Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores von Boyden, Steven E., Mahoney, Lane J., Kawahara, Genri, Myers, Jennifer A., Mitsuhashi, Satomi, Estrella, Elicia A., Duncan, Anna R., Dey, Friederike, DeChene, Elizabeth T., Blasko-Goehringer, Jessica M., Bönnemann, Carsten G., Darras, Basil T., Mendell, Jerry R., Lidov, Hart G. W., Nishino, Ichizo, Beggs, Alan H., Kunkel, Louis M., Kang, Peter B.

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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia von Boisson, Bertrand, Laplantine, Emmanuel, Dobbs, Kerry, Cobat, Aurélie, Tarantino, Nadine, Hazen, Melissa, Lidov, Hart G W, Hopkins, Gregory, Du, Likun, Belkadi, Aziz, Chrabieh, Maya, Itan, Yuval, Picard, Capucine, Fournet, Jean-Christophe, Eibel, Hermann, Tsitsikov, Erdyni, Pai, Sung-Yun, Abel, Laurent, Al-Herz, Waleed, Casanova, Jean-Laurent, Israel, Alain, Notarangelo, Luigi D

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Somatic variants in diverse genes leads to a spectrum of focal cortical malformations von Lai, Dulcie, Gade, Meethila, Yang, Edward, Koh, Hyun Yong, Lu, Jinfeng, Walley, Nicole M, Buckley, Anne F, Sands, Tristan T, Akman, Cigdem I, Mikati, Mohamad A, McKhann, Guy M, Goldman, James E, Canoll, Peter, Alexander, Allyson L, Park, Kristen L, Von Allmen, Gretchen K, Rodziyevska, Olga, Bhattacharjee, Meenakshi B, Lidov, Hart G W, Vogel, Hannes, Grant, Gerald A, Porter, Brenda E, Poduri, Annapurna H, Crino, Peter B, Heinzen, Erin L

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Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development von Li, Qun, Han, Zhiyuan, Singh, Navleen, Terré, Berta, Fame, Ryann M., Arif, Uzayr, Page, Thomas D., Zahran, Tasneem, Abdeltawab, Ahmed, Huang, Yuan, Cao, Ping, Wang, Jun, Lu, Hao, Lidov, Hart G. W., Surendran, Kameswaran, Wu, Lizhao, Virga, James Q., Zhao, Ying-Tao, Schüller, Ulrich, Wechsler-Reya, Robert J., Lehtinen, Maria K., Roy, Sudipto, Liu, Zhongmin, Stracker, Travis H., Zhao, Haotian

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Variants in DTNA cause a mild, dominantly inherited muscular dystrophy von Nascimento, Andres, Bruels, Christine C., Donkervoort, Sandra, Foley, A. Reghan, Codina, Anna, Milisenda, Jose C., Estrella, Elicia A., Li, Chengcheng, Pijuan, Jordi, Draper, Isabelle, Hu, Ying, Stafki, Seth A., Pais, Lynn S., Ganesh, Vijay S., O’Donnell-Luria, Anne, Syeda, Safoora B., Carrera-García, Laura, Expósito-Escudero, Jessica, Yubero, Delia, Martorell, Loreto, Pinal-Fernandez, Iago, Lidov, Hart G. W., Mammen, Andrew L., Grau-Junyent, Josep M., Ortez, Carlos, Palau, Francesc, Ghosh, Partha S., Darras, Basil T., Jou, Cristina, Kunkel, Louis M., Hoenicka, Janet, Bönnemann, Carsten G., Kang, Peter B., Natera-de Benito, Daniel

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The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States von Reddy, Hemakumar M, Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D, Mitsuhashi, Satomi, Darras, Basil T, Amato, Anthony A, Lidov, Hart Gw, Brownstein, Catherine A, Margulies, David M, Yu, Timothy W, Salih, Mustafa A, Kunkel, Louis M, MacArthur, Daniel G, Kang, Peter B

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Differential neuronal vulnerability varies according to specific cardiopulmonary bypass insult in a porcine survival model von Ishibashi, Nobuyuki, MD, Iwata, Yusuke, MD, Okamura, Toru, MD, Zurakowski, David, PhD, Lidov, Hart G.W., MD, Jonas, Richard A., MD

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Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine von Mancebo, Julia Garcia, Sack, Kristen, Hartford, Jay, Dominguez, Saffron, Balcarcel-Monzon, Michelle, Chartier, Elizabeth, Nguyen, Tien, Cole, Alexis R., Sperotto, Francesca, Harrild, David M., Polizzotti, Brian D., Everett, Allen D., Packard, Alan B., Dearling, Jason, Nedder, Arthur G., Warfield, Simon, Yang, Edward, Lidov, Hart G. W., Kheir, John N., Peng, Yifeng

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Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas von Brastianos, Priscilla K, Taylor-Weiner, Amaro, Manley, Peter E, Jones, Robert T, Dias-Santagata, Dora, Thorner, Aaron R, Lawrence, Michael S, Rodriguez, Fausto J, Bernardo, Lindsay A, Schubert, Laura, Sunkavalli, Ashwini, Shillingford, Nick, Calicchio, Monica L, Lidov, Hart G W, Taha, Hala, Martinez-Lage, Maria, Santi, Mariarita, Storm, Phillip B, Lee, John Y K, Palmer, James N, Adappa, Nithin D, Scott, R Michael, Dunn, Ian F, Laws, Edward R, Stewart, Chip, Ligon, Keith L, Hoang, Mai P, Van Hummelen, Paul, Hahn, William C, Louis, David N, Resnick, Adam C, Kieran, Mark W, Getz, Gad, Santagata, Sandro

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Disruption of muscle membrane and phenotype divergence in two novel mouse models of dysferlin deficiency von Ho, Mengfatt, Post, Cristina M., Donahue, Leah R., Lidov, Hart G.W., Bronson, Roderick T., Goolsby, Holly, Watkins, Simon C., Cox, Gregory A., Brown, Robert H.

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Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production von Lun, Melody P, Johnson, Matthew B, Broadbelt, Kevin G, Watanabe, Momoko, Kang, Young-Jin, Chau, Kevin F, Springel, Mark W, Malesz, Alexandra, Sousa, André M M, Pletikos, Mihovil, Adelita, Tais, Adelita, Tai, Calicchio, Monica L, Zhang, Yong, Holtzman, Michael J, Lidov, Hart G W, Sestan, Nenad, Steen, Hanno, Monuki, Edwin S, Lehtinen, Maria K

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Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy von Winawer, Melodie R., Griffin, Nicole G., Samanamud, Jorge, Baugh, Evan H., Rathakrishnan, Dinesh, Ramalingam, Senthilmurugan, Zagzag, David, Schevon, Catherine A., Dugan, Patricia, Hegde, Manu, Sheth, Sameer A., McKhann, Guy M., Doyle, Werner K., Grant, Gerald A., Porter, Brenda E., Mikati, Mohamad A., Muh, Carrie R., Malone, Colin D., Bergin, Ann Marie R., Peters, Jurriaan M., McBrian, Danielle K., Pack, Alison M., Akman, Cigdem I., LaCoursiere, Christopher M., Keever, Katherine M., Madsen, Joseph R., Yang, Edward, Lidov, Hart G. W., Shain, Catherine, Allen, Andrew S., Canoll, Peter D., Crino, Peter B., Poduri, Annapurna H., Heinzen, Erin L.

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The choroid plexus synergizes with immune cells during neuroinflammation von Xu, Huixin, Lotfy, Peter, Gelb, Sivan, Pragana, Aja, Hehnly, Christine, Byer, Lillian I.J., Shipley, Frederick B., Zawadzki, Miriam E., Cui, Jin, Deng, Liwen, Taylor, Milo, Webb, Mya, Lidov, Hart G.W., Andermann, Mark L., Chiu, Isaac M., Ordovas-Montanes, Jose, Lehtinen, Maria K.

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Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE von Boyden, Steven E, Duncan, Anna R, Estrella, Elicia A, Lidov, Hart G W, Mahoney, Lane J, Katz, Jonathan S, Kunkel, Louis M, Kang, Peter B

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Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene von Barba, Carmen, Blumcke, Ingmar, Winawer, Melodie R., Hartlieb, Till, Kang, Hoon-Chul, Grisotto, Laura, Chipaux, Mathilde, Bien, Christian G., Heřmanovská, Barbora, Porter, Brenda E., Lidov, Hart G.W., Cetica, Valentina, Woermann, Friedrich G., Lopez-Rivera, Javier A., Canoll, Peter D., Mader, Irina, D'Incerti, Ludovico, Baldassari, Sara, Yang, Edward, Gaballa, Ahmed, Vogel, Hannes, Straka, Barbora, Macconi, Letizia, Polster, Tilman, Grant, Gerald A., Krsková, Lenka, Shin, Hui Jin, Ko, Ara, Crino, Peter B., Krsek, Pavel, Lee, Jeong Ho, Lal, Dennis, Baulac, Stéphanie, Poduri, Annapurna, Guerrini, Renzo

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Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells von Li, Li, Grausam, Katie B., Wang, Jun, Lun, Melody P., Ohli, Jasmin, Lidov, Hart G. W., Calicchio, Monica L., Zeng, Erliang, Salisbury, Jeffrey L., Wechsler-Reya, Robert J., Lehtinen, Maria K., Schüller, Ulrich, Zhao, Haotian

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Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons von Lidov, Hart G. W, Byers, Timothy J, Watkins, Simon C, Kunkel, Louis M

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EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy von Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G W, Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M, Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F, Manchester, David, Boyer, Philip J, Manzur, Adnan Y, Lourenco, Charles Marques, Pilz, Daniela T, Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K, Rogers, R Curtis, Ryan, Monique M, Brown, Natasha J, McLean, Catriona A, Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A, Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, Jungbluth, Heinz

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Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy von Miller, Katherine E., Rivaldi, Adithe C., Shinagawa, Noriyuki, Sran, Sahib, Navarro, Jason B., Westfall, Jesse J., Miller, Anthony R., Roberts, Ryan D., Akkari, Yassmine, Supinger, Rachel, Hester, Mark E., Marhabaie, Mohammad, Gade, Meethila, Lu, Jinfeng, Rodziyevska, Olga, Bhattacharjee, Meenakshi B., Von Allmen, Gretchen K., Yang, Edward, Lidov, Hart G. W., Harini, Chellamani, Shah, Manish N., Leonard, Jeffrey, Pindrik, Jonathan, Shaikhouni, Ammar, Goldman, James E., Pierson, Christopher R., Thomas, Diana L., Boué, Daniel R., Ostendorf, Adam P., Mardis, Elaine R., Poduri, Annapurna, Koboldt, Daniel C., Heinzen, Erin L., Bedrosian, Tracy A.

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Desmuslin, An Intermediate Filament Protein That Interacts with α-Dystrobrevin and Desmin von Mizuno, Yuji, Thompson, Terri G., Guyon, Jeffrey R., Hart G. W. Lidov, Brosius, Melissa, Imamura, Michihiro, Ozawa, Eijiro, Watkins, Simon C., Kunkel, Louis M.

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