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

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Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination by 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 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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Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3 by 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 by 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 by 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 by 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 by 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? by Stankiewicz, Paweł

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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region by 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? by 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 by Dharmadhikari, Avinash V, Szafranski, Przemyslaw, Kalinichenko, Vladimir V, 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 by 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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Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter by 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 by 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 by 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 by Szafranski, Przemyslaw, Herrera, Carmen, Proe, Lori A, Coffman, Brittany, Kearney, Debra L, Popek, Edwina, Stankiewicz, Paweł

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Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders by Bartnik, Magdalena, Szczepanik, Elżbieta, Derwińska, Katarzyna, Wiśniowiecka-Kowalnik, Barbara, Gambin, Tomasz, Sykulski, Maciej, Ziemkiewicz, Kamila, Kędzior, Marta, Gos, Monika, Hoffman-Zacharska, Dorota, Mazurczak, Tomasz, Jeziorek, Anetta, Antczak-Marach, Dorota, Rudzka-Dybała, Mariola, Mazurkiewicz, Hanna, Goszczańska-Ciuchta, Alicja, Zalewska-Miszkurka, Zofia, Terczyńska, Iwona, Sobierajewicz, Małgorzata, Shaw, Chad A., Gambin, Anna, Mierzewska, Hanna, Mazurczak, Tadeusz, Obersztyn, Ewa, Bocian, Ewa, Stankiewicz, Paweł

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SOX9cre1, a cis-acting regulatory element located 1.1 Mb upstream of SOX9, mediates its enhancement through the SHH pathway by Bien-Willner, Gabriel A., Stankiewicz, Paweł, Lupski, James R.

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De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder by Küry, Sébastien, Besnard, Thomas, Ebstein, Frédéric, Khan, Tahir N., Gambin, Tomasz, Douglas, Jessica, Bacino, Carlos A., Craigen, William J., Sanders, Stephan J., Lehmann, Andrea, Latypova, Xénia, Khan, Kamal, Pacault, Mathilde, Sacharow, Stephanie, Glaser, Kimberly, Bieth, Eric, Perrin-Sabourin, Laurence, Jacquemont, Marie-Line, Cho, Megan T., Roeder, Elizabeth, Denommé-Pichon, Anne-Sophie, Monaghan, Kristin G., Yuan, Bo, Xia, Fan, Simon, Sylvain, Bonneau, Dominique, Parent, Philippe, Gilbert-Dussardier, Brigitte, Odent, Sylvie, Toutain, Annick, Pasquier, Laurent, Barbouth, Deborah, Shaw, Chad A., Patel, Ankita, Smith, Janice L., Bi, Weimin, Schmitt, Sébastien, Deb, Wallid, Nizon, Mathilde, Mercier, Sandra, Vincent, Marie, Rooryck, Caroline, Malan, Valérie, Briceño, Ignacio, Gómez, Alberto, Nugent, Kimberly M., Gibson, James B., Cogné, Benjamin, Lupski, James R., Stessman, Holly A.F., Eichler, Evan E., Retterer, Kyle, Yang, Yaping, Redon, Richard, Katsanis, Nicholas, Rosenfeld, Jill A., Kloetzel, Peter-Michael, Golzio, Christelle, Bézieau, Stéphane, Stankiewicz, Paweł, Isidor, Bertrand

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