Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a SYNGAP1 likely pathogenic variant

por Sabatini, Peter J. B., Ejaz, Resham, Stavropoulos, Dimitri J., Mendoza-Londono, Roberto, Joseph-George, Ann M.
Publicado 2018

A rare unbalanced translocation (trisomy 5q33.3‐qter, monosomy 13q34‐qter) results in growth hormone deficiency and brain anomalies

por Joynt, Alyssa C. M., Deshwar, Ashish R., Zon, Jessica, Dupuis, Lucie, Wherrett, Diane K., Mendoza‐Londono, Roberto
Publicado 2021

Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome

por Coles, Nicole, Comeau, Ian, Munoz, Tatiana, Harrington, Jennifer, Mendoza-Londono, Roberto, Schulze, Andreas, Kives, Sari, Kamath, Binita M., Hamilton, Jill
Publicado 2019

The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder

por Marwaha, Ashish, Costain, Gregory, Cytrynbaum, Cheryl, Mendoza‐Londono, Roberto, Chad, Lauren, Awamleh, Zain, Chater‐Diehl, Eric, Choufani, Sanaa, Weksberg, Rosanna
Publicado 2022

COG5 variants lead to complex early onset retinal degeneration, upregulation of PERK and DNA damage

por Tabbarah, Sami, Tavares, Erika, Charish, Jason, Vincent, Ajoy, Paterson, Andrew, Di Scipio, Matteo, Yin, Yue, Mendoza-Londono, Roberto, Maynes, Jason, Heon, Elise, Monnier, Philippe P.
Publicado 2020

Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study

por Mercimek-Mahmutoglu, Saadet, Sidky, Sarah, Hyland, Keith, Patel, Jaina, Donner, Elizabeth J, Logan, William, Mendoza-Londono, Roberto, Moharir, Mahendranath, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Yoon, Grace, Kyriakopoulou, Lianna
Publicado 2015

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

por Purandare, Smita M, Mendoza-Londono, Roberto, Yatsenko, Svetlana A, Napierala, Dobrawa, Scott, Daryl A, Sibai, Tarek, Casas, Kari, Wilson, Patrick, Lee, Jiyun, Muneer, Razia, Leonard, Joe C, Ramji, Faridali G, Lachman, Ralph, Li, Shibo, Stankiewicz, Pawel, Lee, Brendan, Mulvihill, John J
Publicado 2008

Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario

por Hayeems, Robin Z., Marshall, Christian R., Gillespie, Meredith K., Szuto, Anna, Chisholm, Caitlin, Stavropoulos, Dimitri J., Venkataramanan, Viji, Tsiplova, Kate, Sawyer, Sarah, Price, E. Magda, Lau, Lynette, Khan, Reem, Lee, Whiwon, Huang, Lijia, Jarinova, Olga, Ungar, Wendy J., Mendoza-Londono, Roberto, Somerville, Martin J., Boycott, Kym M.
Publicado 2022

Trio RNA sequencing in a cohort of medically complex children

por Deshwar, Ashish R., Yuki, Kyoko E., Hou, Huayun, Liang, Yijing, Khan, Tayyaba, Celik, Alper, Ramani, Arun, Mendoza-Londono, Roberto, Marshall, Christian R., Brudno, Michael, Shlien, Adam, Meyn, M. Stephen, Hayeems, Robin Z., McKinlay, Brandon J., Klentrou, Panagiota, Wilson, Michael D., Kyriakopoulou, Lianna, Costain, Gregory, Dowling, James J.
Publicado 2023

Heterozygous nonsense variants in the ferritin heavy-chain gene FTH1 cause a neuroferritinopathy

por Shieh, Joseph T., Tintos-Hernandez, Jesus A., Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C., Phillips, Joanna J., Alves, César A.P.F., Dmochowski, Ivan J., Ortiz-González, Xilma R.
Publicado 2023

Heterozygous Nonsense Variants in the Ferritin Heavy Chain Gene FTH1 Cause a Novel Pediatric Neuroferritinopathy

por Shieh, Joseph T, Tintos-Hernández, Jesus A, Murali, Chaya N., Penon-Portmann, Monica, Flores-Mendez, Marco, Santana, Adrian, Bulos, Joshua A., Du, Kang, Dupuis, Lucie, Damseh, Nadirah, Mendoza-Londoño, Roberto, Berera, Camilla, Lee, Julieann C, Phillips, Joanna J, Alves, César A P F, Dmochowski, Ivan J, Ortiz-González, Xilma R
Publicado 2023

CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions

por Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna
Publicado 2017

New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome

por Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna
Publicado 2019

Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity

por Costain, Gregory, Walker, Susan, Marano, Maria, Veenma, Danielle, Snell, Meaghan, Curtis, Meredith, Luca, Stephanie, Buera, Jason, Arje, Danielle, Reuter, Miriam S., Thiruvahindrapuram, Bhooma, Trost, Brett, Sung, Wilson W. L., Yuen, Ryan K. C., Chitayat, David, Mendoza-Londono, Roberto, Stavropoulos, D. James, Scherer, Stephen W., Marshall, Christian R., Cohn, Ronald D., Cohen, Eyal, Orkin, Julia, Meyn, M. Stephen, Hayeems, Robin Z.
Publicado 2020

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

por Boycott, Kym, Hartley, Taila, Adam, Shelin, Bernier, Francois, Chong, Karen, Fernandez, Bridget A, Friedman, Jan M, Geraghty, Michael T, Hume, Stacey, Knoppers, Bartha M, Laberge, Anne-Marie, Majewski, Jacek, Mendoza-Londono, Roberto, Meyn, M Stephen, Michaud, Jacques L, Nelson, Tanya N, Richer, Julie, Sadikovic, Bekim, Skidmore, David L, Stockley, Tracy, Taylor, Sherry, van Karnebeek, Clara, Zawati, Ma'n H, Lauzon, Julie, Armour, Christine M
Publicado 2015

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

por Martin, Carol-Anne, Ahmad, Ilyas, Klingseisen, Anna, Hussain, Muhammad Sajid, Bicknell, Louise S, Leitch, Andrea, Nürnberg, Gudrun, Toliat, Mohammad Reza, Murray, Jennie E, Hunt, David, Khan, Fawad, Ali, Zafar, Tinschert, Sigrid, Ding, James, Keith, Charlotte, Harley, Margaret E, Heyn, Patricia, Müller, Rolf, Hoffmann, Ingrid, Cormier-Daire, Valérie, Dollfus, Hélène, Dupuis, Lucie, Bashamboo, Anu, McElreavey, Kenneth, Kariminejad, Ariana, Mendoza-Londono, Roberto, Moore, Anthony T, Saggar, Anand, Schlechter, Catie, Weleber, Richard, Thiele, Holger, Altmüller, Janine, Höhne, Wolfgang, Hurles, Matthew E, Noegel, Angelika Anna, Baig, Shahid Mahmood, Nürnberg, Peter, Jackson, Andrew P
Publicado 2014

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

por Choufani, Sanaa, Gibson, William T., Turinsky, Andrei L., Chung, Brian H.Y., Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana S.A., Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M., Lynch, Sally Ann, Clericuzio, Carol, Temple, I. Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M., Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W., Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, Weksberg, Rosanna
Publicado 2020

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

por Minatogawa, Mari, Unzaki, Ai, Morisaki, Hiroko, Syx, Delfien, Sonoda, Tohru, Janecke, Andreas R, Slavotinek, Anne, Voermans, Nicol C, Lacassie, Yves, Mendoza-Londono, Roberto, Wierenga, Klaas J, Jayakar, Parul, Gahl, William A, Tifft, Cynthia J, Figuera, Luis E, Hilhorst-Hofstee, Yvonne, Maugeri, Alessandra, Ishikawa, Ken, Kobayashi, Tomoko, Aoki, Yoko, Ohura, Toshihiro, Kawame, Hiroshi, Kono, Michihiro, Mochida, Kosuke, Tokorodani, Chiho, Kikkawa, Kiyoshi, Morisaki, Takayuki, Kobayashi, Tetsuyuki, Nakane, Takaya, Kubo, Akiharu, Ranells, Judith D, Migita, Ohsuke, Sobey, Glenda, Kaur, Anupriya, Ishikawa, Masumi, Yamaguchi, Tomomi, Matsumoto, Naomichi, Malfait, Fransiska, Miyake, Noriko, Kosho, Tomoki
Publicado 2022

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test

por Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R
Publicado 2018

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

por Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R
Publicado 2016