translational medicine (01.02.2014)
Published in Stem cells translational medicine (01.02.2014)
Get full text
Journal Article
High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome
Aretz, Stefan, Stienen, Dietlinde, Uhlhaas, Siegfried, Loff, Steffan, Back, Walter, Pagenstecher, Constanze, McLeod, D. Ross, Graham, Gail E., Mangold, Elisabeth, Santer, René, Propping, Peter, Friedl, Waltraut
Published in Human mutation (01.12.2005)
Published in Human mutation (01.12.2005)
Get full text
Journal Article
Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease
Carta, Eloisa, Chung, Seo-Kyung, James, Victoria M., Robinson, Angela, Gill, Jennifer L., Remy, Nathalie, Vanbellinghen, Jean-François, Drew, Cheney J.G., Cagdas, Sophie, Cameron, Duncan, Cowan, Frances M., Del Toro, Mireria, Graham, Gail E., Manzur, Adnan Y., Masri, Amira, Rivera, Serge, Scalais, Emmanuel, Shiang, Rita, Sinclair, Kate, Stuart, Catriona A., Tijssen, Marina A.J., Wise, Grahame, Zuberi, Sameer M., Harvey, Kirsten, Pearce, Brian R., Topf, Maya, Thomas, Rhys H., Supplisson, Stéphane, Rees, Mark I., Harvey, Robert J.
Published in The Journal of biological chemistry (17.08.2012)
Published in The Journal of biological chemistry (17.08.2012)
Get full text
Journal Article
Mutations in the gene encoding GlyT2 ( SLC6A5 ) define a presynaptic component of human startle disease
Harvey, Kirsten, Shiang, Rita, Rees, Mark I, Abbott, Kim J, Chung, Seo-Kyung, Graham, Gail E, Tijssen, Marina A J, Supplisson, Stéphane, Harvey, Robert J, Beatty, Sarah, Armstrong, Linlea, Duguid, Ian C, Smart, Trevor G, Pearce, Brian R, Owen, Michael J, Stephenson, John B P, Zuberi, Sameer M, van den Maagdenberg, Arn M J M, Thomas, Philip
Published in Nature genetics (01.07.2006)
Published in Nature genetics (01.07.2006)
Get full text
Journal Article
Genetic education for primary care providers Improving attitudes, knowledge, and confidence
Carroll, June C, Rideout, Andrea L, Wilson, Brenda J, Allanson, Judith Md, Blaine, Sean M, Esplen, Mary Jane, Farrell, Sandra A, Graham, Gail E, MacKenzie, Jennifer, Meschino, Wendy, Miller, Fiona, Prakash, Preeti, Shuman, Cheryl, Summers, Anne, Taylor, Sherry
Published in Canadian family physician (01.12.2009)
Get full text
Published in Canadian family physician (01.12.2009)
Journal Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
Daoud, Hussein, Luco, Stephanie M, Li, Rui, Bareke, Eric, Beaulieu, Chandree, Jarinova, Olga, Carson, Nancy, Nikkel, Sarah M, Graham, Gail E, Richer, Julie, Armour, Christine, Bulman, Dennis E, Chakraborty, Pranesh, Geraghty, Michael, Lines, Matthew A, Lacaze-Masmonteil, Thierry, Majewski, Jacek, Boycott, Kym M, Dyment, David A
Published in Canadian Medical Association journal (CMAJ) (09.08.2016)
Published in Canadian Medical Association journal (CMAJ) (09.08.2016)
Get full text
Journal Article
Implications pour les soins de santé de la Loi sur la non-discrimination génétique: La protection des renseignements génétiques des Canadiens
Cowan, James S., Kagedan, Barbara Laine, Graham, Gail E., Heim-Myers, Bev, Bombard, Yvonne
Published in Canadian family physician (01.09.2022)
Published in Canadian family physician (01.09.2022)
Get full text
Journal Article
Maternal age–based prenatal screening for chromosomal disorders Attitudes of women and health care providers toward changes
Carroll, June C, Rideout, Andrea, Wilson, Brenda J, Allanson, Judith, Blaine, Sean, Esplen, Mary Jane, Farrell, Sandra, Graham, Gail E, MacKenzie, Jennifer, Meschino, Wendy S, Prakash, Preeti, Shuman, Cheryl, Taylor, Sherry, Tobin, Stasey
Published in Canadian family physician (01.01.2013)
Get full text
Published in Canadian family physician (01.01.2013)
Journal Article
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
Get full text
Journal Article
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families
Jain, Vani, Foo, Seow Hoong, Chooi, Stephen, Moss, Celia, Goodwin, Richard, Berland, Siren, Clarke, Angus J, Davies, Sally J, Corrin, Sian, Murch, Oliver, Doyle, Samantha, Graham, Gail E, Greenhalgh, Lynn, Holder, Susan E, Johnson, Diana, Kumar, Ajith, Ladda, Roger L, Sell, Susan, Begtrup, Amber, Lynch, Sally A, McCann, Emma, Østern, Rune, Pottinger, Caroline, Splitt, Miranda, Fry, Andrew E
Published in European journal of human genetics : EJHG (01.12.2023)
Published in European journal of human genetics : EJHG (01.12.2023)
Get full text
Journal Article
Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature
Bhola, Priya T., Mishra, Radha, Posey, Jennifer E., Hamilton, Leslie E., Graham, Gail E., Punetha, Jaya, Lupski, James R., Boycott, Kym M., D'Amours, Damien, Kernohan, Kristin D.
Published in American journal of medical genetics. Part A (01.03.2024)
Published in American journal of medical genetics. Part A (01.03.2024)
Get full text
Journal Article