A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care

gan Bhola, Priya T., Liddy, Clare, Afkham, Amir, Keely, Erin, Graham, Gail E.
Cyhoeddwyd yn Eur J Hum Genet (2019)

Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

gan Elia, Nathaniel, Nault, Trystan, McMillan, Hugh J., Graham, Gail E., Huang, Lijia, Cannon, Stephen C.
Cyhoeddwyd yn Front Neurol (2020)

Corrigendum: Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

gan Elia, Nathaniel, Nault, Trystan, McMillan, Hugh J., Graham, Gail E., Huang, Lijia, Cannon, Stephen C.
Cyhoeddwyd yn Front Neurol (2020)

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

gan Violette, Philippe D., Kamel-Reid, Suzanne, Graham, Gail E., Reaume, M. Neil, Jewett, Michael A., Care, Melanie, Basiuk, Joan, Pautler, Stephen E.
Cyhoeddwyd yn Can Urol Assoc J (2014)

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

gan Unolt, Marta, Kammoun, Molka, Nowakowska, Beata, Graham, Gail E., Crowley, T. Blaine, Hestand, Matthew S., Demaerel, Wolfram, Geremek, Maciej, Emanuel, Beverly S., Zackai, Elaine H., Vermeesch, Joris R., McDonald-McGinn, Donna
Cyhoeddwyd yn Genet Med (2019)

Maternal age–based prenatal screening for chromosomal disorders: Attitudes of women and health care providers toward changes

gan 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
Cyhoeddwyd 2013

An Attenuated Phenotype of Costello Syndrome in Three Unrelated Individuals with a HRAS c.179G>A (p.Gly60Asp) Correlates with Uncommon Functional Consequences

gan Gripp, Karen W., Sol-Church, Katia, Smpokou, Patroula, Graham, Gail E., Stevenson, David A., Hanson, Heather, Viskochil, David H., Baker, Laura C., Russo, Bridget, Gardner, Nick, Stabley, Deborah L., Kolbe, Verena, Rosenberger, Georg
Cyhoeddwyd yn Am J Med Genet A (2015)

17p13.3 microduplications are associated with split-hand/foot malformation and long-bone deficiency (SHFLD)

gan Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E
Cyhoeddwyd 2011

Genetic education for primary care providers: Improving attitudes, knowledge, and confidence

gan 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
Cyhoeddwyd 2009

Deletion of MAP2K2/MEK2: A novel mechanism for a RASopathy?

gan Nowaczyk, Małgorzata J.M., Thompson, Brandi A., Zeesman, Susan, Moog, Ute, Sanchez-Lara, Pedro A., Magoulas, Pilar L., Falk, Rena E., Fong, Julie Hoover, Batista, Denise A.S., Amudhavalli, Shivarajan M., White, Sue M., Graham, Gail E., Rauen, Katherine A.
Cyhoeddwyd yn Clin Genet (2013)

Phenotypic spectrum of Au–Kline syndrome: a report of six new cases and review of the literature

gan 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
Cyhoeddwyd yn Eur J Hum Genet (2018)

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

gan Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Cyhoeddwyd 2011

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit

gan 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.
Cyhoeddwyd yn CMAJ (2016)

Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience

gan 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.
Cyhoeddwyd 2014

Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2015)

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

gan Tyson, Christine, Qiao, Ying, Harvard, Chansonette, Liu, Xudong, Bernier, Francois P, McGillivray, Barbara, Farrell, Sandra A, Arbour, Laura, Chudley, Albert E, Clarke, Lorne, Gibson, William, Dyack, Sarah, McLeod, Ross, Costa, Teresa, VanAllen, Margot I, Yong, Siu-li, Graham, Gail E, MacLeod, Patrick, Patel, Millan S, Hurlburt, Jane, Holden, Jeanette JA, Lewis, Suzanne ME, Rajcan-Separovic, Evica
Cyhoeddwyd 2008

Mutations in the human GlyT2 gene define a presynaptic component of human startle disease

gan Rees, Mark I., Harvey, Kirsten, Pearce, Brian R., Chung, Seo-Kyung, Duguid, Ian C., Thomas, Philip, Beatty, Sarah, Graham, Gail E., Armstrong, Linlea, Shiang, Rita, Abbott, Kim J., Zuberi, Sameer M., Stephenson, John B.P., Owen, Michael J., Tijssen, Marina A.J., van den Maagdenberg, Arn M.J.M., Smart, Trevor G., Supplisson, Stéphane, Harvey, Robert J.
Cyhoeddwyd 2006

Canadian guideline on genetic screening for hereditary renal cell cancers

gan Reaume, M. Neil, Graham, Gail E., Tomiak, Eva, Kamel-Reid, Suzanne, Jewett, Michael A.S., Bjarnason, Georg A., Blais, Normand, Care, Melanie, Drachenberg, Darryl, Gedye, Craig, Grant, Ronald, Heng, Daniel Y.C., Kapoor, Anil, Kollmannsberger, Christian, Lattouf, Jean-Baptiste, Maher, Eamonn R., Pause, Arnim, Ruether, Dean, Soulieres, Denis, Tanguay, Simon, Turcotte, Sandra, Violette, Philippe D., Wood, Lori, Basiuk, Joan, Pautler, Stephen E.
Cyhoeddwyd 2013

Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

gan 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.
Cyhoeddwyd 2012

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression

gan 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.
Cyhoeddwyd yn Genet Med (2016)