De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females
Webster, R., Cho, M.T., Retterer, K., Millan, F., Nowak, C., Douglas, J., Ahmad, A., Raymond, G.V., Johnson, M.R., Pujol, A., Begtrup, A., McKnight, D., Devinsky, O., Chung, W.K.
Published in Clinical genetics (01.05.2017)
Published in Clinical genetics (01.05.2017)
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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome
Vivero, M., Cho, M.T., Begtrup, A., Wentzensen, I.M., Walsh, L., Payne, K., Zarate, Y.A., Bosanko, K., Schaefer, G.B., DeBrosse, S., Pollack, L., Mason, K., Retterer, K., DeWard, S., Juusola, J., Chung, W.K.
Published in Clinical genetics (01.06.2017)
Published in Clinical genetics (01.06.2017)
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Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact
Wynn, J., Ottman, R., Duong, J., Wilson, A.L., Ahimaz, P., Martinez, J., Rabin, R., Rosen, E., Webster, R., Au, C., Cho, M.T., Egan, C., Guzman, E., Primiano, M., Shaw, J.E., Sisson, R., Klitzman, R.L., Appelbaum, P.S., Lichter‐Konecki, U., Anyane‐Yeboa, K., Iglesias, A., Chung, W.K.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance
Powis, Z., Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro‐Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.
Published in Clinical genetics (01.04.2018)
Published in Clinical genetics (01.04.2018)
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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review
van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures
Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.
Published in Clinical genetics (01.08.2017)
Published in Clinical genetics (01.08.2017)
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Hemodynamic effects on atherosclerosis-prone coronary artery: wall shear stress/rate distribution and impedance phase angle in coronary and aortic circulation
Lee, B K, Kwon, H M, Hong, B K, Park, B E, Suh, S H, Cho, M T, Lee, C S, Kim, M C, Kim, C J, Yoo, S S, Kim, H S
Published in Yonsei medical journal (01.08.2001)
Published in Yonsei medical journal (01.08.2001)
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Molecular characterization of a new immunoglobulin superfamily protein with potential roles in opioid binding and cell contact
Schofield, P. R., McFarland, K. C., Hayflick, J. S., Wilcox, J. N., Cho, T. M., Roy, S., Lee, N. M., Loh, H. H., Seeburg, P. H.
Published in The EMBO journal (01.02.1989)
Published in The EMBO journal (01.02.1989)
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A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation
Ferreira, Carlos R., Xia, Zhi-Jie, Clément, Aurélie, Parry, David A., Davids, Mariska, Taylan, Fulya, Sharma, Prashant, Turgeon, Coleman T., Blanco-Sánchez, Bernardo, Ng, Bobby G., Logan, Clare V., Wolfe, Lynne A., Solomon, Benjamin D., Cho, Megan T., Douglas, Ganka, Carvalho, Daniel R., Bratke, Heiko, Haug, Marte Gjøl, Phillips, Jennifer B., Wegner, Jeremy, Tiemeyer, Michael, Aoki, Kazuhiro, Nordgren, Ann, Hammarsjö, Anna, Duker, Angela L., Rohena, Luis, Hove, Hanne Buciek, Ek, Jakob, Adams, David, Tifft, Cynthia J., Onyekweli, Tito, Weixel, Tara, Macnamara, Ellen, Radtke, Kelly, Powis, Zöe, Earl, Dawn, Gabriel, Melissa, Russi, Alvaro H. Serrano, Brick, Lauren, Kozenko, Mariya, Tham, Emma, Raymond, Kimiyo M., Phillips, John A., Tiller, George E., Wilson, William G., Hamid, Rizwan, Malicdan, May C.V., Nishimura, Gen, Grigelioniene, Giedre, Jackson, Andrew, Westerfield, Monte, Bober, Michael B., Gahl, William A., Freeze, Hudson H.
Published in American journal of human genetics (04.10.2018)
Published in American journal of human genetics (04.10.2018)
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