Pathogenicity of two COQ7 mutations and responses to 2,4‐dihydroxybenzoate bypass treatment

por Wang, Ying, Smith, Christopher, Parboosingh, Jillian S., Khan, Aneal, Innes, Micheil, Hekimi, Siegfried
Publicado 2017

Optimizing genotype quality metrics for individual exomes and cohort analysis

por Gordon, Paul MK, Dimnik, Leo, Lamont, Ryan, Innes, Micheil, Bernier, Francois, Parboosingh, Jillian
Publicado 2012

Effects of Six-Month Aerobic Exercise Intervention on Sleep in Healthy Older Adults in the Brain in Motion Study: A Pilot Study

por Guadagni, Veronica, Clark, Cameron M., Tyndall, Amanda, Raneri, Jill K., Parboosingh, Jillian S., Hogan, David B., Hanly, Patrick J., Poulin, Marc J.
Publicado 2018

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

por Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Publicado 2016

CCMG practice guideline: laboratory guidelines for next-generation sequencing

por Hume, Stacey, Nelson, Tanya N, Speevak, Marsha, McCready, Elizabeth, Agatep, Ron, Feilotter, Harriet, Parboosingh, Jillian, Stavropoulos, Dimitri J, Taylor, Sherryl, Stockley, Tracy L
Publicado 2019

Hnrnpul1 controls transcription, splicing, and modulates skeletal and limb development in vivo

por Blackwell, Danielle L, Fraser, Sherri D, Caluseriu, Oana, Vivori, Claudia, Tyndall, Amanda V, Lamont, Ryan E, Parboosingh, Jillian S, Innes, A Micheil, Bernier, François P, Childs, Sarah J
Publicado 2022

Genetic Risk, Vascular Function, and Subjective Cognitive Complaints Predict Objective Cognitive Function in Healthy Older Adults: Results From the Brain in Motion Study

por Tyndall, Amanda V., Longman, R. Stewart, Sajobi, Tolulope T., Parboosingh, Jillian S., Drogos, Lauren L., Davenport, Margie H., Eskes, Gail A., Hogan, David B., Hill, Michael D., Poulin, Marc J.
Publicado 2020

Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

por Grafodatskaya, Daria, O’Rielly, Darren D, Bedard, Karine, Butcher, Darci T, Howlett, Christopher J, Lytwyn, Alice, McCready, Elizabeth, Parboosingh, Jillian, Spriggs, Elizabeth L, Vaags, Andrea K, Stockley, Tracy L
Publicado 2022

Alberta Spinal Muscular Atrophy Newborn Screening—Results from Year 1 Pilot Project

por Niri, Farshad, Nicholls, Jessie, Baptista Wyatt, Kelly, Walker, Christine, Price, Tiffany, Kelln, Rhonda, Hume, Stacey, Parboosingh, Jillian, Lilley, Margaret, Kolski, Hanna, Ridsdale, Ross, Muranyi, Andrew, Mah, Jean K., Bulman, Dennis E.
Publicado 2023

The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing

por Zhou, Janet R., Ridsdale, Ross, MacNeil, Lauren, Lilley, Margaret, Hoang, Stephanie, Christian, Susan, Blumenschein, Pamela, Wolan, Vanessa, Bruce, Aisha, Singh, Gurpreet, Wright, Nicola, Parboosingh, Jillian S., Lamont, Ryan E., Sosova, Iveta
Publicado 2021

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists

por Lazier, Joanna, Hartley, Taila, Brock, Jo-Ann, Caluseriu, Oana, Chitayat, David, Laberge, Anne-Marie, Langlois, Sylvie, Lauzon, Julie, Nelson, Tanya N, Parboosingh, Jillian, Stavropoulos, Dimitri J, Boycott, Kym, Armour, Christine M
Publicado 2022

An Algorithm Measuring Donor Cell-Free DNA in Plasma of Cellular and Solid Organ Transplant Recipients That Does Not Require Donor or Recipient Genotyping

por Gordon, Paul M. K., Khan, Aneal, Sajid, Umair, Chang, Nicholas, Suresh, Varun, Dimnik, Leo, Lamont, Ryan E., Parboosingh, Jillian S., Martin, Steven R., Pon, Richard T., Weatherhead, Jene, Wegener, Shelly, Isaac, Debra, Greenway, Steven C.
Publicado 2016

Cardiometabolic risk factors predict cerebrovascular health in older adults: results from the Brain in Motion study

por Tyndall, Amanda V., Argourd, Laurie, Sajobi, Tolulope T., Davenport, Margie H., Forbes, Scott C., Gill, Stephanie J., Parboosingh, Jillian S., Anderson, Todd J., Wilson, Ben J., Smith, Eric E., Hogan, David B., Hill, Michael D., Poulin, Marc J.
Publicado 2016

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

por Zhao, Tian, Goedhart, Caitlin M, Sam, Pingdewinde N, Sabouny, Rasha, Lingrell, Susanne, Cornish, Adam J, Lamont, Ryan E, Bernier, Francois P, Sinasac, David, Parboosingh, Jillian S, Vance, Jean E, Claypool, Steven M, Innes, A Micheil, Shutt, Timothy E
Publicado 2019

Intellectual disability associated with a homozygous missense mutation in THOC6

por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M
Publicado 2013

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

por Almutawa, Walaa, Smith, Christopher, Sabouny, Rasha, Smit, Ryan B., Zhao, Tian, Wong, Rachel, Lee-Glover, Laurie, Desrochers-Goyette, Justine, Ilamathi, Hema Saranya, Suchowersky, Oksana, Germain, Marc, Mains, Paul E., Parboosingh, Jillian S., Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Publicado 2019

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

por Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., McLeod, D. Ross, Kirk, Edwin P., Hoover-Fong, Julie, Fleming, Leah, Savarirayan, Ravi, Majewski, Jacek, Jerome-Majewska, Loydie A., Parboosingh, Jillian S., Bernier, Francois P.
Publicado 2014

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

por O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Publicado 2015

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

por Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.
Publicado 2015

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

por Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M
Publicado 2014