Результаты поиска - Cho, Megan T.

Evolving Roles of Genetic Counselors in the Clinical Laboratory по Cho, Megan T., Guy, Carrie

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Congenital methemoglobinemia type II in a 5‐year‐old boy по Mannino, Elizabeth A., Pluim, Thomas, Wessler, Jacob, Cho, Megan T., Juusola, Jane, Schrier Vergano, Samantha A.

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability по Rohena, Luis, Neidich, Julie, Truitt Cho, Megan, Gonzalez, Kelly DF, Tang, Sha, Devinsky, Orrin, Chung, Wendy K

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A qualitative study of Latinx parents’ experiences of clinical exome sequencing по Luksic, Daniel, Sukhu, Radha, Koval, Carrie, Cho, Megan T, Espinal, Aileen, Rufino, Katiana, Loarte, Tania Vasquez, Chung, Wendy K, Wynn, Julia

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De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features по Webster, Emily, Cho, Megan T., Alexander, Nora, Desai, Sonal, Naidu, Sakkubai, Bekheirnia, Mir Reza, Lewis, Andrea, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure по Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf

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Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy по Peng, Yanyan, Shinde, Deepali N, Alexander Valencia, C, Mo, Jun-Song, Rosenfeld, Jill, Cho, Megan Truitt, Chamberlin, Adam, Li, Zhuo, Liu, Jie, Gui, Baoheng

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Advancing the genetic counseling profession through research: Identification of priorities by the National Society of Genetic Counselors research task force по Senter, Leigha, Austin, Jehannine C., Carey, Meghan, Cho, Megan T., Harris, Stephanie L., Linnenbringer, Erin L., MacFarlane, Ian M., Pan, Vivian Y., Quillin, John M., Wynn, Julia, Hooker, Gillian W.

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De novo mutations in PURA are associated with hypotonia and developmental delay по Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

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De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features по Tanaka, Akemi J., Cho, Megan T., Retterer, Kyle, Jones, Julie R., Nowak, Catherine, Douglas, Jessica, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Schaefer, G. Bradley, Kaylor, Julie, Rahman, Omar A., Telegrafi, Aida, Friedman, Bethany, Douglas, Ganka, Monaghan, Kristin G., Chung, Wendy K.

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De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly по Ye, Yizhou, Cho, Megan T., Retterer, Kyle, Alexander, Nora, Ben-Omran, Tawfeg, Al-Mureikhi, Mariam, Cristian, Ingrid, Wheeler, Patricia G., Crain, Carrie, Zand, Dina, Weinstein, Veronique, Vernon, Hilary J., McClellan, Rebecca, Krishnamurthy, Vidya, Vitazka, Patrik, Millan, Francisca, Chung, Wendy K.

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Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects по 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.

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Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females по 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.

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De Novo Missense Variants in PPP2R5D Are Associated with Intellectual Disability, Macrocephaly, Hypotonia, and Autism по Shang, Linshan, Henderson, Lindsay B., Cho, Megan T., Petrey, Donald S., Fong, Chin-To, Haude, Katrina M., Shur, Natasha, Lundberg, Julie, Hauser, Natalie, Carmichael, Jason, Innis, Jeffrey, Schuette, Jane, Wu, Yvonne W., Asaikar, Shailesh, Pearson, Margaret, Folk, Leandra, Retterer, Kyle, Monaghan, Kristin G., Chung, Wendy K.

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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia по 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

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Mutations in HIVEP2 are associated with developmental delay, intellectual disability and dysmorphic features по Steinfeld, Hallie, Cho, Megan T., Retterer, Kyle, Person, Rick, Schaefer, G. Bradley, Danylchuk, Noelle, Malik, Saleem, Wechsler, Stephanie Burns, Wheeler, Patricia G., van Gassen, Koen L.I., Terhal, P.A., Verhoeven, Virginie J.M., van Slegtenhorst, Marjon A., Monaghan, Kristin G., Henderson, Lindsay B., Chung, Wendy K.

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De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay по Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.

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De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism по Tanaka, Akemi J., Cho, Megan T., Willaert, Rebecca, Retterer, Kyle, Zarate, Yuri A., Bosanko, Katie, Stefans, Vikki, Oishi, Kimihiko, Williamson, Amy, Wilson, Golder N., Basinger, Alice, Barbaro-Dieber, Tina, Ortega, Lucia, Sorrentino, Susanna, Gabriel, Melissa K., Anderson, Ilse J., Sacoto, Maria J. Guillen, Schnur, Rhonda E., Chung, Wendy K.

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Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability по Pilarowski, Genay O., Vernon, Hilary J., Applegate, Carolyn D., Boukas, Leandros, Cho, Megan T., Gurnett, Christina A., Benke, Paul J., Beaver, Erin, Heeley, Jennifer M., Medne, Livija, Krantz, Ian D., Azage, Meron, Niyazov, Dmitriy, Henderson, Lindsay B., Wentzensen, Ingrid M., Baskin, Berivan, Guillen Sacoto, Maria J., Bowman, Gregory D., Bjornsson, Hans Tomas

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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact по Wynn, Julia, Ottman, Ruth, Duong, Jimmy, Wilson, Ashley L, Ahimaz, Priyanka, Martinez, Josue, Rabin, Rachel, Rosen, Emily, Webster, Rachel, Au, Catherine, Cho, Megan T., Egan, Claire, Guzman, Edwin, Primiano, Michelle, Shaw, Jessica E, Sisson, Rebecca, Klitzman, Robert L., Appelbaum, Paul S., Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Iglesias, Alejandro, Chung, Wendy K.

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