Search Results - Pfotenhauer, Jean P.

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

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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 by Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.

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Whole Exome Sequencing Identifies a Causal RBM20 Mutation in a Large Pedigree with Familial Dilated Cardiomyopathy by 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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USP7 acts as a molecular rheostat to promote WASH-dependent endosomal protein recycling and is mutated in a human neurodevelopmental disorder by Hao, Yi-Heng, Fountain, Michael D., Tacer, Klementina Fon, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Caignec, Cédric Le, 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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Identification of a Recurrent Microdeletion at 17q23.1q23.2 Flanked by Segmental Duplications Associated with Heart Defects and Limb Abnormalities by 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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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies by 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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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by 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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