De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females von Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.

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Brain Abnormalities in Patients with Germline Variants in H3F3 : Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors von Alves, C A P F, Sherbini, O, D'Arco, F, Steel, D, Kurian, M A, Radio, F C, Ferrero, G B, Carli, D, Tartaglia, M, Balci, T B, Powell-Hamilton, N N, Schrier Vergano, S A, Reutter, H, Hoefele, J, Günthner, R, Roeder, E R, Littlejohn, R O, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, C B, Mercimek-Andrews, S, Denecke, J, Lyons, M J, Klopstock, T, Bhoj, E J, Bryant, L, Vanderver, A

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MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype von Smol, T., Petit, F., Piton, A., Keren, B., Sanlaville, D., Afenjar, A., Baker, S., Bedoukian, E. C., Bhoj, E. J., Bonneau, D., Boudry-Labis, E., Bouquillon, S., Boute-Benejean, O., Caumes, R., Chatron, N., Colson, C., Coubes, C., Coutton, C., Devillard, F., Dieux-Coeslier, A., Doco-Fenzy, M., Ewans, L. J., Faivre, L., Fassi, E., Field, M., Fournier, C., Francannet, C., Genevieve, D., Giurgea, I., Goldenberg, A., Green, A. K., Guerrot, A. M., Heron, D., Isidor, B., Keena, B. A., Krock, B. L., Kuentz, P., Lapi, E., Le Meur, N., Lesca, G., Li, D., Marey, I., Mignot, C., Nava, C., Nesbitt, A., Nicolas, G., Roche-Lestienne, C., Roscioli, T., Satre, V., Santani, A., Stefanova, M., Steinwall Larsen, S., Saugier-Veber, P., Picker-Minh, S., Thuillier, C., Verloes, A., Vieville, G., Wenzel, M., Willems, M., Whalen, S., Zarate, Y. A., Ziegler, A., Manouvrier-Hanu, S., Kalscheuer, V. M., Gerard, B., Ghoumid, Jamal

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Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosi... von Bhoj, E. J., Li, M., Ahrens-Nicklas, R., Pyle, L. C., Wang, J., Zhang, V. W., Clarke, C., Wong, L. J., Sondheimer, N., Ficicioglu, C., Yudkoff, M.

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Pathogenic variant in EPHB4 results in central conducting lymphatic anomaly von Li, Dong, Wenger, Tara L, Seiler, Christoph, March, Michael E, Gutierrez-Uzquiza, Alvaro, Kao, Charlly, Bhoj, Elizabeth, Tian, Lifeng, Rosenbach, Misha, Liu, Yichuan, Robinson, Nora, Behr, Mechenzie, Chiavacci, Rosetta, Hou, Cuiping, Wang, Tiancheng, Bakay, Marina, Pellegrino da Silva, Renata, Perkins, Jonathan A, Sleiman, Patrick, Levine, Michael A, Hicks, Patricia J, Itkin, Maxim, Dori, Yoav, Hakonarson, Hakon

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Expanding the spectrum of microdeletion 4q21 syndrome: A partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and pierr... von Bhoj, Elizabeth, Halbach, Sara, McDonald-McGinn, Donna, Tan, Christopher, Lande, Rachel, Waggoner, Darrel, Zackai, Elaine

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Late-onset partial complex seizures secondary to cortical dysplasia in a patient with maternal vitamin K deficient embryopathy: Comments on the article by Toriello et al. [2013] an... von Bhoj, Elizabeth, Dubbs, Holly, McDonald-McGinn, Donna, Zackai, Elaine

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De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females von Polla, DL, Bhoj, EJ, Verheij, JBGM, Wassink-Ruiter, JSK, Reis, A, Deshpande, C, Gregor, A, Hill-Karfe, K, Silfhout, ATV, Pfundt, R, Bongers, EMHF, Hakonarson, H, de, Brouwer APM

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Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development von Bhoj, Elizabeth J, Ramos, Purita, Baker, Linda A, Cost, Nicholas, Nordenskjöld, Agneta, Elder, Frederick F, Bleyl, Steven B, Bowles, Neil E, Arrington, Cammon B, Delhomme, Brigitte, Vanhoutteghem, Amandine, Djian, Philippe, Zinn, Andrew R

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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia von Yap, ZY, Efthymiou, S, Seiffert, S, Parra, KV, Lee, S, Nasca, A, Maroofian, R, Schrauwen, I, Pendziwiat, M, Jung, S, Bhoj, E, Striano, P, Mankad, K, Vona, B, Cuddapah, S, Wagner, A, Alvi, JR, Davoudi-Dehaghani, E, Fallah, M-S, Gannavarapu, S, Lamperti, C, Legati, A, Murtaza, BN, Nadeem, MS, Rehman, MU, Saeidi, K, Salpietro, V, Von Spiczak, S, Sandoval, A, Zeinali, S, Zeviani, M, Reich, A, Jang, C, Helbig, I, Barakat, TS, Ghezzi, D, Leal, SM, Weber, Y, Houlden, H, Yoon, WH

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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature von Rots, D., Chater-Diehl, E., Dingemans, A.J.M., Goodman, S.J., Siu, M.T., Cytrynbaum, C., Choufani, S., Hoang, N., Walker, S., Awamleh, Z., Charkow, J., Meyn, S., Pfundt, R., Rinne, T., Gardeitchik, T., Vries, B.B.A. de, Deden, A.C., Leenders, E., Kwint, M., Stumpel, C.T.R.M., Stevens, S.J.C., Vermeulen, J.R., Harssel, J.V.T. van, Bosch, D.G.M., Gassen, K.L.I. van, Binsbergen, E. van, Geus, C.M. de, Brackel, H., Hempel, M., Lessel, D., Denecke, J., Slavotinek, A., Strober, J., Crunk, A., Folk, L., Wentzensen, I.M., Yang, H., Zou, F.G., Millan, F., Person, R., Xie, Y.L., Liu, S.X., Ousager, L.B., Larsen, M., Schultz-Rogers, L., Morava, E., Klee, E.W., Berry, I.R., Campbell, J., Lindstrom, K., Pruniski, B., Neumeyer, A.M., Radley, J.A., Phornphutkul, C., Schmidt, B., Wilson, W.G., Ounap, K., Reinson, K., Pajusalu, S., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Santos-Simarro, F., Palomares-Bralo, M., Pacio-Miguez, M., Ritter, A., Bhoj, E., Tonne, E., Tveten, K., Cappuccio, G., Brunetti-Pierri, N., Rowe, L., Bunn, J., Saenz, M., Platzer, K., Mertens, M., Caluseriu, O., Nowaczyk, M.J.M., Cohn, R.D., Kannu, P., Alkhunaizi, E., Chitayat, D., Scherer, S.W., Brunner, H.G., Vissers, L.E.L.M., Kleefstra, T., Koolen, D.A., Weksberg, R.

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De novo variants in CNOT1, a central component of the CCR4-NOT complex involved in gene expression and RNA and protein stability, cause neurodevelopmental delay von Vissers, L.E.L.M., Kalvakuri, S., Boer, E. de, Geuer, S., Oud, M., Outersterp, I. van, Kwint, M., Witmond, M., Kersten, S., Polla, D.L., Weijers, D., Begtrup, A., McWalter, K., Ruiz, A., Gabau, E., Morton, J.E.V., Griffith, C., Weiss, K., Gamble, C., Bartley, J., Vernon, H.J., Brunet, K., Ruivenkamp, C., Kant, S.G., Kruszka, P., Larson, A., Afenjar, A., Villemeur, T.B. de, Nugent, K., Raymond, F.L., Venselaar, H., Demurger, F., Soler-Alfonso, C., Li, D., Bhoj, E., Hayes, I., Hamilton, N.P., Ahmad, A., Fisher, R., Born, M. van den, Willems, M., Sorlin, A., Delanne, J., Moutton, S., Christophe, P., Mau-Them, F.T., Vitobello, A., Goel, H., Massingham, L., Phornphutkul, C., Schwab, J., Keren, B., Charles, P., Vreeburg, M., Simone, L. de, Hoganson, G., Iascone, M., Milani, D., Evenepoel, L., Revencu, N., Ward, D.I., Burns, K., Krantz, I., Raible, S.E., Murrell, J.R., Wood, K., Cho, M.T., Bokhoven, H. van, Muenke, M., Kleefstra, T., Bodmer, R., Brouwer, A.P.M. de

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Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors von Alves, CAPF, Sherbini, O, D'Arco, F, Steel, D, Kurian, MA, Radio, FC, Ferrero, GB, Carli, D, Tartaglia, M, Balci, TB, Powell-Hamilton, NN, Schrier Vergano, SA, Reutter, H, Hoefele, J, Günthner, R, Roeder, ER, Littlejohn, RO, Lessel, D, Lüttgen, S, Kentros, C, Anyane-Yeboa, K, Catarino, CB, Mercimek-Andrews, S, Denecke, J, Lyons, MJ, Klopstock, T, Bhoj, EJ, Bryant, L, Vanderver, A

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Single-Cell Analyses Identify Brain Mural Cells Expressing CD19 as Potential Off-Tumor Targets for CAR-T Immunotherapies von Parker, Kevin R., Migliorini, Denis, Perkey, Eric, Yost, Kathryn E., Bhaduri, Aparna, Bagga, Puneet, Haris, Mohammad, Wilson, Neil E., Liu, Fang, Gabunia, Khatuna, Scholler, John, Montine, Thomas J., Bhoj, Vijay G., Reddy, Ravinder, Mohan, Suyash, Maillard, Ivan, Kriegstein, Arnold R., June, Carl H., Chang, Howard Y., Posey, Avery D., Satpathy, Ansuman T.

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Induction of resistance to chimeric antigen receptor T cell therapy by transduction of a single leukemic B cell von Ruella, Marco, Xu, Jun, Barrett, David M., Fraietta, Joseph A., Reich, Tyler J., Ambrose, David E., Klichinsky, Michael, Shestova, Olga, Patel, Prachi R., Kulikovskaya, Irina, Nazimuddin, Farzana, Bhoj, Vijay G., Orlando, Elena J., Fry, Terry J., Bitter, Hans, Maude, Shannon L., Levine, Bruce L., Nobles, Christopher L., Bushman, Frederic D., Young, Regina M., Scholler, John, Gill, Saar I., June, Carl H., Grupp, Stephan A., Lacey, Simon F., Melenhorst, J. Joseph

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Site specific N- and O-glycosylation mapping of the spike proteins of SARS-CoV-2 variants of concern von Shajahan, Asif, Pepi, Lauren E., Kumar, Bhoj, Murray, Nathan B., Azadi, Parastoo

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ARAF recurrent mutation causes central conducting lymphatic anomaly treatable with a MEK inhibitor von Li, Dong, March, Michael E., Gutierrez-Uzquiza, Alvaro, Kao, Charlly, Seiler, Christoph, Pinto, Erin, Matsuoka, Leticia S., Battig, Mark R., Bhoj, Elizabeth J., Wenger, Tara L., Tian, Lifeng, Robinson, Nora, Wang, Tiancheng, Liu, Yichuan, Weinstein, Brant M., Swift, Matthew, Jung, Hyun Min, Kaminski, Courtney N., Chiavacci, Rosetta, Perkins, Jonathan A., Levine, Michael A., Sleiman, Patrick M. A., Hicks, Patricia J., Strausbaugh, Janet T., Belasco, Jean B., Dori, Yoav, Hakonarson, Hakon

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Tuning the Magnetic Properties of Two-Dimensional MXenes by Chemical Etching von Allen-Perry, Kemryn, Straka, Weston, Keith, Danielle, Han, Shubo, Reynolds, Lewis, Gautam, Bhoj, Autrey, Daniel E

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Persistence of long-lived plasma cells and humoral immunity in individuals responding to CD19-directed CAR T-cell therapy von Bhoj, Vijay G., Arhontoulis, Dimitrios, Wertheim, Gerald, Capobianchi, James, Callahan, Colleen A., Ellebrecht, Christoph T., Obstfeld, Amrom E., Lacey, Simon F., Melenhorst, Jan J., Nazimuddin, Farzana, Hwang, Wei-Ting, Maude, Shannon L., Wasik, Mariusz A., Bagg, Adam, Schuster, Stephen, Feldman, Michael D., Porter, David L., Grupp, Stephen A., June, Carl H., Milone, Michael C.

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BET bromodomain protein inhibition reverses chimeric antigen receptor extinction and reinvigorates exhausted T cells in chronic lymphocytic leukemia von Kong, Weimin, Dimitri, Alexander, Wang, Wenliang, Jung, In-Young, Ott, Christopher J, Fasolino, Maria, Wang, Yan, Kulikovskaya, Irina, Gupta, Minnal, Yoder, Todd, DeNizio, Jamie E, Everett, John K, Williams, Erik F, Xu, Jun, Scholler, John, Reich, Tyler J, Bhoj, Vijay G, Haines, Kathleen M, Maus, Marcela V, Melenhorst, J. Joseph, Young, Regina M, Jadlowsky, Julie K, Marcucci, Katherine T, Bradner, James E, Levine, Bruce L, Porter, David L, Bushman, Frederic D, Kohli, Rahul M, June, Carl H, Davis, Megan M, Lacey, Simon F, Vahedi, Golnaz, Fraietta, Joseph A

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