45 results on '"Hewson, Stacy"'
Search Results
2. De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
- Author
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Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, and Wagner, Matias
- Published
- 2024
- Full Text
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3. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
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Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn 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., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan 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, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
- Published
- 2024
- Full Text
- View/download PDF
4. Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population
- Author
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Dickson, Megan A., Zahavich, Laura, Rush, Janet, Hewson, Stacy, Chitayat, David, McCrindle, Brian W., and Chahal, Nita
- Published
- 2023
- Full Text
- View/download PDF
5. Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review
- Author
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Al Bandari, Maria, primary, Nagy, Laura, additional, Cruz, Vivian, additional, Hewson, Stacy, additional, Hossain, Alomgir, additional, and Inbar-Feigenberg, Michal, additional
- Published
- 2024
- Full Text
- View/download PDF
6. A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy
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Ni, Min, Afroze, Bushra, Xing, Chao, Pan, Chunxiao, Shao, Yanqiu, Cai, Ling, Cantarel, Brandi L., Pei, Jimin, Grishin, Nick V., Hewson, Stacy, Knight, Devon, Mahida, Sonal, Michel, Donnice, Tarnopolsky, Mark, Poduri, Annapurna, Rotenberg, Alexander, Sondheimer, Neal, and DeBerardinis, Ralph J.
- Published
- 2021
- Full Text
- View/download PDF
7. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants
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Allen, James P, primary, Garber, Kathryn B, additional, Perszyk, Riley, additional, Khayat, Cara T, additional, Kell, Steven A, additional, Kaneko, Maki, additional, Quindipan, Catherine, additional, Saitta, Sulagna, additional, Ladda, Roger L, additional, Hewson, Stacy, additional, Inbar-Feigenberg, Michal, additional, Prasad, Chitra, additional, Prasad, Asuri N, additional, Olewiler, Leah, additional, Mu, Weiyi, additional, Rosenthal, Liana S, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Zara, Federico, additional, McCullock, Tyler W, additional, Jauss, Robin-Tobias, additional, Lemke, Johannes R, additional, MacLean, David M, additional, Zhu, Cheng, additional, Yuan, Hongjie, additional, Myers, Scott J, additional, and Traynelis, Stephen F, additional
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- 2023
- Full Text
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8. Biallelic CRELD1 variants cause a multisystem syndrome including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
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Jeffries, Lauren, primary, Mis, Emily K., additional, McWalter, Kirsty, additional, Donkervoort, Sandra, additional, Brodsky, Nina N., additional, Carpier, Jean-Marie, additional, Ji, Weizhen, additional, Ionita, Cristian, additional, Roy, Bhaskar, additional, Morrow, Jon S., additional, Darbinyan, Armine, additional, Iyer, Krishna, additional, Aul, Ritu B., additional, Banka, Siddharth, additional, Chao, Katherine R., additional, Cobbold, Laura, additional, Cohen, Stacey, additional, Custodio, Helena M., additional, Drummond-Borg, Margaret, additional, Elmslie, Frances, additional, Finanger, Erika, additional, Hainline, Bryan E., additional, Helbig, Ingo, additional, Hewson, Stacy, additional, Hu, Ying, additional, Jackson, Adam, additional, Josifova, Dragana, additional, Konstantino, Monica, additional, Leach, Meganne E., additional, Mak, Bryan, additional, McCormick, David, additional, McGee, Elisabeth, additional, Nelson, Stanley, additional, Nguyen, Joanne, additional, Nugent, Kimberly, additional, Ortega, Lucy, additional, Goodkin, Howard P., additional, Roeder, Elizabeth, additional, Roy, Sani, additional, Sapp, Katie, additional, Saade, Dimah, additional, Sisodiya, Sanjay M., additional, Stals, Karen, additional, Towner, Shelley, additional, Wilson, William, additional, Khokha, Mustafa K., additional, Bönnemann, Carsten G., additional, Lucas, Carrie L., additional, Lakhani, Saquib A., additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Agrawal, Pankaj B., additional, Alejandro, Mercedes E., additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Boyd, Brenna, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chanprasert, Sirisak, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D'Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Deardorff, Matthew, additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Falk, Marni, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Findley, Laurie C., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Gutierrez, Irma, additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kennedy, Jennifer, additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C Christopher, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Christine V Malicdan, May, additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nakano-Okuno, Mariko, additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Rao, Deepak A., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rosenwasser, Natalie, additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Sharma, Prashant, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solem, Emily, additional, Solnica-Krezel, Lilianna, additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Tucker, Brianna M., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-Kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Wenger, Tara, additional, Perry, Katherine Wesseling, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, Ambrose, J.C., additional, Arumugam, P., additional, Baple, E.L., additional, Bleda, M., additional, Boardman-Pretty, F., additional, Boissiere, J.M., additional, Boustred, C.R., additional, Caulfield, M.J., additional, Chan, G.C., additional, Craig, C.E.H., additional, Daugherty, L.C., additional, de Burca, A., additional, Devereau, A., additional, Elgar, G., additional, Foulger, R.E., additional, Fowler, T., additional, FurióTarí, P., additional, Hackett, J.M., additional, Halai, D., additional, Hamblin, A., additional, Henderson, S., additional, Holman, J.E., additional, Hubbard, T.J.P., additional, Ibáñez, K., additional, Jackson, R., additional, Jones, L.J., additional, Kasperaviciute, D., additional, Kayikci, M., additional, Lahnstein, L., additional, Lawson, K., additional, Leigh, S.E.A., additional, Leong, I.U.S., additional, Lopez, F.J., additional, MaleadyCrowe, F., additional, Mason, J., additional, McDonagh, E.M., additional, Moutsianas, L., additional, Mueller, M., additional, Murugaesu, N., additional, Need, A.C., additional, Odhams, C.A., additional, Patch, C., additional, Perez-Gil, D., additional, Polychronopoulos, D., additional, Pullinger, J., additional, Rahim, T., additional, Rendon, A., additional, Riesgo-Ferreiro, P., additional, Rogers, T., additional, Ryten, M., additional, Savage, K., additional, Sawant, K., additional, Scott, R.H., additional, Siddiq, A., additional, Sieghart, A., additional, Smedley, D., additional, Smith, K.R., additional, Sosinsky, A., additional, Spooner, W., additional, Stevens, H.E., additional, Stuckey, A., additional, Sultana, R., additional, Thomas, E.R.A., additional, Thompson, S.R., additional, Tucci, A., additional, Walsh, E., additional, Watters, S.A., additional, Welland, M.J., additional, Williams, E., additional, and Witkowska, K., additional
- Published
- 2023
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9. Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
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Allen, James P, Garber, Kathryn B, Perszyk, Riley, Khayat, Cara T, Kell, Steven A, Kaneko, Maki, Quindipan, Catherine, Saitta, Sulagna, Ladda, Roger L, Hewson, Stacy, Inbar-Feigenberg, Michal, Prasad, Chitra, Prasad, Asuri N, Olewiler, Leah, Mu, Weiyi, Rosenthal, Liana S, Scala, Marcello, Striano, Pasquale, Zara, Federico, and McCullock, Tyler W
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- 2024
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10. A Cross-Sectional Study of Nemaline Myopathy
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Amburgey, Kimberly, Acker, Meryl, Saeed, Samia, Amin, Reshma, Beggs, Alan H., Bönnemann, Carsten G., Brudno, Michael, Constantinescu, Andrei, Dastgir, Jahannaz, Diallo, Mamadou, Genetti, Casie A., Glueck, Michael, Hewson, Stacy, Hum, Courtney, Jain, Minal S., Lawlor, Michael W., Meyer, Oscar H., Nelson, Leslie, Sultanum, Nicole, Syed, Faiza, Tran, Tuyen, Wang, Ching H., and Dowling, James J.
- Published
- 2021
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11. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature
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Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, Jr., John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., and Juusola, Jane
- Published
- 2019
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12. Mitochondrial POLG related disorder presenting prenatally with fetal cerebellar growth arrest
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Inbar-Feigenberg, Michal, Blaser, Susan, Hawkins, Cynthia, Shannon, Patrick, Hewson, Stacy, and Chitayat, David
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- 2018
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13. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing
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Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M. Stephen, Stavropoulos, Dimitri J., Scherer, Stephen W., Mendoza-Londono, Roberto, and Marshall, Christian R.
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- 2018
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14. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
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Oh, Rachel Youjin, primary, Deshwar, Ashish R., additional, Marwaha, Ashish, additional, Sabha, Nesrin, additional, Tropak, Michael, additional, Hou, Huayun, additional, Yuki, Kyoko E., additional, Wilson, Michael D., additional, Rump, Patrick, additional, Lunsing, Roelineke, additional, Elserafy, Noha, additional, Chung, Clara W.T., additional, Hewson, Stacy, additional, Klein-Rodewald, Tanja, additional, Calzada-Wack, Julia, additional, Sanz-Moreno, Adrián, additional, Kraiger, Markus, additional, Marschall, Susan, additional, Fuchs, Helmut, additional, Gailus-Durner, Valerie, additional, Hrabe de Angelis, Martin, additional, Dowling, James, additional, and Schulze, Andreas, additional
- Published
- 2022
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15. The Clinician-reported Genetic testing Utility InDEx (C-GUIDE): Preliminary evidence of validity and reliability
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Hayeems, Robin Z., primary, Luca, Stephanie, additional, Ungar, Wendy J., additional, Venkataramanan, Viji, additional, Tsiplova, Kate, additional, Bashir, Naazish S., additional, Costain, Gregory, additional, Inglese, Cara, additional, McNiven, Vanda, additional, Quercia, Nada, additional, Shugar, Andrea, additional, Yoon, Grace, additional, Cytrynbaum, Cheryl, additional, Dupuis, Lucie, additional, Shao, Zhuo, additional, Hewson, Stacy, additional, Shuman, Cheryl, additional, Aul, Ritu, additional, Liston, Eriskay, additional, Babul-Hirji, Riyana, additional, Bushby, Alexandra, additional, Pullenayegum, Eleanor, additional, Chad, Lauren, additional, and Meyn, M. Stephen, additional
- Published
- 2022
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16. Extended Phenotyping and Functional Validation Facilitate Diagnosis of a Complex Patient Harboring Genetic Variants in MCCC1 and GNB5 Causing Overlapping Phenotypes
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Shao, Zhuo, primary, Masuho, Ikuo, additional, Tumber, Anupreet, additional, Maynes, Jason T., additional, Tavares, Erika, additional, Ali, Asim, additional, Hewson, Stacy, additional, Schulze, Andreas, additional, Kannu, Peter, additional, Martemyanov, Kirill A., additional, and Vincent, Ajoy, additional
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- 2021
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17. Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
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Mercimek-Mahmutoglu, Saadet, Patel, Jaina, Cordeiro, Dawn, Hewson, Stacy, Callen, David, Donner, Elizabeth J., Hahn, Cecil D., Kannu, Peter, Kobayashi, Jeff, Minassian, Berge A., Moharir, Mahendranath, Siriwardena, Komudi, Weiss, Shelly K., Weksberg, Rosanna, and Snead, Carter O., III
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- 2015
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18. Biallelic loss-of-function variants in RABGAP1cause a novel neurodevelopmental syndrome
- Author
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Oh, Rachel Youjin, Deshwar, Ashish R., Marwaha, Ashish, Sabha, Nesrin, Tropak, Michael, Hou, Huayun, Yuki, Kyoko E., Wilson, Michael D., Rump, Patrick, Lunsing, Roelineke, Elserafy, Noha, Chung, Clara W.T., Hewson, Stacy, Klein-Rodewald, Tanja, Calzada-Wack, Julia, Sanz-Moreno, Adrián, Kraiger, Markus, Marschall, Susan, Fuchs, Helmut, Gailus-Durner, Valerie, Hrabe de Angelis, Martin, Dowling, James, and Schulze, Andreas
- Abstract
RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1.
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- 2022
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19. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency
- Author
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Roifman, Maian; https://orcid.org/0000-0001-9858-155X, Niles, Kirsten M, MacNeil, Lauren; https://orcid.org/0000-0003-3827-7147, Blaser, Susan, Noor, Abdul, Godoy, Ruth, van Mieghem, Tim, Ryan, Greg, Seaward, Gareth, Sondheimer, Neal, Mercimek-Andrews, Saadet, Schulze, Andreas, Hewson, Stacy, Ovadia, Adi, Chitayat, David, Morgen, Eric K, Hojilla, Carlo, Kolomietz, Elena, Watkins, Nicholas, Häberle, Johannes; https://orcid.org/0000-0003-0635-091X, Shannon, Patrick, Roifman, Maian; https://orcid.org/0000-0001-9858-155X, Niles, Kirsten M, MacNeil, Lauren; https://orcid.org/0000-0003-3827-7147, Blaser, Susan, Noor, Abdul, Godoy, Ruth, van Mieghem, Tim, Ryan, Greg, Seaward, Gareth, Sondheimer, Neal, Mercimek-Andrews, Saadet, Schulze, Andreas, Hewson, Stacy, Ovadia, Adi, Chitayat, David, Morgen, Eric K, Hojilla, Carlo, Kolomietz, Elena, Watkins, Nicholas, Häberle, Johannes; https://orcid.org/0000-0003-0635-091X, and Shannon, Patrick
- Abstract
Glutamine synthetase (GS) is the enzyme responsible for the biosynthesis of glutamine, providing the only source of endogenous glutamine necessary for several critical metabolic and developmental pathways. GS deficiency, caused by pathogenic variants in the glutamate-ammonia ligase (GLUL) gene, is a rare autosomal recessive inborn error of metabolism characterized by systemic glutamine deficiency, persistent moderate hyperammonemia, and clinically devastating seizures and multi-organ failure shortly after birth. The four cases reported thus far were caused by homozygous GLUL missense variants. We report a case of GS deficiency caused by homozygous GLUL gene deletion, diagnosed prenatally and likely representing the most severe end of the spectrum. We expand the known phenotype of this rare condition with novel dysmorphic, radiographic and neuropathologic features identified on post-mortem examination. The biallelic deletion identified in this case also included the RNASEL gene and was associated with immune dysfunction in the fetus. This case demonstrates that total absence of the GLUL gene in humans is viable beyond the embryonic period, despite the early embryonic lethality found in GLUL animal models.
- Published
- 2020
20. The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort
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Alsowat, Daad, primary, Whitney, Robyn, additional, Hewson, Stacy, additional, Jain, Puneet, additional, Chan, Valerie, additional, Kabir, Nadia, additional, Amburgey, Kimberly, additional, Noone, Damien, additional, Lemaire, Mathieu, additional, McCoy, Blathnaid, additional, and Zak, Maria, additional
- Published
- 2021
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21. Outcomes of patients with cobalamin C deficiency: A single center experience
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Bourque, Danielle K., primary, Mellin‐Sanchez, Lizbeth E., additional, Bullivant, Garrett, additional, Cruz, Vivian, additional, Feigenbaum, Anette, additional, Hewson, Stacy, additional, Raiman, Julian, additional, Schulze, Andreas, additional, Siriwardena, Komudi, additional, and Mercimek‐Andrews, Saadet, additional
- Published
- 2020
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22. HomozygousGLULdeletion is embryonically viable and leads to glutamine synthetase deficiency
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Roifman, Maian, primary, Niles, Kirsten M., additional, MacNeil, Lauren, additional, Blaser, Susan, additional, Noor, Abdul, additional, Godoy, Ruth, additional, Mieghem, Tim, additional, Ryan, Greg, additional, Seaward, Gareth, additional, Sondheimer, Neal, additional, Mercimek‐Andrews, Saadet, additional, Schulze, Andreas, additional, Hewson, Stacy, additional, Ovadia, Adi, additional, Chitayat, David, additional, Morgen, Eric K., additional, Hojilla, Carlo, additional, Kolomietz, Elena, additional, Watkins, Nicholas, additional, Häberle, Johannes, additional, and Shannon, Patrick, additional
- Published
- 2020
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23. Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study
- Author
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Eva Mamak, Joe T.R. Clarke, Hewson Stacy, Susan Blaser, Saadet Mercimek-Mahmutoglu, Jaina Patel, Christel Tran, Julian Raiman, and Hanna Faghfoury
- Subjects
Male ,0301 basic medicine ,endocrine system ,Pathology ,medicine.medical_specialty ,Pediatrics ,endocrine system diseases ,medicine.medical_treatment ,Hematopoietic stem cell transplantation ,Asymptomatic ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Adrenal insufficiency ,medicine ,Humans ,Family history ,Adrenoleukodystrophy ,Retrospective Studies ,Leukodystrophy ,Retrospective cohort study ,General Medicine ,medicine.disease ,030104 developmental biology ,Addison's disease ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.symptom ,Psychology ,030217 neurology & neurosurgery ,Cohort study - Abstract
Background X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder associated with leukodystrophy, myeloneuropathy and adrenocortical insufficiency. We performed a retrospective cohort study to evaluate long-term outcome of patients with X-ALD. Method All patients with X-ALD diagnosed between 1989 and 2012 were included. Electronic patient charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, neuroimaging, long-term outcome and treatment. Results Forty-eight patients from 18 unrelated families were included (15 females; 33 males). Seventeen patients were symptomatic at the time of the biochemical diagnosis including 14 with neurocognitive dysfunction and 3 with Addison disease only. Thirty-one asymptomatic individuals were identified by positive family history of X-ALD. During follow-up, eight individuals developed childhood cerebral X-ALD (CCALD), one individual developed adrenomyeloneuropathy (AMN), six individuals developed Addison disease only, and five individuals remained asymptomatic. Direct sequencing of ABCD1 confirmed the genetic diagnosis in 29 individuals. Seven patients with CCALD underwent hematopoietic stem cell transplantation (HSCT). Nine patients lost the follow-up. There was no correlation between clinical severity score, Loes score and elevated degree of elevated very long chain fatty acid (VLCFA) levels in CCALD. Conclusion Our study reports forty-eight new patients with X-ALD and their long-term outcome. Only 35% of the patients presented with neurological features or Addison disease. The remaining individuals were identified due to positive family history. Close monitoring of asymptomatic males resulted in early HSCT to prevent progressive lethal neurodegenerative disease. Identification of patients with X-ALD is important to improve neurodevelopmental outcome of asymptomatic males.
- Published
- 2017
24. ALU transposition induces familial hypertrophic cardiomyopathy
- Author
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Nfonsam, Landry, primary, Huang, Lijia, additional, Carson, Nancy, additional, McGowan‐Jordan, Jean, additional, Beaulieu Bergeron, Melanie, additional, Goobie, Sharan, additional, Conacher, Susan, additional, McCarty, David, additional, Benson, Lee, additional, Hewson, Stacy, additional, Zahavich, Laura, additional, Sinclair‐Bourque, Elizabeth, additional, Smith, Amanda, additional, Potter, Ryan, additional, Ghani, Mahdi, additional, Bronicki, Lucas, additional, and Jarinova, Olga, additional
- Published
- 2019
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25. Outcomes of patients with cobalamin C deficiency: A single center experience.
- Author
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Bourque, Danielle K., Mellin‐Sanchez, Lizbeth E., Bullivant, Garrett, Cruz, Vivian, Feigenbaum, Anette, Hewson, Stacy, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, and Mercimek‐Andrews, Saadet
- Published
- 2021
- Full Text
- View/download PDF
26. Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
- Author
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Roifman, Maian, Niles, Kirsten M., MacNeil, Lauren, Blaser, Susan, Noor, Abdul, Godoy, Ruth, Mieghem, Tim, Ryan, Greg, Seaward, Gareth, Sondheimer, Neal, Mercimek‐Andrews, Saadet, Schulze, Andreas, Hewson, Stacy, Ovadia, Adi, Chitayat, David, Morgen, Eric K., Hojilla, Carlo, Kolomietz, Elena, Watkins, Nicholas, and Häberle, Johannes
- Subjects
GLUTAMINE synthetase ,INBORN errors of metabolism ,DELETION mutation ,DYSTROPHY ,AUTOPSY ,ALLELES ,RECESSIVE genes ,BIOSYNTHESIS - Abstract
Glutamine synthetase (GS) is the enzyme responsible for the biosynthesis of glutamine, providing the only source of endogenous glutamine necessary for several critical metabolic and developmental pathways. GS deficiency, caused by pathogenic variants in the glutamate‐ammonia ligase (GLUL) gene, is a rare autosomal recessive inborn error of metabolism characterized by systemic glutamine deficiency, persistent moderate hyperammonemia, and clinically devastating seizures and multi‐organ failure shortly after birth. The four cases reported thus far were caused by homozygous GLUL missense variants. We report a case of GS deficiency caused by homozygous GLUL gene deletion, diagnosed prenatally and likely representing the most severe end of the spectrum. We expand the known phenotype of this rare condition with novel dysmorphic, radiographic and neuropathologic features identified on post‐mortem examination. The biallelic deletion identified in this case also included the RNASEL gene and was associated with immune dysfunction in the fetus. This case demonstrates that total absence of the GLUL gene in humans is viable beyond the embryonic period, despite the early embryonic lethality found in GLUL animal models. [ABSTRACT FROM AUTHOR]
- Published
- 2020
- Full Text
- View/download PDF
27. Biallelic CRELD1variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections
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Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Banka, Siddharth, Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Elmslie, Frances, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Josifova, Dragana, Konstantino, Monica, Leach, Meganne E., Mak, Bryan, McCormick, David, McGee, Elisabeth, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn 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., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan 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, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.
- Abstract
We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor–like domains 1 (CRELD1) gene variants.
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- 2024
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28. De novo variants in RNF213are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke
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Brunet, Theresa, Zott, Benedikt, Lieftüchter, Victoria, Lenz, Dominic, Schmidt, Axel, Peters, Philipp, Kopajtich, Robert, Zaddach, Malin, Zimmermann, Hanna, Hüning, Irina, Ballhausen, Diana, Staufner, Christian, Bianzano, Alyssa, Hughes, Joanne, Taylor, Robert W., McFarland, Robert, Devlin, Anita, Mihaljević, Mihaela, Barišić, Nina, Rohlfs, Meino, Wilfling, Sibylle, Sondheimer, Neal, Hewson, Stacy, Marinakis, Nikolaos M., Kosma, Konstantina, Traeger-Synodinos, Joanne, Elbracht, Miriam, Begemann, Matthias, Trepels-Kottek, Sonja, Hasan, Dimah, Scala, Marcello, Capra, Valeria, Zara, Federico, van der Ven, Amelie T., Driemeyer, Joenna, Apitz, Christian, Krämer, Johannes, Strong, Alanna, Hakonarson, Hakon, Watson, Deborah, Mayr, Johannes A., Prokisch, Holger, Meitinger, Thomas, Borggraefe, Ingo, Spiegler, Juliane, Baric, Ivo, Paolini, Marco, Gerstl, Lucia, and Wagner, Matias
- Abstract
RNF213, encoding a giant E3 ubiquitin ligase, has been recognized for its role as a key susceptibility gene for moyamoya disease. Case reports have also implicated specific variants in RNF213with an early-onset form of moyamoya disease with full penetrance. We aimed to expand the phenotypic spectrum of monogenic RNF213-related disease and to evaluate genotype-phenotype correlations.
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- 2024
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29. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
- Author
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Lionel, Anath C., primary, Costain, Gregory, additional, Monfared, Nasim, additional, Walker, Susan, additional, Reuter, Miriam S., additional, Hosseini, S. Mohsen, additional, Thiruvahindrapuram, Bhooma, additional, Merico, Daniele, additional, Jobling, Rebekah, additional, Nalpathamkalam, Thomas, additional, Pellecchia, Giovanna, additional, Sung, Wilson W.L., additional, Wang, Zhuozhi, additional, Bikangaga, Peter, additional, Boelman, Cyrus, additional, Carter, Melissa T., additional, Cordeiro, Dawn, additional, Cytrynbaum, Cheryl, additional, Dell, Sharon D., additional, Dhir, Priya, additional, Dowling, James J., additional, Heon, Elise, additional, Hewson, Stacy, additional, Hiraki, Linda, additional, Inbar-Feigenberg, Michal, additional, Klatt, Regan, additional, Kronick, Jonathan, additional, Laxer, Ronald M., additional, Licht, Christoph, additional, MacDonald, Heather, additional, Mercimek-Andrews, Saadet, additional, Mendoza-Londono, Roberto, additional, Piscione, Tino, additional, Schneider, Rayfel, additional, Schulze, Andreas, additional, Silverman, Earl, additional, Siriwardena, Komudi, additional, Snead, O. Carter, additional, Sondheimer, Neal, additional, Sutherland, Joanne, additional, Vincent, Ajoy, additional, Wasserman, Jonathan D., additional, Weksberg, Rosanna, additional, Shuman, Cheryl, additional, Carew, Chris, additional, Szego, Michael J., additional, Hayeems, Robin Z., additional, Basran, Raveen, additional, Stavropoulos, Dimitri J., additional, Ray, Peter N., additional, Bowdin, Sarah, additional, Meyn, M. Stephen, additional, Cohn, Ronald D., additional, Scherer, Stephen W., additional, and Marshall, Christian R., additional
- Published
- 2018
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30. A multidisciplinary approach to the transition of adolescents with a lysosomal disorder from a pediatric to an adult health care centre
- Author
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Hewson, Stacy, primary, Mackrell, Margaret, additional, Mecija, Michelle, additional, and Inbar-Feigenberg, Michal, additional
- Published
- 2018
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- View/download PDF
31. Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic
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Hewson, Stacy, primary, Brunga, Ledia, additional, Ojeda, Matilde Fernandez, additional, Imhof, Elizabeth, additional, Patel, Jaina, additional, Zak, Maria, additional, Donner, Elizabeth J., additional, Kobayashi, Jeff, additional, Salomons, Gajja S., additional, and Mercimek-Andrews, Saadet, additional
- Published
- 2017
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32. Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ 10 deficiency
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Sondheimer, Neal, primary, Hewson, Stacy, additional, Cameron, Jessie M., additional, Somers, Gino R., additional, Broadbent, Jane Dunning, additional, Ziosi, Marcello, additional, Quinzii, Catarina Maria, additional, and Naini, Ali B., additional
- Published
- 2017
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33. Variable expressivity of a likely pathogenic variant in KCNQ2 in a three‐generation pedigree presenting with intellectual disability with childhood onset seizures
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Hewson, Stacy, primary, Puka, Klajdi, additional, and Mercimek‐Mahmutoglu, Saadet, additional
- Published
- 2017
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- View/download PDF
34. Genetics providers’ perspectives on the use of digital tools in clinical practice
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Lee, Whiwon, Hirjikaka, Daena, Grewal, Sonya, Shaw, Angela, Luca, Stephanie, Clausen, Marc, Bombard, Yvonne, Hayeems, Robin Z., Bombard, Yvonne, Hayeems, Robin Z., Aronson, Melyssa, Bernier, Francois, Brudno, Michael, Carroll, June C., Chad, Lauren, Clausen, Marc, Cohn, Ronald, Costain, Gregory, Dhalla, Irfan, Faghfoury, Hanna, Friedman, Jan, Hewson, Stacy, Jamieson, Trevor, Jobling, Rebekah, Kodida, Rita, Laberge, Anne-Marie, Lerner-Ellis, Jordan, Liston, Eriskay, Luca, Stephanie, Mamdani, Muhammad, Marshall, Christian R., Osmond, Matthew, Pham, Quynh, Reble, Emma, Rudzicz, Frank, Seto, Emily, Shastri-Estrada, Serena, Shuman, Cheryl, Silver, Josh, Smith, Maureen, Thorpe, Kevin, and Ungar, Wendy J.
- Abstract
Digital tools are increasingly incorporated into genetics practice to address challenges with the current model of care. Yet, genetics providers’ perspectives on digital tool use are not well characterized.
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- 2024
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35. Bone marrow transplantation treatment for a 4year old asymptomatic patient with metachromatic leukodystrophy (MLD)
- Author
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Inbar-Feigenberg, Michal, primary, Hewson, Stacy, additional, and Raiman, Julian, additional
- Published
- 2016
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- View/download PDF
36. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine
- Author
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Stavropoulos, Dimitri J, primary, Merico, Daniele, additional, Jobling, Rebekah, additional, Bowdin, Sarah, additional, Monfared, Nasim, additional, Thiruvahindrapuram, Bhooma, additional, Nalpathamkalam, Thomas, additional, Pellecchia, Giovanna, additional, Yuen, Ryan K C, additional, Szego, Michael J, additional, Hayeems, Robin Z, additional, Shaul, Randi Zlotnik, additional, Brudno, Michael, additional, Girdea, Marta, additional, Frey, Brendan, additional, Alipanahi, Babak, additional, Ahmed, Sohnee, additional, Babul-Hirji, Riyana, additional, Porras, Ramses Badilla, additional, Carter, Melissa T, additional, Chad, Lauren, additional, Chaudhry, Ayeshah, additional, Chitayat, David, additional, Doust, Soghra Jougheh, additional, Cytrynbaum, Cheryl, additional, Dupuis, Lucie, additional, Ejaz, Resham, additional, Fishman, Leona, additional, Guerin, Andrea, additional, Hashemi, Bita, additional, Helal, Mayada, additional, Hewson, Stacy, additional, Inbar-Feigenberg, Michal, additional, Kannu, Peter, additional, Karp, Natalya, additional, Kim, Raymond H, additional, Kronick, Jonathan, additional, Liston, Eriskay, additional, MacDonald, Heather, additional, Mercimek-Mahmutoglu, Saadet, additional, Mendoza-Londono, Roberto, additional, Nasr, Enas, additional, Nimmo, Graeme, additional, Parkinson, Nicole, additional, Quercia, Nada, additional, Raiman, Julian, additional, Roifman, Maian, additional, Schulze, Andreas, additional, Shugar, Andrea, additional, Shuman, Cheryl, additional, Sinajon, Pierre, additional, Siriwardena, Komudi, additional, Weksberg, Rosanna, additional, Yoon, Grace, additional, Carew, Chris, additional, Erickson, Raith, additional, Leach, Richard A, additional, Klein, Robert, additional, Ray, Peter N, additional, Meyn, M Stephen, additional, Scherer, Stephen W, additional, Cohn, Ronald D, additional, and Marshall, Christian R, additional
- Published
- 2016
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37. Variants in TCF20in neurodevelopmental disability: description of 27 new patients and review of literature
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Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., and Juusola, Jane
- Abstract
To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.
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- 2019
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38. Abdominal pain and mucosal hyperplasia of the gallbladder leading to a diagnosis of metachromatic leukodystrophy (MLD)
- Author
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Hewson, Stacy, primary, Taylor, Glenn, additional, and Raiman, Julian, additional
- Published
- 2015
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- View/download PDF
39. The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada
- Author
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Roscher, Anne, primary, Patel, Jaina, additional, Hewson, Stacy, additional, Nagy, Laura, additional, Feigenbaum, Annette, additional, Kronick, Jonathan, additional, Raiman, Julian, additional, Schulze, Andreas, additional, Siriwardena, Komudi, additional, and Mercimek-Mahmutoglu, Saadet, additional
- Published
- 2014
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40. Expansion of the known phenotype for mitochondrial translation elongation factor G1 (EGF1) due to GFM1 mutations
- Author
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Nasr, Enas N., primary, Mikkilineni, Soumya, additional, Hewson, Stacy, additional, Blaser, Susan, additional, Feigenbaum, Annette, additional, and Siriwardena, Komudi, additional
- Published
- 2014
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41. ALU transposition induces familial hypertrophic cardiomyopathy.
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Nfonsam, Landry, Huang, Lijia, Carson, Nancy, McGowan‐Jordan, Jean, Beaulieu Bergeron, Melanie, Goobie, Sharan, Conacher, Susan, McCarty, David, Benson, Lee, Hewson, Stacy, Zahavich, Laura, Sinclair‐Bourque, Elizabeth, Smith, Amanda, Potter, Ryan, Ghani, Mahdi, Bronicki, Lucas, and Jarinova, Olga
- Subjects
HYPERTROPHIC cardiomyopathy ,LEFT ventricular hypertrophy ,PATHOLOGY ,HEART murmurs ,VASOMOTOR conditioning - Abstract
Background: Hypertrophic cardiomyopathy (HCM) is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiovascular conditions. Pathogenic variants in at least 16 cardiac sarcomeric genes have been implicated in HCM, most of which act in a dominant‐negative fashion. However loss‐of‐function (haploinsufficiency) is the most common disease mechanism for pathogenic variants in MYBPC3, suggesting that MYBPC3 complete deletion may play a role in HCM pathogenesis. Here, we investigate MYBPC3 complete deletion as a disease mechanism in HCM by analyzing two unrelated patients with confirmed diagnosis of HCM that tested negative by Sanger sequencing analysis. Methods: MYBPC3 complete deletion was investigated by Multiplex ligation‐dependent probe amplification (MLPA) and microarray analyses. The mechanism of deletion was investigated by interrogating the SINEBase database. Results: Patient‐1 was diagnosed with nonobstructive HCM in his mid‐40s while undergoing assessment for palpitations, and patient‐2 with obstructive HCM in his late‐20s while undergoing systolic heart murmur assessment for an unrelated illness. MLPA testing revealed a heterozygous deletion of all MYBPC3 exons in both patients. Subsequent microarray testing confirmed these deletions which extended beyond the 5′ and 3′ ends of MYBPC3. Genomic assessment suggested that these deletions resulted from Alu/Alu‐homologous recombination. Conclusion: Our results demonstrate that haploinsufficiency resulting from MYBPC3 complete deletion, potentially mediated by Alu recombination, is an important disease mechanism in cardiomyopathy and emphasizes the importance of copy number variation analysis in patients clinically suspected of HCM. [ABSTRACT FROM AUTHOR]
- Published
- 2020
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42. Bone marrow transplantation treatment for a 4 year old asymptomatic patient with metachromatic leukodystrophy (MLD).
- Author
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Inbar-Feigenberg, Michal, Hewson, Stacy, and Raiman, Julian
- Subjects
- *
BONE marrow transplantation , *METACHROMATIC leukodystrophy , *SYMPTOMS , *MEDICAL research , *DATA analysis , *PATIENTS - Published
- 2016
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43. Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.
- Author
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D'Amours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D, Bernier F, Chad L, Costain G, Dhalla I, Faghfoury H, Friedman JM, Hewson S, Jamieson T, Silver J, Shuman C, Osmond M, Carroll JC, Jobling R, Laberge AM, Aronson M, Liston E, Lerner-Ellis J, Marshall C, Brudno M, Pham Q, Rudzicz F, Cohn R, Mamdani M, Smith M, Shastri-Estrada S, Seto E, Thorpe K, Ungar W, Hayeems RZ, and Bombard Y
- Subjects
- Humans, Adult, Child, Genetic Testing methods, Randomized Controlled Trials as Topic, Quality of Life, Ontario, Canada, Patient Navigation, Genetic Counseling methods
- Abstract
Introduction: Genetic testing is used across medical disciplines leading to unprecedented demand for genetic services. This has resulted in excessive waitlists and unsustainable pressure on the standard model of genetic healthcare. Alternative models are needed; e-health tools represent scalable and evidence-based solution. We aim to evaluate the effectiveness of the Genetics Navigator, an interactive patient-centred digital platform that supports the collection of medical and family history, provision of pregenetic and postgenetic counselling and return of genetic testing results across paediatric and adult settings., Methods and Analysis: We will evaluate the effectiveness of the Genetics Navigator combined with usual care by a genetics clinician (physician or counsellor) to usual care alone in a randomised controlled trial. One hundred and thirty participants (adults patients or parents of paediatric patients) eligible for genetic testing through standard of care will be recruited across Ontario genetics clinics. Participants randomised into the intervention arm will use the Genetics Navigator for pretest and post-test genetic counselling and results disclosure in conjunction with their clinician. Participants randomised into the control arm will receive usual care, that is, clinician-delivered pretest and post-test genetic counselling, and results disclosure. The primary outcome is participant distress 2 weeks after test results disclosure. Secondary outcomes include knowledge, decisional conflict, anxiety, empowerment, quality of life, satisfaction, acceptability, digital health literacy and health resource use. Quantitative data will be analysed using statistical hypothesis tests and regression models. A subset of participants will be interviewed to explore user experience; data will be analysed using interpretive description. A cost-effectiveness analysis will examine the incremental cost of the Navigator compared with usual care per unit reduction in distress or unit improvement in quality of life from public payer and societal perspectives., Ethics and Dissemination: This study was approved by Clinical Trials Ontario. Results will be shared through stakeholder workshops, national and international conferences and peer-reviewed journals., Trial Registration Number: NCT06455384., Competing Interests: Competing interests: YB and MC are cofounders of Genetics Adviser., (© Author(s) (or their employer(s)) 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)
- Published
- 2024
- Full Text
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44. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
- Author
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Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W, Khokha MK, Bönnemann CG, Lucas CL, and Lakhani SA
- Subjects
- Humans, Leukocytes, Mononuclear, Syndrome, Phenotype, Arrhythmias, Cardiac genetics, Cell Adhesion Molecules genetics, Extracellular Matrix Proteins genetics, Reinfection, Neurodevelopmental Disorders genetics
- Abstract
Purpose: We sought to delineate a multisystem disorder caused by recessive cysteine-rich with epidermal growth factor-like domains 1 (CRELD1) gene variants., Methods: The impact of CRELD1 variants was characterized through an international collaboration utilizing next-generation DNA sequencing, gene knockdown, and protein overexpression in Xenopus tropicalis, and in vitro analysis of patient immune cells., Results: Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. Most harbored a frameshift in trans with a missense allele, with 1 recurrent variant, p.(Cys192Tyr), identified in 10 families. X tropicalis tadpoles with creld1 knockdown displayed developmental defects along with increased susceptibility to induced seizures compared with controls. Additionally, human CRELD1 harboring missense variants from affected individuals had reduced protein function, indicated by a diminished ability to induce craniofacial defects when overexpressed in X tropicalis. Finally, baseline analyses of peripheral blood mononuclear cells showed similar proportions of immune cell subtypes in patients compared with healthy donors., Conclusion: This patient cohort, combined with experimental data, provide evidence of a multisystem clinical syndrome mediated by recessive variants in CRELD1., Competing Interests: Conflict of Interest Two authors report part ownership of startup companies unrelated to this work: Qiyas Higher Health (Saquib A. Lakhani) and Victory Genomics (Saquib A. Lakhani and Mustafa K. Khokha). Kirsty McWalter is an employee of GeneDx. Kimberly Nugent is currently an employee of Cooper Surgical. Bryan Mak is currently an employee of Genome Medical. All other authors declare no conflicts of interest., (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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45. Prevalence of Genetic Disorders and GLUT1 Deficiency in a Ketogenic Diet Clinic.
- Author
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Hewson S, Brunga L, Ojeda MF, Imhof E, Patel J, Zak M, Donner EJ, Kobayashi J, Salomons GS, and Mercimek-Andrews S
- Subjects
- Adolescent, Carbohydrate Metabolism, Inborn Errors diet therapy, Carbohydrate Metabolism, Inborn Errors epidemiology, Child, Child, Preschool, Cohort Studies, Epilepsy diet therapy, Epilepsy epidemiology, Epilepsy genetics, Female, Humans, Male, Monosaccharide Transport Proteins genetics, Prevalence, Carbohydrate Metabolism, Inborn Errors complications, Carbohydrate Metabolism, Inborn Errors genetics, Diet, Ketogenic methods, Epilepsy complications, Monosaccharide Transport Proteins deficiency
- Abstract
Between July of 2012 and December of 2014, 39 patients were enrolled prospectively to investigate the prevalence of glucose transporter 1 (GLUT1) deficiency in a ketogenic diet clinic. None of them had GLUT1 deficiency. All patients seen in the same clinic within the same period were reviewed retrospectively. A total of 18 of these 85 patients had a genetic diagnosis, including GLUT1 deficiency, pathogenic copy number variants, congenital disorder of glycosylation, neuronal ceroid lipofuscinosis type II, mitochondrial disorders, tuberous sclerosis, lissencephaly, and SCN1A-, SCN8A-, and STXBP1-associated epileptic encephalopathies. The prevalence of genetic diagnoses was 21% and prevalence of GLUT1 deficiency was 2.4% in our retrospective cohort study.
- Published
- 2018
- Full Text
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