Search Results - "Balci, Tugce B"

Zebrafish xenografts as a tool for in vivo studies on human cancer by Konantz, Martina, Balci, Tugce B., Hartwig, Udo F., Dellaire, Graham, André, Maya C., Berman, Jason N., Lengerke, Claudia

“…The zebrafish has become a powerful vertebrate model for genetic studies of embryonic development and organogenesis and increasingly for studies in cancer…”
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Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes by Chang, Willie H., Mashouri, Pouria, Lozano, Alexander X., Johnstone, Brittney, Husić, Mia, Olry, Annie, Maiella, Sylvie, Balci, Tugce B., Sawyer, Sarah L., Robinson, Peter N., Rath, Ana, Brudno, Michael

“…Purpose Computational documentation of genetic disorders is highly reliant on structured data for differential diagnosis, pathogenic variant identification,…”
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Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders by Sadikovic, Bekim, Levy, Michael A., Kerkhof, Jennifer, Aref-Eshghi, Erfan, Schenkel, Laila, Stuart, Alan, McConkey, Haley, Henneman, Peter, Venema, Andrea, Schwartz, Charles E., Stevenson, Roger E., Skinner, Steven A., DuPont, Barbara R., Fletcher, Robin S., Balci, Tugce B., Siu, Victoria Mok, Granadillo, Jorge L., Masters, Jennefer, Kadour, Mike, Friez, Michael J., van Haelst, Mieke M., Mannens, Marcel M. A. M., Louie, Raymond J., Lee, Jennifer A., Tedder, Matthew L., Alders, Marielle

“…A Correction to this paper has been published: https://doi.org/10.1038/s41436-021-01130-z…”
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The zebrafish reveals dependence of the mast cell lineage on Notch signaling in vivo by Da'as, Sahar I., Coombs, Andrew J., Balci, Tugce B., Grondin, Chloe A., Ferrando, Adolfo A., Berman, Jason N.

“…We used the opportunities afforded by the zebrafish to determine upstream pathways regulating mast cell development in vivo and identify their cellular origin…”
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

“…Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis…”
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A unique role of GATA1s in Down syndrome acute megakaryocytic leukemia biology and therapy by Xavier, Ana C, Edwards, Holly, Dombkowski, Alan A, Balci, Tugce B, Berman, Jason N, Dellaire, Graham, Xie, Chengzhi, Buck, Steven A, Matherly, Larry H, Ge, Yubin, Taub, Jeffrey W

“…Acute megakaryocytic leukemia (AMkL) in Down syndrome (DS) children is uniformly associated with somatic GATA1 mutations, which result in the synthesis of a…”
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Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders by Levy, Michael A., Relator, Raissa, McConkey, Haley, Pranckeviciene, Erinija, Kerkhof, Jennifer, Barat‐Houari, Mouna, Bargiacchi, Sara, Biamino, Elisa, Palomares Bralo, María, Cappuccio, Gerarda, Ciolfi, Andrea, Clarke, Angus, DuPont, Barbara R., Elting, Mariet W., Faivre, Laurence, Fee, Timothy, Ferilli, Marco, Fletcher, Robin S., Cherick, Florian, Foroutan, Aidin, Friez, Michael J., Gervasini, Cristina, Haghshenas, Sadegheh, Hilton, Benjamin A., Jenkins, Zandra, Kaur, Simranpreet, Lewis, Suzanne, Louie, Raymond J., Maitz, Silvia, Milani, Donatella, Morgan, Angela T., Oegema, Renske, Østergaard, Elsebet, Pallares, Nathalie R., Piccione, Maria, Plomp, Astrid S., Poulton, Cathryn, Reilly, Jack, Rius, Rocio, Robertson, Stephen, Rooney, Kathleen, Rousseau, Justine, Santen, Gijs W. E., Santos‐Simarro, Fernando, Schijns, Josephine, Squeo, Gabriella M., John, Miya St, Thauvin‐Robinet, Christel, Traficante, Giovanna, Sluijs, Pleuntje J., Vergano, Samantha A., Vos, Niels, Walden, Kellie K., Azmanov, Dimitar, Balci, Tugce B., Banka, Siddharth, Gecz, Jozef, Henneman, Peter, Lee, Jennifer A., Mannens, Marcel M. A. M., Roscioli, Tony, Siu, Victoria, Amor, David J., Baynam, Gareth, Bend, Eric G., Boycott, Kym, Brunetti‐Pierri, Nicola, Campeau, Philippe M., Campion, Dominique, Christodoulou, John, Dyment, David, Esber, Natacha, Fahrner, Jill A., Fleming, Mark D., Genevieve, David, Heron, Delphine, Husson, Thomas, Kernohan, Kristin D., McNeill, Alisdair, Menke, Leonie A., Merla, Giuseppe, Prontera, Paolo, Rockman‐Greenberg, Cheryl, Schwartz, Charles, Skinner, Steven A., Stevenson, Roger E., Vincent, Marie, Vitobello, Antonio, Tartaglia, Marco, Alders, Marielle, Tedder, Matthew L., Sadikovic, Bekim

“…An expanding range of genetic syndromes are characterized by genome‐wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures…”
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From Alpha-Thalassemia Trait to NPRL3 -Related Epilepsy: A Genomic Diagnostic Odyssey by Nabavi Nouri, Maryam, Alandijani, Lama, van Engelen, Kalene, Tole, Soumitra, Lalonde, Emilie, Balci, Tugce B

“…: The gene is a critical component of the GATOR1 complex, which negatively regulates the mTORC1 pathway, essential for neurogenesis and brain development…”
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Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants by Chang, Caitlin A., Perrier, Renee, Kurek, Kyle C., Estrada‐Veras, Juvianee, Lehman, Anna, Yip, Stephen, Hendson, Glenda, Diamond, Carol, Pinchot, Jason W., Tran, Jennifer M., Arkin, Lisa M., Drolet, Beth A., Napier, Melanie P., O'Neill, Sarah A., Balci, Tugce B., Keppler‐Noreuil, Kim M.

“…Mosaic KRAS variants and other RASopathy genes cause oculoectodermal, encephalo‐cranio‐cutaneous lipomatosis, and Schimmelpenning‐Feuerstein‐Mims syndromes,…”
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Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations by Haghshenas, Sadegheh, Karimi, Karim, Stevenson, Roger E, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, Rzasa, Jessica, McConkey, Haley, Lauzon-Young, Carolyn, Balci, Tugce B, White-Brown, Alexandre M, Carter, Melissa T, Richer, Julie, Armour, Christine M, Sawyer, Sarah L, Bhola, Priya T, Tedder, Matthew L, Skinner, Cindy D, van Rooij, Iris A L M, van de Putte, Romy, de Blaauw, Ivo, Koeck, Rebekka M, Hoischen, Alexander, Brunner, Han, Esteki, Masoud Zamani, Pelet, Anna, Lyonnet, Stanislas, Amiel, Jeanne, Boycott, Kym M, Sadikovic, Bekim

“…The term "recurrent constellations of embryonic malformations" (RCEM) is used to describe a number of multiple malformation associations that affect three or…”
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Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals by Sczakiel, Henrike L, Zhao, Max, Wollert-Wulf, Brigitte, Danyel, Magdalena, Ehmke, Nadja, Stoltenburg, Corinna, Damseh, Nadirah, Al-Ashhab, Motee, Balci, Tugce B, Osmond, Matthew, Andrade, Andrea, Schallner, Jens, Porrmann, Joseph, McDonald, Kimberly, Liao, Mingjuan, Oppermann, Henry, Platzer, Konrad, Dierksen, Nadine, Mojarrad, Majid, Eslahi, Atieh, Bakaeean, Behnaz, Calame, Daniel G, Lupski, James R, Firoozfar, Zahra, Seyedhassani, Seyed Mohammad, Mohammadi, Seyed Ahmad, Anwaar, Najwa, Rahman, Fatima, Seelow, Dominik, Janz, Martin, Horn, Denise, Maroofian, Reza, Boschann, Felix

“…FINCA syndrome [MIM: 618278] is an autosomal recessive multisystem disorder characterized by fibrosis, neurodegeneration and cerebral angiomatosis. To date, 13…”
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Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome by Balci, Tugce B., Davila, Jorge, Lewis, Denice, Boafo, Addo, Sell, Erick, Richer, Julie, Nikkel, Sarah M., Armour, Christine M., Tomiak, Eva, Lines, Matthew A., Sawyer, Sarah L.

“…White matter lesions have been described in patients with PTEN hamartoma tumor syndrome (PHTS). How these lesions correlate with the neurocognitive features…”
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Genotype–phenotype correlations in individuals with pathogenic RERE variants by Jordan, Valerie K., Fregeau, Brieana, Ge, Xiaoyan, Giordano, Jessica, Wapner, Ronald J., Balci, Tugce B., Carter, Melissa T., Bernat, John A., Moccia, Amanda N., Srivastava, Anshika, Martin, Donna M., Bielas, Stephanie L., Pappas, John, Svoboda, Melissa D., Rio, Marlène, Boddaert, Nathalie, Cantagrel, Vincent, Lewis, Andrea M., Scaglia, Fernando, Kohler, Jennefer N., Bernstein, Jonathan A., Dries, Annika M., Rosenfeld, Jill A., DeFilippo, Colette, Thorson, Willa, Yang, Yaping, Sherr, Elliott H., Bi, Weimin, Scott, Daryl A.

“…Heterozygous variants in the arginine‐glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without…”
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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders by Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., France, Groupe DI, Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christéle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Tatton‐Brown‐Rahman syndrome: Six individuals with novel features by Balci, Tugce B., Strong, Alana, Kalish, Jennifer M., Zackai, Elaine, Maris, John M., Reilly, Anne, Surrey, Lea F., Wertheim, Gerald B., Marcadier, Julien L., Graham, Gail E., Carter, Melissa T.

“…Tatton‐Brown Rahman syndrome (TBRS) is an overgrowth‐intellectual disability syndrome caused by heterozygous variants in DNMT3A. Seventy‐eight individuals have…”
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Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study by Hartley, Taila, Marshall, Deborah, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Dyment, David, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, Boycott, Kym M., Hayeems, Robin, Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara

“…To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases. We prospectively…”
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Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data by Hartley, Taila, Soubry, Élisabeth, Acker, Meryl, Osmond, Matthew, Couse, Madeline, Gillespie, Meredith K., Ito, Yoko, Marshall, Aren E., Lemire, Gabrielle, Huang, Lijia, Chisholm, Caitlin, Eaton, Alison J., Price, E. Magda, Dowling, James J., Ramani, Arun K., Mendoza‐Londono, Roberto, Costain, Gregory, Axford, Michelle M., Szuto, Anna, McNiven, Vanda, Damseh, Nadirah, Jobling, Rebekah, Kock, Leanne, Mojarad, Bahareh A., Young, Ted, Shao, Zhuo, Hayeems, Robin Z., Graham, Ian D., Tarnopolsky, Mark, Brady, Lauren, Armour, Christine M., Geraghty, Michael, Richer, Julie, Sawyer, Sarah, Lines, Matthew, Mercimek‐Andrews, Saadet, Carter, Melissa T., Graham, Gail, Kannu, Peter, Lazier, Joanna, Li, Chumei, Aul, Ritu B., Balci, Tugce B., Dlamini, Nomazulu, Badalato, Lauren, Guerin, Andrea, Walia, Jagdeep, Chitayat, David, Cohn, Ronald, Faghfoury, Hanna, Forster‐Gibson, Cynthia, Gonorazky, Hernan, Grunebaum, Eyal, Inbar‐Feigenberg, Michal, Karp, Natalya, Morel, Chantal, Rusnak, Alison, Sondheimer, Neal, Warman‐Chardon, Jodi, Bhola, Priya T., Bourque, Danielle K., Chacon, Inara J., Chad, Lauren, Chakraborty, Pranesh, Chong, Karen, Doja, Asif, Goh, Elaine Suk‐Ying, Saleh, Maha, Potter, Beth K., Marshall, Christian R., Dyment, David A., Kernohan, Kristin, Boycott, Kym M.

“…We examined the utility of clinical and research processes in the reanalysis of publicly‐funded clinical exome sequencing data in Ontario, Canada. In…”
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Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities by Chowdhury, Fuad, Wang, Lei, Al-Raqad, Mohammed, Amor, David J., Baxová, Alice, Bendová, Šárka, Biamino, Elisa, Brusco, Alfredo, Caluseriu, Oana, Cox, Nancy J., Froukh, Tawfiq, Gunay-Aygun, Meral, Hančárová, Miroslava, Haynes, Devon, Heide, Solveig, Hoganson, George, Kaname, Tadashi, Keren, Boris, Kosaki, Kenjiro, Kubota, Kazuo, Lemons, Jennifer M., Magriña, Maria A., Mark, Paul R., McDonald, Marie T., Montgomery, Sarah, Morley, Gina M., Ohnishi, Hidenori, Okamoto, Nobuhiko, Rodriguez-Buritica, David, Rump, Patrick, Sedláček, Zdeněk, Schatz, Krista, Streff, Haley, Uehara, Tomoko, Walia, Jagdeep S., Wheeler, Patricia G., Wiesener, Antje, Zweier, Christiane, Kawakami, Koichi, Wentzensen, Ingrid M., Lalani, Seema R., Siu, Victoria M., Bi, Weimin, Balci, Tugce B.

“…Proline Rich 12 (PRR12) is a gene of unknown function with suspected DNA-binding activity, expressed in developing mice and human brains. Predicted…”
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Jansen‐de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families by Wojcik, Monica H., Srivastava, Siddharth, Agrawal, Pankaj B., Balci, Tugce B., Callewaert, Bert, Calvo, Pier Luigi, Carli, Diana, Caudle, Michelle, Colaiacovo, Samantha, Cross, Laura, Demetriou, Kalliope, Drazba, Katy, Dutra‐Clarke, Marina, Edwards, Matthew, Genetti, Casie A., Grange, Dorothy K., Hickey, Scott E., Isidor, Bertrand, Küry, Sébastien, Lachman, Herbert M., Lavillaureix, Alinoe, Lyons, Michael J., Marcelis, Carlo, Marco, Elysa J., Martinez‐Agosto, Julian A., Nowak, Catherine, Pizzol, Antonio, Planes, Marc, Prijoles, Eloise J., Riberi, Evelise, Rush, Eric T., Russell, Bianca E., Sachdev, Rani, Schmalz, Betsy, Shears, Deborah, Stevenson, David A., Wilson, Kate, Jansen, Sandra, Vries, Bert B. A., Curry, Cynthia J.

“…Jansen‐de Vries syndrome (JdVS) is a neurodevelopmental condition attributed to pathogenic variants in Exons 5 and 6 of PPM1D. As the full phenotypic spectrum…”
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Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes by Chang, Willie H., Mashouri, Pouria, Lozano, Alexander X., Johnstone, Brittney, Husić, Mia, Olry, Annie, Maiella, Sylvie, Balci, Tugce B., Sawyer, Sarah L., Robinson, Peter N., Rath, Ana, Brudno, Michael

“…An amendment to this paper has been published and can be accessed via a link at the top of the paper…”
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