Rare-disease genetics in the era of next-generation sequencing: discovery to translation
Boycott, Kym M, Vanstone, Megan R, Bulman, Dennis E, MacKenzie, Alex E
Published in Nature reviews. Genetics (01.10.2013)
Published in Nature reviews. Genetics (01.10.2013)
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International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases
Boycott, Kym M., Rath, Ana, Chong, Jessica X., Hartley, Taila, Alkuraya, Fowzan S., Baynam, Gareth, Brookes, Anthony J., Brudno, Michael, Carracedo, Angel, den Dunnen, Johan T., Dyke, Stephanie O.M., Estivill, Xavier, Goldblatt, Jack, Gonthier, Catherine, Groft, Stephen C., Gut, Ivo, Hamosh, Ada, Hieter, Philip, Höhn, Sophie, Hurles, Matthew E., Kaufmann, Petra, Knoppers, Bartha M., Krischer, Jeffrey P., Macek, Milan, Matthijs, Gert, Olry, Annie, Parker, Samantha, Paschall, Justin, Philippakis, Anthony A., Rehm, Heidi L., Robinson, Peter N., Sham, Pak-Chung, Stefanov, Rumen, Taruscio, Domenica, Unni, Divya, Vanstone, Megan R., Zhang, Feng, Brunner, Han, Bamshad, Michael J., Lochmüller, Hanns
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
Aref-Eshghi, Erfan, Rodenhiser, David I., Schenkel, Laila C., Lin, Hanxin, Skinner, Cindy, Ainsworth, Peter, Paré, Guillaume, Hood, Rebecca L., Bulman, Dennis E., Kernohan, Kristin D., Boycott, Kym M., Campeau, Philippe M., Schwartz, Charles, Sadikovic, Bekim
Published in American journal of human genetics (04.01.2018)
Published in American journal of human genetics (04.01.2018)
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Journal Article
Cost-effectiveness of genome-wide sequencing for unexplained developmental disabilities and multiple congenital anomalies
Li, Chunmei, Vandersluis, Stacey, Holubowich, Corinne, Ungar, Wendy J, Goh, Elaine S, Boycott, Kym M, Sikich, Nancy, Dhalla, Irfan, Ng, Vivian
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Journal Article
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
DENG, Han-Xiang, CHEN, Wenjie, HUJUN JIANG, HIRANO, Makito, RAMPERSAUD, Evadnie, JANSEN, Gerard H, DONKERVOORT, Sandra, BIGIO, Eileen H, BROOKS, Benjamin R, AJROUD, Kaouther, SUFIT, Robert L, HAINES, Jonathan L, HONG, Seong-Tshool, MUGNAINI, Enrico, PERICAK-VANCE, Margaret A, SIDDIQUE, Teepu, BOYCOTT, Kym M, GORRIE, George H, SIDDIQUE, Nailah, YI YANG, FECTO, Faisal, YONG SHI, HONG ZHAI
Published in Nature (London) (08.09.2011)
Published in Nature (London) (08.09.2011)
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SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park, Julien H., Hogrebe, Max, Grüneberg, Marianne, DuChesne, Ingrid, von der Heiden, Ava L., Reunert, Janine, Schlingmann, Karl P., Boycott, Kym M., Beaulieu, Chandree L., Mhanni, Aziz A., Innes, A. Micheil, Hörtnagel, Konstanze, Biskup, Saskia, Gleixner, Eva M., Kurlemann, Gerhard, Fiedler, Barbara, Omran, Heymut, Rutsch, Frank, Wada, Yoshinao, Tsiakas, Konstantinos, Santer, René, Nebert, Daniel W., Rust, Stephan, Marquardt, Thorsten
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article
Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype
Sawyer, Sarah L, Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A, Innes, A Micheil, Boycott, Kym M, Moreau, Lisa A, Moilanen, Jukka S, Greenberg, Roger A
Published in Cancer discovery (01.02.2015)
Published in Cancer discovery (01.02.2015)
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Journal Article
Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8
Boycott, Kym M., Beaulieu, Chandree L., Kernohan, Kristin D., Gebril, Ola H., Mhanni, Aziz, Chudley, Albert E., Redl, David, Qin, Wen, Hampson, Sarah, Küry, Sébastien, Tetreault, Martine, Puffenberger, Erik G., Scott, James N., Bezieau, Stéphane, Reis, André, Uebe, Steffen, Schumacher, Johannes, Hegele, Robert A., McLeod, D. Ross, Gálvez-Peralta, Marina, Majewski, Jacek, Ramaekers, Vincent T., Nebert, Daniel W., Innes, A. Micheil, Parboosingh, Jillian S., Abou Jamra, Rami
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway
Acuna-Hidalgo, Rocio, Schanze, Denny, Kariminejad, Ariana, Nordgren, Ann, Kariminejad, Mohamad Hasan, Conner, Peter, Grigelioniene, Giedre, Nilsson, Daniel, Nordenskjöld, Magnus, Wedell, Anna, Freyer, Christoph, Wredenberg, Anna, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Kayserili, Hülya, Elcioglu, Nursel, Ghaderi-Sohi, Siavash, Goodarzi, Payman, Setayesh, Hamidreza, van de Vorst, Maartje, Steehouwer, Marloes, Pfundt, Rolph, Krabichler, Birgit, Curry, Cynthia, MacKenzie, Malcolm G., Boycott, Kym M., Gilissen, Christian, Janecke, Andreas R., Hoischen, Alexander, Zenker, Martin
Published in American journal of human genetics (04.09.2014)
Published in American journal of human genetics (04.09.2014)
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Journal Article
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
Vanstone, Jason R, Smith, Amanda M, McBride, Skye, Naas, Turaya, Holcik, Martin, Antoun, Ghadi, Harper, Mary-Ellen, Michaud, Jean, Sell, Erick, Chakraborty, Pranesh, Tetreault, Martine, Majewski, Jacek, Baird, Stephen, Boycott, Kym M, Dyment, David A, MacKenzie, Alex, Lines, Matthew A
Published in European journal of human genetics : EJHG (01.07.2016)
Published in European journal of human genetics : EJHG (01.07.2016)
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Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
Hood, Rebecca L., Lines, Matthew A., Nikkel, Sarah M., Schwartzentruber, Jeremy, Beaulieu, Chandree, Nowaczyk, Małgorzata J.M., Allanson, Judith, Kim, Chong Ae, Wieczorek, Dagmar, Moilanen, Jukka S., Lacombe, Didier, Gillessen-Kaesbach, Gabriele, Whiteford, Margo L., Quaio, Caio Robledo D.C., Gomy, Israel, Bertola, Debora R., Albrecht, Beate, Platzer, Konrad, McGillivray, George, Zou, Ruobing, McLeod, D. Ross, Chudley, Albert E., Chodirker, Bernard N., Marcadier, Janet, Majewski, Jacek, Bulman, Dennis E., White, Susan M., Boycott, Kym M.
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes
Aref-Eshghi, Erfan, Bend, Eric G, Hood, Rebecca L, Schenkel, Laila C, Carere, Deanna Alexis, Chakrabarti, Rana, Nagamani, Sandesh C S, Cheung, Sau Wai, Campeau, Philippe M, Prasad, Chitra, Siu, Victoria Mok, Brady, Lauren, Tarnopolsky, Mark A, Callen, David J, Innes, A Micheil, White, Susan M, Meschino, Wendy S, Shuen, Andrew Y, Paré, Guillaume, Bulman, Dennis E, Ainsworth, Peter J, Lin, Hanxin, Rodenhiser, David I, Hennekam, Raoul C, Boycott, Kym M, Schwartz, Charles E, Sadikovic, Bekim
Published in Nature communications (20.11.2018)
Published in Nature communications (20.11.2018)
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Journal Article
A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis
Cheung, Yee Him, Gayden, Tenzin, Campeau, Philippe M., LeDuc, Charles A., Russo, Donna, Nguyen, Van-Hung, Guo, Jiancheng, Qi, Ming, Guan, Yanfang, Albrecht, Steffen, Moroz, Brenda, Eldin, Karen W., Lu, James T., Schwartzentruber, Jeremy, Malkin, David, Berghuis, Albert M., Emil, Sherif, Gibbs, Richard A., Burk, David L., Vanstone, Megan, Lee, Brendan H., Orchard, David, Boycott, Kym M., Chung, Wendy K., Jabado, Nada
Published in American journal of human genetics (06.06.2013)
Published in American journal of human genetics (06.06.2013)
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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia
Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J, Alshahrani, Sultanah, Duker, Angela L, Li, Jingjing, Carroll, Ricki S, Mackenzie, Stuart, Nikkel, Sarah M, Bober, Michael B, Boycott, Kym M, Murshed, Monzur
Published in Nature communications (30.04.2024)
Published in Nature communications (30.04.2024)
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Journal Article
Mutations in EZH2 Cause Weaver Syndrome
Gibson, William T., Hood, Rebecca L., Zhan, Shing Hei, Bulman, Dennis E., Fejes, Anthony P., Moore, Richard, Mungall, Andrew J., Eydoux, Patrice, Babul-Hirji, Riyana, An, Jianghong, Marra, Marco A., Chitayat, David, Boycott, Kym M., Weaver, David D., Jones, Steven J.M.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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Journal Article
Mutations in PIK3R1 Cause SHORT Syndrome
Dyment, David A., Smith, Amanda C., Alcantara, Diana, Schwartzentruber, Jeremy A., Basel-Vanagaite, Lina, Curry, Cynthia J., Temple, I. Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R., Gilbert, Rodney, Lehmann, Ordan J., Vanstone, Megan R., Beaulieu, Chandree L., Majewski, Jacek, Bulman, Dennis E., O’Driscoll, Mark, Boycott, Kym M., Innes, A. Micheil
Published in American journal of human genetics (11.07.2013)
Published in American journal of human genetics (11.07.2013)
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Journal Article
Future of Rare Diseases Research 2017–2027: An IRDiRC Perspective
Austin, Christopher P., Cutillo, Christine M., Lau, Lilian P.L., Jonker, Anneliene H., Rath, Ana, Julkowska, Daria, Thomson, David, Terry, Sharon F., Montleau, Béatrice, Ardigò, Diego, Hivert, Virginie, Boycott, Kym M., Baynam, Gareth, Kaufmann, Petra, Taruscio, Domenica, Lochmüller, Hanns, Suematsu, Makoto, Incerti, Carlo, Draghia‐Akli, Ruxandra, Norstedt, Irene, Wang, Lu, Dawkins, Hugh J.S.
Published in Clinical and translational science (01.01.2018)
Published in Clinical and translational science (01.01.2018)
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Mutations in C5ORF42 Cause Joubert Syndrome in the French Canadian Population
Srour, Myriam, Schwartzentruber, Jeremy, Hamdan, Fadi F., Ospina, Luis H., Patry, Lysanne, Labuda, Damian, Massicotte, Christine, Dobrzeniecka, Sylvia, Capo-Chichi, José-Mario, Papillon-Cavanagh, Simon, Samuels, Mark E., Boycott, Kym M., Shevell, Michael I., Laframboise, Rachel, Désilets, Valérie, Maranda, Bruno, Rouleau, Guy A., Majewski, Jacek, Michaud, Jacques L.
Published in American journal of human genetics (06.04.2012)
Published in American journal of human genetics (06.04.2012)
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