Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers
Deyell, Rebecca J., Shen, Yaoqing, Titmuss, Emma, Dixon, Katherine, Williamson, Laura M., Pleasance, Erin, Nelson, Jessica M. T., Abbasi, Sanna, Krzywinski, Martin, Armstrong, Linlea, Bonakdar, Melika, Ch’ng, Carolyn, Chuah, Eric, Dunham, Chris, Fok, Alexandra, Jones, Martin, Lee, Anna F., Ma, Yussanne, Moore, Richard A., Mungall, Andrew J., Mungall, Karen L., Rogers, Paul C., Schrader, Kasmintan A., Virani, Alice, Wee, Kathleen, Young, Sean S., Zhao, Yongjun, Jones, Steven J. M., Laskin, Janessa, Marra, Marco A., Rassekh, Shahrad R.
Published in Nature communications (16.05.2024)
Published in Nature communications (16.05.2024)
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De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome
Sleven, Hannah, Welsh, Seth J., Yu, Jing, Churchill, Mair E.A., Wright, Caroline F., Henderson, Alex, Horvath, Rita, Rankin, Julia, Vogt, Julie, Magee, Alex, McConnell, Vivienne, Green, Andrew, King, Mary D., Cox, Helen, Armstrong, Linlea, Lehman, Anna, Nelson, Tanya N., Williams, Jonathan, Clouston, Penny, Hagman, James, Németh, Andrea H.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Expanding the genotype-phenotype spectrum in SCN8A-related disorders
Hebbar, Malavika, Al-Taweel, Nawaf, Gill, Inderpal, Boelman, Cyrus, Dean, Richard A, Goodchild, Samuel J, Mezeyova, Janette, Shuart, Noah Gregory, Johnson, Jr, J P, Lee, James, Michoulas, Aspasia, Huh, Linda L, Armstrong, Linlea, Connolly, Mary B, Demos, Michelle K
Published in BMC neurology (17.01.2024)
Published in BMC neurology (17.01.2024)
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Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability
Zahir, Farah R, Mwenifumbo, Jill C, Chun, Hye-Jung E, Lim, Emilia L, Van Karnebeek, Clara D M, Couse, Madeline, Mungall, Karen L, Lee, Leora, Makela, Nancy, Armstrong, Linlea, Boerkoel, Cornelius F, Langlois, Sylvie L, McGillivray, Barbara M, Jones, Steven J M, Friedman, Jan M, Marra, Marco A
Published in BMC genomics (24.05.2017)
Published in BMC genomics (24.05.2017)
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GeneYenta: A PhenotypeBased Rare Disease Case Matching Tool Based on Online Dating Algorithms for the Acceleration of Exome Interpretation
Gottlieb, Michael M., Arenillas, David J., Maithripala, Savanie, Maurer, Zachary D., TarailoGraovac, Maja, Armstrong, Linlea, Patel, Millan, van Karnebeek, Clara, Wasserman, Wyeth W.
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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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)
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Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options
Elefteriou, Florent, Kolanczyk, Mateusz, Schindeler, Aaron, Viskochil, David H., Hock, Janet M., Schorry, Elizabeth K., Crawford, Alvin H., Friedman, Jan M., Little, David, Peltonen, Juha, Carey, John C., Feldman, David, Yu, Xijie, Armstrong, Linlea, Birch, Patricia, Kendler, David L., Mundlos, Stefan, Yang, Feng-Chun, Agiostratidou, Gina, Hunter-Schaedle, Kim, Stevenson, David A.
Published in American journal of medical genetics. Part A (01.10.2009)
Published in American journal of medical genetics. Part A (01.10.2009)
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P531: Developing the patient-reported Genetic testing Utility InDEx (P-GUIDE): Assessing value of genetic testing from patients’ perspectives in multiple clinical contexts
Poole, Elise, Luca, Stephanie, Assamad, Daniel, Xiao, Bowen, Yan, Joyce, Banglorewala, Pooja, Xia, Cheryl, Ungar, Wendy, Abbott, Lesleigh, Armstrong, Linlea, Birch, Patricia, Boycott, Kym, Carroll, June, Chad, Lauren, Chitayat, David, Denburg, Avram, Deyell, Rebecca, Elliott, Alison, Goudie, Catherine, Laberge, Anne-Marie, Maio, Melissa, Peltekova, Iskra, Quinlan, Becky, Sawyer, Sarah, Silver, Rachel, Smith, Maureen, Teitelbaum, Ronni, Villani, Anita, Wainstein, Tasha, Hayeems, Robin
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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The practice of genomic medicine: A delineation of the process and its governing principles
Handra, Julia, Elbert, Adrienne, Gazzaz, Nour, Moller-Hansen, Ashley, Hyunh, Stephanie, Lee, Hyun Kyung, Boerkoel, Pierre, Alderman, Emily, Anderson, Erin, Clarke, Lorne, Hamilton, Sara, Hamman, Ronnalea, Hughes, Shevaun, Ip, Simon, Langlois, Sylvie, Lee, Mary, Li, Laura, Mackenzie, Frannie, Patel, Millan S, Prentice, Leah M, Sangha, Karan, Sato, Laura, Seath, Kimberly, Seppelt, Margaret, Swenerton, Anne, Warnock, Lynn, Zambonin, Jessica L, Boerkoel, Cornelius F, Chin, Hui-Lin, Armstrong, Linlea
Published in Frontiers in medicine (12.01.2023)
Published in Frontiers in medicine (12.01.2023)
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Independent post-zygotic breaks of a dicentric chromosome result in mosaicism for an inverted duplication deletion 9p and terminal deletion 9p
Schlade-Bartusiak, Kamilla, Tucker, Tracy, Safavi, Holly, Livingston, Janet, van Allen, Margot I, Eydoux, Patrice, Armstrong, Linlea
Published in European journal of medical genetics (01.05.2013)
Published in European journal of medical genetics (01.05.2013)
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Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization
Friedman, Jm, Adam, Shelin, Arbour, Laura, Armstrong, Linlea, Baross, Agnes, Birch, Patricia, Boerkoel, Cornelius, Chan, Susanna, Chai, David, Delaney, Allen D, Flibotte, Stephane, Gibson, William T, Langlois, Sylvie, Lemyre, Emmanuelle, Li, H Irene, MacLeod, Patrick, Mathers, Joan, Michaud, Jacques L, McGillivray, Barbara C, Patel, Millan S, Qian, Hong, Rouleau, Guy A, Van Allen, Margot I, Yong, Siu-Li, Zahir, Farah R, Eydoux, Patrice, Marra, Marco A
Published in BMC genomics (16.11.2009)
Published in BMC genomics (16.11.2009)
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Lynch syndrome-chasing a better ascertainment rate in British Columbia
Cremin, Carol, Bashash, Morteza, Armstrong, Linlea, Gill, Sharlene, Huntsman, David, Bajdik, Chris
Published in Hereditary cancer in clinical practice (25.05.2010)
Published in Hereditary cancer in clinical practice (25.05.2010)
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Coaching the coaches: Employing role modeling and coaching as a faculty development strategy
Price, Ingrid, Hubinette, Maria, Armstrong, Linlea, Buckley, Heather
Published in Medical teacher (03.08.2021)
Published in Medical teacher (03.08.2021)
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Journal Article
The ACE D/D genotype is protective against the development of idiopathic deep vein thrombosis and pulmonary embolism
Wells, Philip S, Rodger, Marc A, Forgie, Melissa A, Langlois, Nicole J, Armstrong, Linlea, Carson, Nancy L, Jaffey, James
Published in Thrombosis and haemostasis (01.11.2003)
Published in Thrombosis and haemostasis (01.11.2003)
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Journal Article
Bye to burnout: intergenerational narratives break barriers
Yoo, Jaeyun, Matos, Meghan, Bota, Melissa, Schrewe, Brett, Armstrong, Linlea
Published in Medical education (01.05.2019)
Published in Medical education (01.05.2019)
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Journal Article
Exome Sequencing and the Management of Neurometabolic Disorders
Tarailo-Graovac, Maja, Shyr, Casper, Ross, Colin J, Horvath, Gabriella A, Salvarinova, Ramona, Ye, Xin C, Zhang, Lin-Hua, Bhavsar, Amit P, Lee, Jessica J.Y, Drögemöller, Britt I, Abdelsayed, Mena, Alfadhel, Majid, Armstrong, Linlea, Baumgartner, Matthias R, Burda, Patricie, Connolly, Mary B, Cameron, Jessie, Demos, Michelle, Dewan, Tammie, Dionne, Janis, Evans, A. Mark, Friedman, Jan M, Garber, Ian, Lewis, Suzanne, Ling, Jiqiang, Mandal, Rupasri, Mattman, Andre, McKinnon, Margaret, Michoulas, Aspasia, Metzger, Daniel, Ogunbayo, Oluseye A, Rakic, Bojana, Rozmus, Jacob, Ruben, Peter, Sayson, Bryan, Santra, Saikat, Schultz, Kirk R, Selby, Kathryn, Shekel, Paul, Sirrs, Sandra, Skrypnyk, Cristina, Superti-Furga, Andrea, Turvey, Stuart E, Van Allen, Margot I, Wishart, David, Wu, Jiang, Wu, John, Zafeiriou, Dimitrios, Kluijtmans, Leo, Wevers, Ron A, Eydoux, Patrice, Lehman, Anna M, Vallance, Hilary, Stockler-Ipsiroglu, Sylvia, Sinclair, Graham, Wasserman, Wyeth W, van Karnebeek, Clara D
Published in The New England journal of medicine (09.06.2016)
Published in The New England journal of medicine (09.06.2016)
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Journal Article
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Rivière, Jean-Baptiste, Mirzaa, Ghayda M, O'Roak, Brian J, Beddaoui, Margaret, Alcantara, Diana, Conway, Robert L, St-Onge, Judith, Schwartzentruber, Jeremy A, Gripp, Karen W, Nikkel, Sarah M, Worthylake, Thea, Sullivan, Christopher T, Ward, Thomas R, Butler, Hailly E, Kramer, Nancy A, Albrecht, Beate, Armour, Christine M, Armstrong, Linlea, Caluseriu, Oana, Cytrynbaum, Cheryl, Drolet, Beth A, Innes, A Micheil, Lauzon, Julie L, Lin, Angela E, Mancini, Grazia M S, Meschino, Wendy S, Reggin, James D, Saggar, Anand K, Lerman-Sagie, Tally, Uyanik, Gökhan, Weksberg, Rosanna, Zirn, Birgit, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Shendure, Jay, Graham, John M, Boycott, Kym M, Dobyns, William B
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
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