Search Results - "Cho, Megan"

Clinical application of whole-exome sequencing across clinical indications by Retterer, Kyle, Juusola, Jane, Cho, Megan T., Vitazka, Patrik, Millan, Francisca, Gibellini, Federica, Vertino-Bell, Annette, Smaoui, Nizar, Neidich, Julie, Monaghan, Kristin G., McKnight, Dianalee, Bai, Renkui, Suchy, Sharon, Friedman, Bethany, Tahiliani, Jackie, Pineda-Alvarez, Daniel, Richard, Gabriele, Brandt, Tracy, Haverfield, Eden, Chung, Wendy K., Bale, Sherri

“…We report the diagnostic yield of whole-exome sequencing (WES) in 3,040 consecutive cases at a single clinical laboratory. WES was performed for many different…”
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The usefulness of whole-exome sequencing in routine clinical practice by Iglesias, Alejandro, Anyane-Yeboa, Kwame, Wynn, Julia, Wilson, Ashley, Truitt Cho, Megan, Guzman, Edwin, Sisson, Rebecca, Egan, Claire, Chung, Wendy K.

“…Purpose: Reports of the use of whole-exome sequencing in clinical practice are limited. We report our experience with whole-exome sequencing in 115 patients in…”
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Evolving Roles of Genetic Counselors in the Clinical Laboratory by Cho, Megan T, Guy, Carrie

“…Genetic counselors (GCs) possess several core competencies that provide direct benefit in the clinical laboratory setting. Communication with clients about…”
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Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss by Tanaka, Akemi J., Cho, Megan T., Millan, Francisca, Juusola, Jane, Retterer, Kyle, Joshi, Charuta, Niyazov, Dmitriy, Garnica, Adolfo, Gratz, Edward, Deardorff, Matthew, Wilkins, Alisha, Ortiz-Gonzalez, Xilma, Mathews, Katherine, Panzer, Karin, Brilstra, Eva, van Gassen, Koen L.I., Volker-Touw, Catharina M.L., van Binsbergen, Ellen, Sobreira, Nara, Hamosh, Ada, McKnight, Dianalee, Monaghan, Kristin G., Chung, Wendy K.

“…Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia,…”
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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females by Bain, Jennifer M., Cho, Megan T., Telegrafi, Aida, Wilson, Ashley, Brooks, Susan, Botti, Christina, Gowans, Gordon, Autullo, Leigh Anne, Krishnamurthy, Vidya, Willing, Marcia C., Toler, Tomi L., Ben-Zev, Bruria, Elpeleg, Orly, Shen, Yufeng, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

“…Via whole-exome sequencing, we identified six females from independent families with a common neurodevelopmental phenotype including developmental delay,…”
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Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome by Bauer, Christiane K., Calligari, Paolo, Radio, Francesca Clementina, Caputo, Viviana, Dentici, Maria Lisa, Falah, Nadia, High, Frances, Pantaleoni, Francesca, Barresi, Sabina, Ciolfi, Andrea, Pizzi, Simone, Bruselles, Alessandro, Person, Richard, Richards, Sarah, Cho, Megan T., Claps Sepulveda, Daniela J., Pro, Stefano, Battini, Roberta, Zampino, Giuseppe, Digilio, Maria Cristina, Bocchinfuso, Gianfranco, Dallapiccola, Bruno, Stella, Lorenzo, Tartaglia, Marco

“…Aberrant activation or inhibition of potassium (K+) currents across the plasma membrane of cells has been causally linked to altered neurotransmission, cardiac…”
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Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity by Parente, Daniel J., Garriga, Caryn, Baskin, Berivan, Douglas, Ganka, Cho, Megan T., Araujo, Gabriel C., Shinawi, Marwan

“…Neuroligins are post‐synaptic, cellular adhesion molecules implicated in synaptic formation and function. NLGN2 is strongly linked to inhibitory, GABAergic…”
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De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy by Sega, Annalisa G, Mis, Emily K, Lindstrom, Kristin, Mercimek-Andrews, Saadet, Ji, Weizhen, Cho, Megan T, Juusola, Jane, Konstantino, Monica, Jeffries, Lauren, Khokha, Mustafa K, Lakhani, Saquib Ali

“…Early infantile epileptic encephalopathies are severe disorders consisting of early-onset refractory seizures accompanied often by significant developmental…”
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures by Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

“…Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type…”
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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain by Liu, Sanxiong, Aldinger, Kimberly A., Cheng, Chi Vicky, Kiyama, Takae, Dave, Mitali, McNamara, Hanna K., Zhao, Wukui, Stafford, James M., Descostes, Nicolas, Lee, Pedro, Caraffi, Stefano G., Ivanovski, Ivan, Errichiello, Edoardo, Zweier, Christiane, Zuffardi, Orsetta, Schneider, Michael, Papavasiliou, Antigone S., Perry, M. Scott, Humberson, Jennifer, Cho, Megan T., Weber, Astrid, Swale, Andrew, Badea, Tudor C., Mao, Chai-An, Garavelli, Livia, Dobyns, William B., Reinberg, Danny

“…The heterogeneous family of complexes comprising Polycomb repressive complex 1 (PRC1) is instrumental for establishing facultative heterochromatin that is…”
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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects by Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.

“…Whole-exome sequencing (WES) is increasingly being utilized to diagnose individuals with undiagnosed disorders. Developmental delay and short stature are…”
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Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome by Vasileiou, Georgia, Vergarajauregui, Silvia, Endele, Sabine, Popp, Bernt, Büttner, Christian, Ekici, Arif B., Gerard, Marion, Bramswig, Nuria C., Albrecht, Beate, Clayton-Smith, Jill, Morton, Jenny, Tomkins, Susan, Low, Karen, Weber, Astrid, Wenzel, Maren, Altmüller, Janine, Li, Yun, Wollnik, Bernd, Hoganson, George, Plona, Maria-Renée, Cho, Megan T., Thiel, Christian T., Lüdecke, Hermann-Josef, Strom, Tim M., Calpena, Eduardo, Wilkie, Andrew O.M., Wieczorek, Dagmar, Engel, Felix B., Reis, André

“…Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including…”
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Beyond multiple choice: Clinical simulation as a rigorous and inclusive method for assessing genetic counseling competencies by Cho, Megan T., Davis, Claire, Lowe, Chenery, Flynn, Maureen, Jamal, Leila, Bajaj, Komal, Atzinger, Carrie, Erby, Lori H.

“…Educational use of clinical simulation is a way for students to immerse themselves within a realistic yet safe and structured environment as they practice…”
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Measuring quality and value in genetic counseling: The current landscape and future directions by Higgs, Emily, Wain, Karen E., Wynn, Julia, Cho, Megan T., Higgins, Sonja, Blaisdell, David, Dugan, Donna, Valek, Sara, Cohen, Stephanie

“…Genetic counselors strive to provide high‐quality genetic services. To do so, it is essential to define quality in genetic counseling and identify…”
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants by Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.

“…Purpose TANGO2 -related disorders were first described in 2016 and prior to this publication, only 15 individuals with TANGO2 -related disorder were described…”
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Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination by Damseh, Nadirah, Simonin, Alexandre, Jalas, Chaim, Picoraro, Joseph A, Shaag, Avraham, Cho, Megan T, Yaacov, Barak, Neidich, Julie, Al-Ashhab, Motee, Juusola, Jane, Bale, Sherri, Telegrafi, Aida, Retterer, Kyle, Pappas, John G, Moran, Ellen, Cappell, Joshua, Anyane Yeboa, Kwame, Abu-Libdeh, Bassam, Hediger, Matthias A, Chung, Wendy K, Elpeleg, Orly, Edvardson, Simon

“…L-serine plays an essential role in neuronal development and function. Although a non-essential amino acid, L-serine must be synthesised within the brain…”
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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia by Guissart, Claire, Latypova, Xenia, Rollier, Paul, Khan, Tahir N., Stamberger, Hannah, McWalter, Kirsty, Cho, Megan T., Kjaergaard, Susanne, Weckhuysen, Sarah, Lesca, Gaetan, Besnard, Thomas, Õunap, Katrin, Schema, Lynn, Chiocchetti, Andreas G., McDonald, Marie, de Bellescize, Julitta, Vincent, Marie, Van Esch, Hilde, Sattler, Shannon, Forghani, Irman, Thiffault, Isabelle, Freitag, Christine M., Barbouth, Deborah Sara, Cadieux-Dion, Maxime, Willaert, Rebecca, Guillen Sacoto, Maria J., Safina, Nicole P., Dubourg, Christèle, Grote, Lauren, Carré, Wilfrid, Saunders, Carol, Pajusalu, Sander, Farrow, Emily, Boland, Anne, Karlowicz, Danielle Hays, Deleuze, Jean-François, Wojcik, Monica H., Pressman, Rena, Isidor, Bertrand, Vogels, Annick, Van Paesschen, Wim, Al-Gazali, Lihadh, Al Shamsi, Aisha Mohamed, Claustres, Mireille, Pujol, Aurora, Sanders, Stephan J., Rivier, François, Leboucq, Nicolas, Cogné, Benjamin, Sasorith, Souphatta, Sanlaville, Damien, Retterer, Kyle, Odent, Sylvie, Katsanis, Nicholas, Bézieau, Stéphane, Koenig, Michel, Davis, Erica E., Pasquier, Laurent, Küry, Sébastien

“…RORα, the RAR-related orphan nuclear receptor alpha, is essential for cerebellar development. The spontaneous mutant mouse staggerer, with an ataxic gait…”
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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features by Okur, Volkan, Cho, Megan T., Henderson, Lindsay, Retterer, Kyle, Schneider, Michael, Sattler, Shannon, Niyazov, Dmitriy, Azage, Meron, Smith, Sharon, Picker, Jonathan, Lincoln, Sharyn, Tarnopolsky, Mark, Brady, Lauren, Bjornsson, Hans T., Applegate, Carolyn, Dameron, Amy, Willaert, Rebecca, Baskin, Berivan, Juusola, Jane, Chung, Wendy K.

“…Whole exome sequencing (WES) can be used to efficiently identify de novo genetic variants associated with genetically heterogeneous conditions including…”
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REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis by Bayram, Yavuz, White, Janson J., Elcioglu, Nursel, Cho, Megan T., Zadeh, Neda, Gedikbasi, Asuman, Palanduz, Sukru, Ozturk, Sukru, Cefle, Kivanc, Kasapcopur, Ozgur, Coban Akdemir, Zeynep, Pehlivan, Davut, Begtrup, Amber, Carvalho, Claudia M.B., Paine, Ingrid Sophie, Mentes, Ali, Bektas-Kayhan, Kivanc, Karaca, Ender, Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R.

“…Hereditary gingival fibromatosis (HGF) is the most common genetic form of gingival fibromatosis that develops as a slowly progressive, benign, localized or…”
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia by Berko, Esther R, Cho, Megan T, Eng, Christine, Shao, Yunru, Sweetser, David A, Waxler, Jessica, Robin, Nathaniel H, Brewer, Fallon, Donkervoort, Sandra, Mohassel, Payam, Bönnemann, Carsten G, Bialer, Martin, Moore, Christine, Wolfe, Lynne A, Tifft, Cynthia J, Shen, Yufeng, Retterer, Kyle, Millan, Francisca, Chung, Wendy K

“…The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. In this…”
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