Charcot-Marie-Tooth disease von Szigeti, Kinga, Lupski, James R

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome von Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas

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Charcot-Marie-Tooth disease and pathways to molecular based therapies von Harel, T., Lupski, J.R.

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Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia von Leipoldt, M, Erdel, M, Bien-Willner, GA, Smyk, M, Theurl, M, Yatsenko, SA, Lupski, JR, Lane, AH, Shanske, AL, Stankiewicz, P, Scherer, G

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Whole‐genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome von Plesser Duvdevani, Morasha, Pettersson, Maria, Eisfeldt, Jesper, Avraham, Ortal, Dagan, Judith, Frumkin, Ayala, Lupski, James R., Lindstrand, Anna, Harel, Tamar

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Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome von Zhang, Chaofan, Mazzeu, Juliana F., Eisfeldt, Jesper, Grochowski, Christopher M., White, Janson, Akdemir, Zeynep C., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lindstrand, Anna, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M. B.

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Cytogenetically visible inversions are formed by multiple molecular mechanisms von Pettersson, Maria, Grochowski, Christopher M., Wincent, Josephine, Eisfeldt, Jesper, Breman, Amy M., Cheung, Sau W., Krepischi, Ana C. V., Rosenberg, Carla, Lupski, James R., Ottosson, Jesper, Lovmar, Lovisa, Gacic, Jelena, Lundberg, Elisabeth S., Nilsson, Daniel, Carvalho, Claudia M. B., Lindstrand, Anna

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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes von Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L., Lupski, James R., Carvalho, Claudia M.B.

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Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome von Grochowski, Christopher M., Krepischi, Ana C., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.

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MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2 von Verhoeven, Kristien, Claeys, Kristl G., Züchner, Stephan, Schröder, J. Michael, Weis, Joachim, Ceuterick, Chantal, Jordanova, Albena, Nelis, Eva, De Vriendt, Els, Van Hul, Matthias, Seeman, Pavel, Mazanec, Radim, Saifi, Gulam Mustafa, Szigeti, Kinga, Mancias, Pedro, Butler, Ian J., Kochanski, Andrzej, Ryniewicz, Barbara, De Bleecker, Jan, Van den Bergh, Peter, Verellen, Christine, Van Coster, Rudy, Goemans, Nathalie, Auer-Grumbach, Michaela, Robberecht, Wim, Milic Rasic, Vedrana, Nevo, Yoram, Tournev, Ivajlo, Guergueltcheva, Velina, Roelens, Filip, Vieregge, Peter, Vinci, Paolo, Moreno, Maria Teresa, Christen, H.-J., Shy, Michael E., Lupski, James R., Vance, Jeffery M., De Jonghe, Peter, Timmerman, Vincent

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Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect von Claramunt, R, Pedrola, L, Sevilla, T, López de Munain, A, Berciano, J, Cuesta, A, Sánchez-Navarro, B, Millán, J M, Saifi, G M, Lupski, J R, Vílchez, J J, Espinós, C, Palau, F

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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases von Edelman, EA, Girirajan, S, Finucane, B, Patel, PI, Lupski, JR, Smith, ACM, Elsea, SH

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Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22 von Carvalho, CMB, Bartnik, M, Pehlivan, D, Fang, P, Shen, J, Lupski, JR

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Ten years of Genome Medicine von Auffray, C, Griffin, JL, Khoury, MJ, Lupski, JR, Schwab, M

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Are copy-number gains in 17p11.2 not involving RAI1 still Potocki-Lupski Syndrome? von Grochowski, CM, Potocki, L, Lindstrand, A, Carvalho, CMB, Lupski, JR

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Evaluation of distal symmetric polyneuropathy: The role of autonomic testing, nerve biopsy, and skin biopsy (an evidence-based review) von England, J.D., Gronseth, G.S., Franklin, G., Carter, G.T., Kinsella, L.J., Cohen, J.A., Asbury, A.K., Szigeti, K., Lupski, J.R., Latov, N., Lewis, R.A., Low, P.A., Fisher, M.A., Herrmann, D., Howard, J.F., Lauria, G., Miller, R.G., Polydefkis, M., Sumner, A.J.

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Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci von Grochowski, Christopher M., Bengtsson, Jesse D., Du, Haowei, Gandhi, Mira, Lun, Ming Yin, Mehaffey, Michele G., Park, KyungHee, Höps, Wolfram, Benito, Eva, Hasenfeld, Patrick, Korbel, Jan O., Mahmoud, Medhat, Paulin, Luis F., Jhangiani, Shalini N., Hwang, James Paul, Bhamidipati, Sravya V., Muzny, Donna M., Fatih, Jawid M., Gibbs, Richard A., Pendleton, Matthew, Harrington, Eoghan, Juul, Sissel, Lindstrand, Anna, Sedlazeck, Fritz J., Pehlivan, Davut, Lupski, James R., Carvalho, Claudia M.B.

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Molecular and phenotypic characterization of atypical Williams-Beuren syndrome von Euteneuer, J., Carvalho, C.M.B., Kulkarni, S., Vineyard, M., Mark Grady, R., Lupski, J.R., Shinawi, M.

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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome von Yatsenko, SA, Yatsenko, AN, Szigeti, K, Craigen, WJ, Stankiewicz, P, Cheung, SW, Lupski, JR

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Exploring the utility of whole-exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness von Hanchard, NA, Murdock, DR, Magoulas, PL, Bainbridge, M, Muzny, D, Wu, YQ, Wang, M, McGuire, AL, Lupski, JR, Gibbs, RA, Brown, CW

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