USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder von Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway von Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

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Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree With Familial Dilated Cardiomyopathy von Wells, Quinn S., Becker, Jason R., Su, Yan R., Mosley, Jonathan D., Weeke, Peter, D’Aoust, Laura, Ausborn, Natalie L., Ramirez, Andrea H., Pfotenhauer, Jean P., Naftilan, Allen J., Markham, Larry, Exil, Vernat, Roden, Dan M., Hong, Charles C.

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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities von Ballif, Blake C., Theisen, Aaron, Rosenfeld, Jill A., Traylor, Ryan N., Gastier-Foster, Julie, Thrush, Devon Lamb, Astbury, Caroline, Bartholomew, Dennis, McBride, Kim L., Pyatt, Robert E., Shane, Kate, Smith, Wendy E., Banks, Valerie, Gallentine, William B., Brock, Pamela, Rudd, M. Katharine, Adam, Margaret P., Keene, Julia A., Phillips, John A., Pfotenhauer, Jean P., Gowans, Gordon C., Stankiewicz, Pawel, Bejjani, Bassem A., Shaffer, Lisa G.

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Familial Dilated Cardiomyopathy Associated with Congenital Defects in the Setting of a Novel VCL Mutation (Lys815Arg) in Conjunction with a Known MYPBC3 Variant von Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H., Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas G., Hong, Charles C.

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Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy von Pfotenhauer, Jean P., Harris, Bronwyn, Silverstein, Cheri A., Markham, Larry W., Schafer, Kim, Exil, Vernat J., Hong, Charles C.

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies von Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S., Pedersen, Robert C., Morgan, Thomas M., Pfotenhauer, Jean P., Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Krantz, Ian D., Raible, Sarah E., Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M., Person, Richard E., Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D., van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L., Taft, Ryan J., Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F., Horn, Denise, Spillmann, Rebecca C., Peña, Loren, Wierzba, Jolanta, Strom, Tim M., Parenti, Ilaria, Kaiser, Frank J., Ehmke, Nadja, Schaaf, Christian P.

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies von Fountain, Michael D, Oleson, David S, Rech, Megan E, Segebrecht, Lara, Hunter, Jill V, McCarthy, John M, Lupo, Philip J, Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A, Isidor, Bertrand, Le Caignec, Cédric, Saenz, Margarita S, Pedersen, Robert C, Morgan, Thomas M, Pfotenhauer, Jean P, Xia, Fan, Bi, Weimin, Kang, Sung Hae L, Patel, Ankita, Krantz, Ian D, Raible, Sarah E, Smith, Wendy, Cristian, Ingrid, Torti, Erin, Juusola, Jane, Millan, Francisca, Wentzensen, Ingrid M, Person, Richard E, Küry, Sébastien, Bézieau, Stéphane, Uguen, Kévin, Férec, Claude, Munnich, Arnold, van Haelst, Mieke, Lichtenbelt, Klaske D, van Gassen, Koen, Hagelstrom, Tanner, Chawla, Aditi, Perry, Denise L, Taft, Ryan J, Jones, Marilyn, Masser-Frye, Diane, Dyment, David, Venkateswaran, Sunita, Li, Chumei, Escobar, Luis F, Horn, Denise, Spillmann, Rebecca C, Peña, Loren, Wierzba, Jolanta, Strom, Tim M, Parenti, Ilaria, Kaiser, Frank J, Ehmke, Nadja, Schaaf, Christian P

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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies von Morgan, Thomas M, Pfotenhauer, Jean P

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Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening von CLAYTON, E. W, HANNIG, V. L, PFOTENHAUER, J. P, PARKER, R. A, CAMPBELL, P. W, PHILLIPS, J. A

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Teaching about cystic fibrosis carrier screening by using written and video information von CLAYTON, E. W, HANNIG, V. L, PFOTENHAUER, J. P, PARKER, R. A, CAMPBELL, P. W, PHILLIPS, J. A

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Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy von Harris, Bronwyn, Pfotenhauer, Jean P, Silverstein, Cheri A, Markham, Larry W, Schafer, Kim, Exil, Vernat J, Hong, Charles C

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Mutation update for the SATB2 gene von Zarate, Yuri A, Bosanko, Katherine A, Caffrey, Aisling R, Bernstein, Jonathan A, Martin, Donna M, Williams, Marc S, Berry-Kravis, Elizabeth M, Mark, Paul R, Manning, Melanie A, Bhambhani, Vikas, Vargas, Marcelo, Seeley, Andrea H, Estrada-Veras, Juvianee, vanDooren, Marieke F, Schwab, Maria, Vanderver, Adeline, Melis, Daniela, Alsadah, Adnan, Sadler, Laurie, Van Esch, Hilde, Callewaert, Bert, Oostra, Ann, Maclean, Jane, Dentici, Maria Lisa, Orlando, Valeria, Lipson, Mark, Sparagana, Steven P, Maarup, Timothy J, Alsters, Suzanne I.M, Brautbar, Ariel, Kovitch, Eliana, Naidu, Sakkubai, Lees, Melissa, Smith, Douglas M, Turner, Lesley, Raggio, Victor, Spangenberg, Lucia, Garcia-Minaur, Sixto, Roeder, Elizabeth R, Littlejohn, Rebecca O, Grange, Dorothy, Pfotenhauer, Jean, Jones, Marilyn C, Balasubramanian, Meena, Martinez-Monseny, Antonio, Blok, Lot Snijders, Gavrilova, Ralitza, Fish, Jennifer L

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Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats von Stankiewicz, Paweł, Kulkarni, Shashikant, Dharmadhikari, Avinash V., Sampath, Srirangan, Bhatt, Samarth S., Shaikh, Tamim H., Xia, Zhilian, Pursley, Amber N., Cooper, M. Lance, Shinawi, Marwan, Paciorkowski, Alex R., Grange, Dorothy K., Noetzel, Michael J., Saunders, Scott, Simons, Paul, Summar, Marshall, Lee, Brendan, Scaglia, Fernando, Fellmann, Florence, Martinet, Danielle, Beckmann, Jacques S., Asamoah, Alexander, Platky, Kathryn, Sparks, Susan, Martin, Ann S., Madan-Khetarpal, Suneeta, Hoover, Jacqueline, Medne, Livija, Bonnemann, Carsten G., Moeschler, John B., Vallee, Stephanie E., Parikh, Sumit, Irwin, Polly, Dalzell, Victoria P., Smith, Wendy E., Banks, Valerie C., Flannery, David B., Lovell, Carolyn M., Bellus, Gary A., Golden-Grant, Kathryn, Gorski, Jerome L., Kussmann, Jennifer L., McGregor, Tracy L., Hamid, Rizwan, Pfotenhauer, Jean, Ballif, Blake C., Shaw, Chad A., Kang, Sung-Hae L., Bacino, Carlos A., Patel, Ankita, Rosenfeld, Jill A., Cheung, Sau Wai, Shaffer, Lisa G.

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The ESS elliptical cavity cryomodules von Darve, Christine, Bosland, Pierre, Devanz Guillaume, Olivier, Gilles, Renard, Bertrand, Jean-Pierre, Thermeau

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The ESS spoke cavity cryomodules von Bousson Sebastien, Darve, Christine, Duthil Patxi, Elias, Nuno, Molloy, Steve, Reynet Denis, Jean-Pierre, Thermeau

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Cryogenic system for the MYRRHA superconducting linear accelerator von Chevalier, Nicolas R, Junquera Tomas, Jean-Pierre, Thermeau, Romão Luis Medeiros, Vandeplassche Dirk

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Low temperature high frequency coaxial pulse tube for space application von Charrier Aurelia, Charles, Ivan, Rousset, Bernard, Duval, Jean-Marc, Christophe, Daniel

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Cryogenic systems for proof of the principle experiment of coherent electron cooling at RHIC von Huang Yuenian, Belomestnykh Sergey, Brutus, Jean Clifford, Lederle Dewey, Orfin, Paul, Skaritka, John, Soria, Victor, Tallerico, Thomas, Than, Roberto

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20 K COAXIAL PULSE TUBE USING PASSIVE PRECOOLING von Charles, I, Golanski, L, Gauthier, A, Coynel, A, Duval, J M

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