Mutations in SCN3A cause early infantile epileptic encephalopathy von Zaman, Tariq, Helbig, Ingo, Božović, Ivana Babić, DeBrosse, Suzanne D., Bergqvist, A. Christina, Wallis, Kimberly, Medne, Livija, Maver, Aleš, Peterlin, Borut, Helbig, Katherine L., Zhang, Xiaohong, Goldberg, Ethan M.

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Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis von Conlin, Laura K., Thiel, Brian D., Bonnemann, Carsten G., Medne, Livija, Ernst, Linda M., Zackai, Elaine H., Deardorff, Matthew A., Krantz, Ian D., Hakonarson, Hakon, Spinner, Nancy B.

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High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications von Shaikh, Tamim H, Gai, Xiaowu, Perin, Juan C, Glessner, Joseph T, Xie, Hongbo, Murphy, Kevin, O'Hara, Ryan, Casalunovo, Tracy, Conlin, Laura K, D'Arcy, Monica, Frackelton, Edward C, Geiger, Elizabeth A, Haldeman-Englert, Chad, Imielinski, Marcin, Kim, Cecilia E, Medne, Livija, Annaiah, Kiran, Bradfield, Jonathan P, Dabaghyan, Elvira, Eckert, Andrew, Onyiah, Chioma C, Ostapenko, Svetlana, Otieno, F George, Santa, Erin, Shaner, Julie L, Skraban, Robert, Smith, Ryan M, Elia, Josephine, Goldmuntz, Elizabeth, Spinner, Nancy B, Zackai, Elaine H, Chiavacci, Rosetta M, Grundmeier, Robert, Rappaport, Eric F, Grant, Struan F A, White, Peter S, Hakonarson, Hakon

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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis von Weiss, Karin, Lazar, Hayley P., Kurolap, Alina, Martinez, Ariel F., Paperna, Tamar, Cohen, Lior, Smeland, Marie F., Whalen, Sandra, Heide, Solveig, Keren, Boris, Terhal, Pauline, Irving, Melita, Takaku, Motoki, Roberts, John D., Petrovich, Robert M., Schrier Vergano, Samantha A., Kenney, Amy, Hove, Hanne, DeChene, Elizabeth, Quinonez, Shane C., Colin, Estelle, Ziegler, Alban, Rumple, Melissa, Jain, Mahim, Monteil, Danielle, Roeder, Elizabeth R., Nugent, Kimberly, van Haeringen, Arie, Gambello, Michael, Santani, Avni, Medne, Līvija, Krock, Bryan, Skraban, Cara M., Zackai, Elaine H., Dubbs, Holly A., Smol, Thomas, Ghoumid, Jamal, Parker, Michael J., Wright, Michael, Turnpenny, Peter, Clayton-Smith, Jill, Metcalfe, Kay, Kurumizaka, Hitoshi, Gelb, Bruce D., Baris Feldman, Hagit, Campeau, Philippe M., Muenke, Maximilian, Wade, Paul A., Lachlan, Katherine

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Automated Clinical Exome Reanalysis Reveals Novel Diagnoses von Baker, Samuel W., Murrell, Jill R., Nesbitt, Addie I., Pechter, Kieran B., Balciuniene, Jorune, Zhao, Xiaonan, Yu, Zhenming, Denenberg, Elizabeth H., DeChene, Elizabeth T., Wilkens, Alisha B., Bhoj, Elizabeth J., Guan, Qiaoning, Dulik, Matthew C., Conlin, Laura K., Abou Tayoun, Ahmad N., Luo, Minjie, Wu, Chao, Cao, Kajia, Sarmady, Mahdi, Bedoukian, Emma C., Tarpinian, Jennifer, Medne, Livija, Skraban, Cara M., Deardorff, Matthew A., Krantz, Ian D., Krock, Bryan L., Santani, Avni B.

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Clinical utility of exome sequencing in infantile heart failure von Ritter, Alyssa, Bedoukian, Emma, Berger, Justin H., Copenheaver, Deborah, Gray, Christopher, Krantz, Ian, Izumi, Kosuke, Juusola, Jane, Leonard, Jacqueline, Lin, Kimberly, Medne, Livija, Santani, Avni, Skraban, Cara, Yang, Sandra, Ahrens-Nicklas, Rebecca C.

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PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care von Havrilla, James M, Singaravelu, Anbumalar, Driscoll, Dennis M, Minkovsky, Leonard, Helbig, Ingo, Medne, Livija, Wang, Kai, Krantz, Ian, Desai, Bimal R

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Use of the Wilmington Robotic Exoskeleton to Improve Upper Extremity Function in Patients With Duchenne Muscular Dystrophy von Estilow, Timothy, Glanzman, Allan M, Powers, Kacy, Moll, Ashley, Flickinger, Jean, Medne, Līvija, Tennekoon, Gihan, Yum, Sabrina W

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Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum von BHARUCHA-GOEBEL, Diana Xerxes, SANTI, Mariarita, MONNIER, Nicole, BONNEMANN, Carsten G, MEDNE, Livija, ZUKOSKY, Kristin, DASTGIR, Jahannaz, SHIEH, Perry B, WINDER, Thomas, TENNEKOON, Gihan, FINKEL, Richard S, DOWLING, James J

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Genotype-phenotype correlations in recessive RYR1-related myopathies von Amburgey, Kimberly, Bailey, Angela, Hwang, Jean H, Tarnopolsky, Mark A, Bonnemann, Carsten G, Medne, Livija, Mathews, Katherine D, Collins, James, Daube, Jasper R, Wellman, Gregory P, Callaghan, Brian, Clarke, Nigel F, Dowling, James J

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Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24 von Ahmad, Zahid, Zackai, Elaine, Medne, Livija, Garg, Abhimanyu

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Clinical and molecular spectrum of CHOPS syndrome von Raible, Sarah E., Mehta, Devanshi, Bettale, Chiara, Fiordaliso, Sarah, Kaur, Maninder, Medne, Livija, Rio, Marlene, Haan, Eric, White, Susan M., Cusmano‐Ozog, Kristina, Nishi, Eriko, Guo, Yiran, Wu, Honglin, Shi, Xiaoqing, Zhao, Qingjie, Zhang, Xueqin, Lei, Qi, Lu, Aimei, He, Xiyu, Okamoto, Nobuhiko, Miyake, Noriko, Piccione, Joseph, Allen, Julian, Matsumoto, Naomichi, Pipan, Mary, Krantz, Ian D., Izumi, Kosuke

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2 von Ballif, Blake C, Hornor, Sara A, Jenkins, Elizabeth, Madan-Khetarpal, Suneeta, Surti, Urvashi, Jackson, Kelly E, Asamoah, Alexander, Brock, Pamela L, Gowans, Gordon C, Conway, Robert L, Graham, John M, Medne, Livija, Zackai, Elaine H, Shaikh, Tamim H, Geoghegan, Joel, Selzer, Rebecca R, Eis, Peggy S, Bejjani, Bassem A, Shaffer, Lisa G

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum von Boland, Elena, Clayton-Smith, Jill, Woo, Victoria G., McKee, Shane, Manson, Forbes D.C., Medne, Livija, Zackai, Elaine, Swanson, Eric A., Fitzpatrick, David, Millen, Kathleen J., Sherr, Elliott H., Dobyns, William B., Black, Graeme C.M.

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Clinical and genetic characterization of manifesting carriers of DMD mutations von Soltanzadeh, Payam, Friez, Michael J, Dunn, Diane, von Niederhausern, Andrew, Gurvich, Olga L, Swoboda, Kathryn J, Sampson, Jacinda B, Pestronk, Alan, Connolly, Anne M, Florence, Julaine M, Finkel, Richard S, Bönnemann, Carsten G, Medne, Livija, Mendell, Jerry R, Mathews, Katherine D, Wong, Brenda L, Sussman, Michael D, Zonana, Jonathan, Kovak, Karen, Gospe, Sidney M, Gappmaier, Eduard, Taylor, Laura E, Howard, Michael T, Weiss, Robert B, Flanigan, Kevin M

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Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: Five novel mutations and review of the literature von Mirzaa, Ghayda M., Enyedi, Laura, Parsons, Gretchen, Collins, Sarah, Medne, Livija, Adams, Carissa, Ward, Thomas, Davitt, Bradley, Bicknese, Alma, Zackai, Elaine, Toriello, Helga, Dobyns, William B., Christian, Susan

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Common and variable clinical, histological, and imaging findings of recessive RYR1 -related centronuclear myopathy patients von Neto, Osorio Abath, de Araújo Martins Moreno, Cristiane, Malfatti, Edoardo, Donkervoort, Sandra, Böhm, Johann, Guimarães, Júlio Brandão, Foley, A. Reghan, Mohassel, Payam, Dastgir, Jahannaz, Bharucha-Goebel, Diana Xerxes, Monges, Soledad, Lubieniecki, Fabiana, Collins, James, Medne, Līvija, Santi, Mariarita, Yum, Sabrina, Banwell, Brenda, Salort-Campana, Emmanuelle, Rendu, John, Fauré, Julien, Yis, Uluc, Eymard, Bruno, Cheraud, Chrystel, Schneider, Raphaël, Thompson, Julie, Lornage, Xaviere, Mesrob, Lilia, Lechner, Doris, Boland, Anne, Deleuze, Jean-François, Reed, Umbertina Conti, Oliveira, Acary Souza Bulle, Biancalana, Valérie, Romero, Norma B, Bönemann, Carsten G, Laporte, Jocelyn, Zanoteli, Edmar

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Confirming an expanded spectrum of SCN2A mutations: a case series von Matalon, Dena, Goldberg, Ethan, Medne, Livija, Marsh, Eric D.

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DMD pseudoexon mutations: splicing efficiency, phenotype, and potential therapy von Gurvich, Olga L., Tuohy, Therese M., Howard, Michael T., Finkel, Richard S., Medne, Livija, Anderson, Christine B., Weiss, Robert B., Wilton, Steve D., Flanigan, Kevin M.

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Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features von Izumi, Kosuke, Housam, Ryan, Kapadia, Chirag, Stallings, Virginia A., Medne, Livija, Shaikh, Tamim H., Kublaoui, Bassil M., Zackai, Elaine H., Grimberg, Adda

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