Structural variation in the human genome and its role in disease von Stankiewicz, Paweł, Lupski, James R

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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination von Startek, Michał, Szafranski, Przemyslaw, Gambin, Tomasz, Campbell, Ian M, Hixson, Patricia, Shaw, Chad A, Stankiewicz, Paweł, Gambin, Anna

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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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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 von Gu, Shen, Yuan, Bo, Campbell, Ian M, Beck, Christine R, Carvalho, Claudia M B, Nagamani, Sandesh C S, Erez, Ayelet, Patel, Ankita, Bacino, Carlos A, Shaw, Chad A, Stankiewicz, Paweł, Cheung, Sau Wai, Bi, Weimin, Lupski, James R

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An Organismal CNV Mutator Phenotype Restricted to Early Human Development von Liu, Pengfei, Yuan, Bo, Carvalho, Claudia M.B., Wuster, Arthur, Walter, Klaudia, Zhang, Ling, Gambin, Tomasz, Chong, Zechen, Campbell, Ian M., Coban Akdemir, Zeynep, Gelowani, Violet, Writzl, Karin, Bacino, Carlos A., Lindsay, Sarah J., Withers, Marjorie, Gonzaga-Jauregui, Claudia, Wiszniewska, Joanna, Scull, Jennifer, Stankiewicz, Paweł, Jhangiani, Shalini N., Muzny, Donna M., Zhang, Feng, Chen, Ken, Gibbs, Richard A., Rautenstrauss, Bernd, Cheung, Sau Wai, Smith, Janice, Breman, Amy, Shaw, Chad A., Patel, Ankita, Hurles, Matthew E., Lupski, James R.

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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins von Szafranski, Przemyslaw, Gambin, Tomasz, Dharmadhikari, Avinash V., Akdemir, Kadir Caner, Jhangiani, Shalini N., Schuette, Jennifer, Godiwala, Nihal, Yatsenko, Svetlana A., Sebastian, Jessica, Madan-Khetarpal, Suneeta, Surti, Urvashi, Abellar, Rosanna G., Bateman, David A., Wilson, Ashley L., Markham, Melinda H., Slamon, Jill, Santos-Simarro, Fernando, Palomares, María, Nevado, Julián, Lapunzina, Pablo, Chung, Brian Hon-Yin, Wong, Wai-Lap, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Kerem, Eitan, Reiter, Joel, Ambalavanan, Namasivayam, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret L., Hamilton, Sara Jane, Schlade-Bartusiak, Kamilla, English, Dawn, Hendson, Glenda, Roeder, Elizabeth R., DeNapoli, Thomas S., Littlejohn, Rebecca Okashah, Wolff, Daynna J., Wagner, Carol L., Yeung, Alison, Francis, David, Fiorino, Elizabeth K., Edelman, Morris, Fox, Joyce, Hayes, Denise A., Janssens, Sandra, De Baere, Elfride, Menten, Björn, Loccufier, Anne, Vanwalleghem, Lieve, Moerman, Philippe, Sznajer, Yves, Lay, Amy S., Kussmann, Jennifer L., Chawla, Jasneek, Payton, Diane J., Phillips, Gael E., Brosens, Erwin, Tibboel, Dick, de Klein, Annelies, Maystadt, Isabelle, Fisher, Richard, Sebire, Neil, Male, Alison, Chopra, Maya, Pinner, Jason, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Lees, Melissa, Mead, Zoe, Quarrell, Oliver, Sayers, Richard, Owens, Martina, Shaw-Smith, Charles, Lioy, Janet, McKay, Eileen, de Leeuw, Nicole, Feenstra, Ilse, Spruijt, Liesbeth, Elmslie, Frances, Thiruchelvam, Timothy, Bacino, Carlos A., Langston, Claire, Lupski, James R., Sen, Partha, Popek, Edwina, Stankiewicz, Paweł

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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs von Szafranski, Przemyslaw, Coban-Akdemir, Zeynep H., Rupps, Rosemarie, Grazioli, Serge, Wensley, David, Jhangiani, Shalini N., Popek, Edwina, Lee, Anna F., Lupski, James R., Boerkoel, Cornelius F., Stankiewicz, Paweł

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Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family von Reiter, Joel, Szafranski, Przemyslaw, Breuer, Oded, Perles, Zeev, Dagan, Tamir, Stankiewicz, Paweł, Kerem, Eitan

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One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion? von Stankiewicz, Paweł

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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region von Szafranski, Przemyslaw, Karolak, Justyna A., Lanza, Denise, Gajęcka, Marzena, Heaney, Jason, Stankiewicz, Paweł

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Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies? von Yıldız Bölükbaşı, Esra, Karolak, Justyna A., Gambin, Tomasz, Szafranski, Przemyslaw, Deutsch, Gail H., Stankiewicz, Paweł

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Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease von Dharmadhikari, Avinash V, Szafranski, Przemyslaw, Kalinichenko, Vladimir V, Stankiewicz, Pawel

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Genomic Disorders: The Genomic Basis of Disease von Lupski, James R, Stankiewicz, Pawel

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features von Zhang, Jing, Gambin, Tomasz, Yuan, Bo, Szafranski, Przemyslaw, Rosenfeld, Jill A., Balwi, Mohammed Al, Alswaid, Abdulrahman, Al-Gazali, Lihadh, Shamsi, Aisha M. Al, Komara, Makanko, Ali, Bassam R., Roeder, Elizabeth, McAuley, Laura, Roy, Daniel S., Manchester, David K., Magoulas, Pilar, King, Lauren E., Hannig, Vickie, Bonneau, Dominique, Denommé-Pichon, Anne-Sophie, Charif, Majida, Besnard, Thomas, Bézieau, Stéphane, Cogné, Benjamin, Andrieux, Joris, Zhu, Wenmiao, He, Weimin, Vetrini, Francesco, Ward, Patricia A., Cheung, Sau Wai, Bi, Weimin, Eng, Christine M., Lupski, James R., Yang, Yaping, Patel, Ankita, Lalani, Seema R., Xia, Fan, Stankiewicz, Paweł

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Inverted Low-Copy Repeats and Genome Instability-A Genome-Wide Analysis von Dittwald, Piotr, Gambin, Tomasz, Gonzaga-Jauregui, Claudia, Carvalho, Claudia M.B., Lupski, James R., Stankiewicz, Paweł, Gambin, Anna

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Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter von Smyk, Marta, Szafranski, Przemyslaw, Startek, Michał, Gambin, Anna, Stankiewicz, Paweł

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Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins von Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Wambach, Jennifer A., Towe, Chris T., White, Frances V., Grady, R. Mark, Eghtesady, Pirooz, Cole, F. Sessions, Deutsch, Gail, Sen, Partha, Stankiewicz, Paweł

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A de novo 1.58Mb deletion, including MAP2K6 and mapping 1.28Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures von Smyk, Marta, Roeder, Elizabeth, Cheung, Sau Wai, Szafranski, Przemyslaw, Stankiewicz, Pawe

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Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV von Szafranski, Przemyslaw, Herrera, Carmen, Proe, Lori A, Coffman, Brittany, Kearney, Debra L, Popek, Edwina, Stankiewicz, Paweł

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Novel FOXF1 Deep Intronic Deletion Causes Lethal Lung Developmental Disorder, Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins von Szafranski, Przemyslaw, Yang, Yaping, Nelson, Melissa U., Bizzarro, Matthew J., Morotti, Raffaella A., Langston, Claire, Stankiewicz, Paweł

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