Exploring genotype-phenotype correlations in CREBBP: comment on the literature and description of an additional patient with an atypical outcome von Vincent, Krista M, Graham, Gail E

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Mutations in the NHEJ Component XRCC4 Cause Primordial Dwarfism von 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.

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Health care implications of the Genetic Non-Discrimination Act: Protection for Canadians’ genetic information von Cowan, James S., Kagedan, Barbara Laine, Graham, Gail E., Heim-Myers, Bev, Bombard, Yvonne

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

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

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Implications pour les soins de santé de la Loi sur la non-discrimination génétique: La protection des renseignements génétiques des Canadiens von Cowan, James S., Kagedan, Barbara Laine, Graham, Gail E., Heim-Myers, Bev, Bombard, Yvonne

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

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An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome von 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

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A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC) von Bhola, Priya T., Gilpin, Cathy, Smith, Amanda, Graham, Gail E.

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Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia von 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

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A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care von Bhola, Priya T, Liddy, Clare, Afkham, Amir, Keely, Erin, Graham, Gail E

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

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Similar values, different expectations: How do patients and providers view ‘health’ and perceive the healthcare experience? von Natafgi, Nabil, Ladeji, Olayinka, Blackwell, Shanikque, Hong, Yoon Duk, Graham, Gail, Cort, Marcia, Mullins, C. Daniel

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Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families von 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

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Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature von 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.

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Use of eConsult to enhance genetics service delivery in primary care: A multimethod study von Carroll, June C., Liddy, Clare, Afkham, Amir, Keely, Erin, Goh, Elaine S., Graham, Gail E., Permaul, Joanne A., Allanson, Judith, Heisey, Ruth, Makuwaza, Tutsirai, Manca, Donna P., O’Brien, Mary Ann, Grunfeld, Eva

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A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype von Vincent, Krista Marie, Stavropoulos, Dimitri J., Beaulieu‐Bergeron, Melanie, Yang, Chen, Jiang, Mary, Zuijdwijk, Caroline, Dyment, David A., Graham, Gail E.

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

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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome von 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

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

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