Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
Millan, Francisca, Cho, Megan T., Retterer, Kyle, Monaghan, Kristin G., Bai, Renkui, Vitazka, Patrik, Everman, David B., Smith, Brooke, Angle, Brad, Roberts, Victoria, Immken, LaDonna, Nagakura, Honey, DiFazio, Marc, Sherr, Elliott, Haverfield, Eden, Friedman, Bethany, Telegrafi, Aida, Juusola, Jane, Chung, Wendy K., Bale, Sherri
Published in American journal of medical genetics. Part A (01.07.2016)
Published in American journal of medical genetics. Part A (01.07.2016)
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Mouse model implicates GNB3 duplication in a childhood obesity syndrome
Goldlust, Ian S., Hermetz, Karen E., Catalano, Lisa M., Barfield, Richard T., Cozad, Rebecca, Wynn, Grace, Ozdemir, Alev Cagla, Conneely, Karen N., Mulle, Jennifer G., Dharamrup, Shikha, Hegde, Madhuri R., Kim, Katherine H., Angle, Brad, Colley, Alison, Webb, Amy E., Thorland, Erik C., Ellison, Jay W., Rosenfeld, Jill A., Ballif, Blake C., Shaffer, Lisa G., Demmer, Laurie A., Rudd, M. Katharine
Published in Proceedings of the National Academy of Sciences - PNAS (10.09.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (10.09.2013)
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Whole exome sequence analysis of Peters anomaly
Weh, Eric, Reis, Linda M., Happ, Hannah C., Levin, Alex V., Wheeler, Patricia G., David, Karen L., Carney, Erin, Angle, Brad, Hauser, Natalie, Semina, Elena V.
Published in Human genetics (01.12.2014)
Published in Human genetics (01.12.2014)
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WRN Mutation Update: Mutation Spectrum, Patient Registries, and Translational Prospects
Yokote, Koutaro, Chanprasert, Sirisak, Lee, Lin, Eirich, Katharina, Takemoto, Minoru, Watanabe, Aki, Koizumi, Naoko, Lessel, Davor, Mori, Takayasu, Hisama, Fuki M., Ladd, Paula D., Angle, Brad, Baris, Hagit, Cefle, Kivanc, Palanduz, Sukru, Ozturk, Sukru, Chateau, Antoinette, Deguchi, Kentaro, Easwar, T.K.M, Federico, Antonio, Fox, Amy, Grebe, Theresa A., Hay, Beverly, Nampoothiri, Sheela, Seiter, Karen, Streeten, Elizabeth, Piña‐Aguilar, Raul E., Poke, Gemma, Poot, Martin, Posmyk, Renata, Martin, George M., Kubisch, Christian, Schindler, Detlev, Oshima, Junko
Published in Human mutation (01.01.2017)
Published in Human mutation (01.01.2017)
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Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Arjunan, Aishwarya, Bellerose, Holly, Torres, Raul, Ben‐Shachar, Rotem, Hoffman, Jodi D., Angle, Brad, Slotnick, Robert Nathan, Simpson, Brittany N., Lewis, Andrea M., Magoulas, Pilar L., Bontempo, Kelly, Schulze, Jeanine, Tarpinian, Jennifer, Bucher, Jessica A., Dineen, Richard, Goetsch, Allison, Lazarin, Gabriel A., Johansen Taber, Katherine
Published in Prenatal diagnosis (01.09.2020)
Published in Prenatal diagnosis (01.09.2020)
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.10.2022)
Published in Genetics in medicine (01.10.2022)
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Journal Article
Whole exome sequence analysis of Peters anomaly
Weh, Eric, Reis, Linda M., Happ, Hannah C., Levin, Alex V., Wheeler, Patricia G., David, Karen L., Carney, Erin, Angle, Brad, Hauser, Natalie, Semina, Elena V.
Published in Human genetics (01.12.2014)
Published in Human genetics (01.12.2014)
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Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes
PYOTT, Shawna M, SCHWARZE, Ulrike, SUSSMAN, Michael D, WEIS, Maryann, EYRE, David R, RUSSELL, David W, MCCARTHY, Kevin J, STEINER, Robert D, BYERS, Peter H, CHRISTIANSEN, Helena E, PEPIN, Melanie G, LEISTRITZ, Dru F, DINEEN, Richard, HARRIS, Catharine, BURTON, Barbara K, ANGLE, Brad, KIM, Katherine
Published in Human molecular genetics (15.04.2011)
Published in Human molecular genetics (15.04.2011)
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Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
Zarate, Yuri A., Smith‐Hicks, Constance L., Greene, Carol, Abbott, Mary‐Alice, Siu, Victoria M., Calhoun, Amy R. U. L., Pandya, Arti, Li, Chumei, Sellars, Elizabeth A., Kaylor, Julie, Bosanko, Katherine, Kalsner, Louisa, Basinger, Alice, Slavotinek, Anne M., Perry, Hazel, Saenz, Margarita, Szybowska, Marta, Wilson, Louise C., Kumar, Ajith, Brain, Caroline, Balasubramanian, Meena, Dubbs, Holly, Ortiz‐Gonzalez, Xilma R., Zackai, Elaine, Stein, Quinn, Powell, Cynthia M., Schrier Vergano, Samantha, Britt, Allison, Sun, Angela, Smith, Wendy, Bebin, E. Martina, Picker, Jonathan, Kirby, Amelia, Pinz, Hailey, Bombei, Hannah, Mahida, Sonal, Cohen, Julie S., Fatemi, Ali, Vernon, Hilary J., McClellan, Rebecca, Fleming, Leah R., Knyszek, Brittney, Steinraths, Michelle, Velasco Gonzalez, Cruz, Beck, Anita E., Golden‐Grant, Katie L., Egense, Alena, Parikh, Aditi, Raimondi, Chantalle, Angle, Brad, Allen, William, Schott, Suzanna, Algrabli, Adi, Robin, Nathaniel H., Ray, Joseph W., Everman, David B., Gambello, Michael J., Chung, Wendy K.
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Stockler-Ipsiroglu, Sylvia, van Karnebeek, Clara, Longo, Nicola, Korenke, G. Christoph, Mercimek-Mahmutoglu, Saadet, Marquart, Iris, Barshop, Bruce, Grolik, Christiane, Schlune, Andrea, Angle, Brad, Araújo, Helena Caldeira, Coskun, Turgay, Diogo, Luisa, Geraghty, Michael, Haliloglu, Goknur, Konstantopoulou, Vassiliki, Leuzzi, Vincenzo, Levtova, Alina, MacKenzie, Jennifer, Maranda, Bruno, Mhanni, Aizeddin A., Mitchell, Grant, Morris, Andrew, Newlove, Theresa, Renaud, Deborah, Scaglia, Fernando, Valayannopoulos, Vassili, van Spronsen, Francjan J., Verbruggen, Krijn T., Yuskiv, Nataliya, Nyhan, William, Schulze, Andreas
Published in Molecular genetics and metabolism (01.01.2014)
Published in Molecular genetics and metabolism (01.01.2014)
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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
de Boer, Elke, Ockeloen, Charlotte W., Kampen, Rosalie A., Hampstead, Juliet E., Dingemans, Alexander J.M., Rots, Dmitrijs, Lütje, Lukas, Ashraf, Tazeen, Baker, Rachel, Barat-Houari, Mouna, Angle, Brad, Chatron, Nicolas, Denommé-Pichon, Anne-Sophie, Devinsky, Orrin, Dubourg, Christèle, Elmslie, Frances, Elloumi, Houda Zghal, Faivre, Laurence, Fitzgerald-Butt, Sarah, Geneviève, David, Goos, Jacqueline A.C., Helm, Benjamin M., Kini, Usha, Lasa-Aranzasti, Amaia, Lesca, Gaetan, Lynch, Sally A., Mathijssen, Irene M.J., McGowan, Ruth, Monaghan, Kristin G., Odent, Sylvie, Pfundt, Rolph, Putoux, Audrey, van Reeuwijk, Jeroen, Santen, Gijs W.E., Sasaki, Erina, Sorlin, Arthur, van der Spek, Peter J., Stegmann, Alexander P.A., Swagemakers, Sigrid M.A., Valenzuela, Irene, Viora-Dupont, Eléonore, Vitobello, Antonio, Ware, Stephanie M., Wéber, Mathys, Gilissen, Christian, Low, Karen J., Fisher, Simon E., Vissers, Lisenka E.L.M., Wong, Maggie M.K., Kleefstra, Tjitske
Published in Genetics in medicine (01.11.2023)
Published in Genetics in medicine (01.11.2023)
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Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
Granadillo, Jorge Luis, P.A. Stegmann, Alexander, Guo, Hui, Xia, Kun, Angle, Brad, Bontempo, Kelly, Ranells, Judith D, Newkirk, Patricia, Costin, Carrie, Viront, Joleen, Stumpel, Constanze T, Sinnema, Margje, Panis, Bianca, Pfundt, Rolph, Krapels, Ingrid P C, Klaassens, Merel, Nicolai, Joost, Li, Jinliang, Jiang, Yuwu, Marco, Elysa, Canton, Ana, Latronico, Ana Claudia, Montenegro, Luciana, Leheup, Bruno, Bonnet, Celine, M. Amudhavalli, Shivarajan, Lawson, Caitlin E, McWalter, Kirsty, Telegrafi, Aida, Pearson, Richard, Kvarnung, Malin, Wang, Xia, Bi, Weimin, Rosenfeld, Jill Anne, Shinawi, Marwan
Published in Journal of medical genetics (01.10.2020)
Published in Journal of medical genetics (01.10.2020)
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Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience
Pena, Loren, Angle, Brad, Burton, Barbara, Charrow, Joel
Published in Genetics in medicine (01.03.2012)
Published in Genetics in medicine (01.03.2012)
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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects
Beck, David B., Cho, Megan T., Millan, Francisca, Yates, Carin, Hannibal, Mark, O’Connor, Bridget, Shinawi, Marwan, Connolly, Anne M., Waggoner, Darrel, Halbach, Sara, Angle, Brad, Sanders, Victoria, Shen, Yufeng, Retterer, Kyle, Begtrup, Amber, Bai, Renkui, Chung, Wendy K.
Published in Neurogenetics (01.07.2016)
Published in Neurogenetics (01.07.2016)
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