Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Authors: Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Scott, C. Ron, Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Ganetzky, Rebecca, Kranz, Peter G., Sondheimer, Neal, Markert, M. Louise, Sadeghpour, Azita, Roehrs, Philip, Arbogast, Thomas, Muraresku, Colleen, Tyndall, Amanda V., Esser, Michael J., Woodward, Kristine E., Ping-Yee Au, Billie, Parboosingh, Jillian S., Lamont, Ryan E., Bernier, Francois P., Wright, Nicola A.M., Benseler, Susa M., Parsons, Simon J., El-Dairi, Mays, Valdez, Purnima, Tennison, Michael, Innes, A. Micheil, Davis, Erica E.

Source: In Genetics in Medicine September 2023 25(9)

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Authors: Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O'Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D'Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone

Source: American journal of human genetics. 108(2):357-367

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100135343905.0x000001&indx=1&recIds=ETOCvdc_100135343905.0x000001

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

Authors: 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.

Source: In EBioMedicine July 2019 45:379-392

Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies

Authors: Lamont, Ryan E., Xi, Yanwei, Popko, Claire, Lazier, Joanna, Bernier, Francois P., Lauzon, Julie L., Innes, A. Micheil, Parboosingh, Jillian S., Thomas, Mary Ann ^*

Source: In Journal of Obstetrics and Gynaecology Canada November 2018 40(11):1417-1423

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Authors: Lebo, Matthew S., Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D., Waye, John S., McCready, Elizabeth, Parboosingh, Jillian S., Lamont, Ryan E., Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young, Sean, Karsan, Aly, Charames, George S., Agatep, Ronald, Spriggs, Elizabeth L., Chisholm, Caitlin, Vasli, Nasim, Daoud, Hussein, Jarinova, Olga, Tomaszewski, Robert, Hume, Stacey, Taylor, Sherryl, Akbari, Mohammad R., Lerner-Ellis, Jordan, Agatep, Ron, Ainsworth, Peter, Aronson, Melyssa, Basran, Raveen, Blavier, Andre, Blumenthal, Andrea, Boycott, Kym, Brudno, Michael, Buckley, Kathleen, Campbell, Jodi, M. Campeau, Philippe, Care, Melanie, Carson, Nancy, Carter, Ronald, Charames, George, Chitayat, David, Chong, George, Chouinard, Edmond, Craddock, Kenneth J., Docking, Rod, Eisen, Andrea, Faghfoury, Hanna, Farrell, Sandra, Fernandez, Bridget, Fiume, Marc, Forster-Gibson, Cynthia, Friedman, Jan, Foulkes, William, Goodhand, Peter, Gu, Jessica, Hegele, Robert, Holter, Spring, Horsburgh, Sheri, Hughes, Lauren, Jewett, Franny, Junker, Anne, Khalouei, Sam, Knoll, Joan, Kolomeitz, Elena, Knoppers, Bartha, Lamont, Ryan, Lebo, Matthew, Maire, Georges, Marshall, Christian, Mitchell, Grant, J Moorhouse, Michael, Morel, Chantal, Nelson, Tanya, Noor, Abdul, O'Connor, Brian, O'Rielly, Darren, Ouellette, Francis, Parboosingh, Jillian, Racher, Hilary, Ray, Peter, Rehm, Heidi, Riddell, Christie, Riviere, Jean-Baptiste, Rosenblatt, David S., Rouleau, Guy, Ruchon, Andrea, Sabatini, Peter, Sadikovic, Bekim, Semotiuk, Kara, Scherer, Stephen W., Shuman, Cheryl, Silver, Josh, Siminovitch, Katherine, Solomon-Izsak, Lesley, Soucy, Jean-Francois, Speevak, Marsha, Stavropoulos, James, Stein, Lincoln, Tannenbaum, Rhonda, Terespolsky, Deborah, Wintle, Richard F., Wong, Beatrix, Wong, Nora, Wang, Marina, Watkins, Nicholas, White, Shana, Woods, Michael O., Wyatt, Philip

Source: In Genetics in Medicine March 2018 20(3):294-302

Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Authors: Lebo, Matthew S, Zakoor, Kathleen-Rose, Chun, Kathy, Speevak, Marsha D, Waye, John S, McCready, Elizabeth, Parboosingh, Jillian S, Lamont, Ryan E, Feilotter, Harriet, Bosdet, Ian, Tucker, Tracy, Young, Sean, Karsan, Aly, Charames, George S, Agatep, Ronald, Spriggs, Elizabeth L, Chisholm, Caitlin, Vasli, Nasim, Daoud, Hussein, Jarinova, Olga, Tomaszewski, Robert, Hume, Stacey, Taylor, Sherryl, Akbari, Mohammad R, Lerner-Ellis, Jordan

Source: Genetics in medicine. 20(3):294-302

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100129949967.0x000001&indx=1&recIds=ETOCvdc_100129949967.0x000001

Evidence of association between sleep quality and APOE ε4 in healthy older adults

Authors: Drogos, Lauren L., Gill, Stephanie J., Tyndall, Amanda V., Raneri, Jill K., Parboosingh, Jillian S., Naef, Aileen, Guild, Kyle D., Eskes, Gail, Hanly, Patrick J., Poulin, Marc J.

Source: Neurology. 87(17):1836-1842

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100036698510.0x000001&indx=1&recIds=ETOCvdc_100036698510.0x000001

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Authors: Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.

Source: In The American Journal of Human Genetics 9 December 2011 89(6):713-730

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Authors: Bernier, Francois P., Caluseriu, O., Ng, S., Schwartzentruber, J., Buckingham, Kati J., Innes, A., Jabs, E., Innis, Jeffrey W., Schuette, Jane L., Gorski, Jerome L., Byers, Peter H., Andelfinger, G., Siu, V., Lauzon, J., Fernandez, Bridget A., McMillin, M., Scott, Richard H., Racher, H., Majewski, J., Nickerson, Deborah A., Shendure, J., Bamshad, Michael J., Parboosingh, Jillian S.

Source: AMERICAN JOURNAL OF HUMAN GENETICS. 90(5):925-933

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN311410724&indx=1&recIds=ETOCRN311410724

Two De Novo Mutations in an Autistic Child Who Had Previously Undergone Transplantation for Dilated Cardiomyopathy: The Importance of Keeping an Open Mind

Authors: Sajid, Umair, Argiropoulos, Bob, Wei, Xing-Chang, Parboosingh, Jillian S., Lamont, Ryan E., Khan, Aneal, Greenway, Steven C.

Source: Canadian journal of cardiology. 33(2):292.e5-292.e7

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100051963862.0x000001&indx=1&recIds=ETOCvdc_100051963862.0x000001

Identification of Archaeological Animal Bone by PCR/DNA Analysis

Authors: Newman, Margaret E., Parboosingh, Jillian S., Bridge, Peter J., Ceri, Howard

Source: In Journal of Archaeological Science January 2002 29(1):77-84

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

Authors: 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.

Source: Frontiers in Integrative Neuroscience; 11/3/2020, Vol. 14, pN.PAG-N.PAG, 9p

Subject Terms: VERBAL memory, OLDER people, COGNITIVE ability, COGNITION disorders, COGNITIVE aging, ALZHEIMER'S disease

De novo variants in MPP5 cause global developmental delay and behavioral changes.

Authors: Sterling, Noelle, Duncan, Anna R, Park, Raehee, Koolen, David A, Shi, Jiahai, Cho, Seo-Hee, Benke, Paul J, Grant, Patricia E, Genetti, Casie A, VanNoy, Grace E, Juusola, Jane, McWalter, Kirsty, Parboosingh, Jillian S, Lamont, Ryan E, Bernier, Francois P, Smith, Christopher, Harris, David J, Stegmann, Alexander P A, Innes, A Micheil, Kim, Seonhee

Source: Human Molecular Genetics; Oct2020, Vol. 29 Issue 20, p3388-3401, 14p

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

Authors: 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.

Source: In The American Journal of Human Genetics 3 December 2015 97(6):922-932

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8

Authors: 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

Source: In The American Journal of Human Genetics 3 December 2015 97(6):886-893

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Authors: Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.

Source: In The American Journal of Human Genetics 3 December 2015 97(6):862-868

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