Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

Por Dharmadhikari, Avinash V., Szafranski, Przemyslaw, Kalinichenko, Vladimir V., Stankiewicz, Pawel
Publicado no Curr Genomics (2015)

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Por 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, Pawel
Publicado em 2014

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

Por Dharmadhikari, Avinash V., Sun, Jenny J., Gogolewski, Krzysztof, Carofino, Brandi L., Ustiyan, Vladimir, Hill, Misty, Majewski, Tadeusz, Szafranski, Przemyslaw, Justice, Monica J., Ray, Russell S., Dickinson, Mary E., Kalinichenko, Vladimir V., Gambin, Anna, Stankiewicz, Paweł
Publicado no Biol Open (2016)

Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice

Por Sen, Partha, Dharmadhikari, Avinash V., Majewski, Tadeusz, Mohammad, Mahmoud A., Kalin, Tanya V., Zabielska, Joanna, Ren, Xiaomeng, Bray, Molly, Brown, Hannah M., Welty, Stephen, Thevananther, Sundararajah, Langston, Claire, Szafranski, Przemyslaw, Justice, Monica J., Kalinichenko, Vladimir V., Gambin, Anna, Belmont, John, Stankiewicz, Pawel
Publicado em 2014

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

Por Dharmadhikari, Avinash V, Gambin, Tomasz, Szafranski, Przemyslaw, Cao, Wenjian, Probst, Frank J, Jin, Weihong, Fang, Ping, Gogolewski, Krzysztof, Gambin, Anna, George-Abraham, Jaya K, Golla, Sailaja, Boidein, Francoise, Duban-Bedu, Benedicte, Delobel, Bruno, Andrieux, Joris, Becker, Kerstin, Holinski-Feder, Elke, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado no BMC Med Genet (2014)

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

Por Dharmadhikari, Avinash V., Kang, Sung-Hae L., Szafranski, Przemyslaw, Person, Richard E., Sampath, Srirangan, Prakash, Siddharth K., Bader, Patricia I., Phillips, John A., Hannig, Vickie, Williams, Misti, Vinson, Sherry S., Wilfong, Angus A., Reimschisel, Tyler E., Craigen, William J., Patel, Ankita, Bi, Weimin, Lupski, James R., Belmont, John, Cheung, Sau Wai, Stankiewicz, Pawel
Publicado em 2012

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Por Szafranski, Przemyslaw, Dharmadhikari, Avinash V., Brosens, Erwin, Gurha, Priyatansh, Kołodziejska, Katarzyna E., Zhishuo, Ou, Dittwald, Piotr, Majewski, Tadeusz, Mohan, K. Naga, Chen, Bo, Person, Richard E., Tibboel, Dick, de Klein, Annelies, Pinner, Jason, Chopra, Maya, Malcolm, Girvan, Peters, Gregory, Arbuckle, Susan, Guiang, Sixto F., Hustead, Virginia A., Jessurun, Jose, Hirsch, Russel, Witte, David P., Maystadt, Isabelle, Sebire, Neil, Fisher, Richard, Langston, Claire, Sen, Partha, Stankiewicz, Paweł
Publicado em 2013

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements

Por Liu, Pengfei, Erez, Ayelet, Sreenath Nagamani, Sandesh C., Dhar, Shweta U., Kołodziejska, Katarzyna E., Dharmadhikari, Avinash V., Cooper, M. Lance, Wiszniewska, Joanna, Zhang, Feng, Withers, Marjorie A., Bacino, Carlos A., Campos-Acevedo, Luis Daniel, Delgado, Mauricio R., Freedenberg, Debra, Garnica, Adolfo, Grebe, Theresa A., Hernández-Almaguer, Dolores, Immken, LaDonna, Lalani, Seema R., McLean, Scott D., Northrup, Hope, Scaglia, Fernando, Strathearn, Lane, Trapane, Pamela, Kang, Sung-Hae L., Patel, Ankita, Cheung, Sau Wai, Hastings, P. J., Stankiewicz, Paweł, Lupski, James R., Bi, Weimin
Publicado em 2011

Recurrent Deletions and Reciprocal Duplications of 10q11.21q11.23 Including CHAT and SLC18A3 are Likely Mediated by Complex Low-Copy Repeats

Por 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.
Publicado em 2011

Novel FOXF1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Por Sen, Partha, Yang, Yaping, Navarro, Colby, Silva, Iris, Szafranski, Przemyslaw, Kolodziejska, Katarzyna E., Dharmadhikari, Avinash V., Mostafa, Hasnaa, Kozakewich, Harry, Kearney, Debra, Cahill, John B., Whitt, Merrissa, Bilic, Masha, Margraf, Linda, Charles, Adrian, Goldblatt, Jack, Gibson, Kathleen, Lantz, Patrick, Garvin, Julian, Petty, John, Kiblawi, Zeina, Zuppan, Craig, McConkie-Rosell, Allyn, McDonald, Marie T., Peterson-Carmichael, Stacey L., Gaede, Jane T., Shivanna, Binoy, Schady, Deborah, Friedlich, Philippe S., Hays, Stephen R., Palafoll, Irene Valenzuela, Siebers-Renelt, Ulrike, Bohring, Axel, Finn, Laura S., Siebert, Joseph R., Galambos, Csaba, Nguyen, Lananh, Riley, Melissa, Chassaing, Nicolas, Vigouroux, Adeline, Rocha, Gustavo, Fernandes, Susana, Brumbaugh, Jane, Roberts, Kari, Ho-ming, Luk, Lo, Ivan, Lam, Stephen, Gerychova, Romana, Jezova, Marta, Valaskova, Iveta, Fellmann, Florence, Afshar, Katayoun, Giannoni, Eric, Muhlethaler, Vincent, Liang, Jinlong, Beckmann, Jacques S., Lioy, Janet, Deshmukh, Hitesh, Srinivasan, Lakshmi, Swarr, Daniel T., Sloman, Melissa, Shaw-Smith, Charles, van Loon, Rosa Laura, Hagman, Cecilia, Sznajer, Yves, Barrea, Catherine, Galant, Christine, Detaille, Thierry, Wambach, Jennifer A., Cole, F. Sessions, Hamvas, Aaron, Prince, Lawrence S., Diderich, Karin E.M., Brooks, Alice S., Verdijk, Rob M., Ravindranathan, Hari, Sugo, Ella, Mowat, David, Baker, Michael L., Langston, Claire, Welty, Stephen, Stankiewicz, Pawel
Publicado em 2013

Pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Por 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, Hon-Yin, Brian Chung, Wai-Lap, Wong, Chu, Yoyo Wing Yiu, Mok, Gary Tsz Kin, Eitan, Kerem, Reiter, Joel, Ambalavanan, Namasivayam, Anderson, Scott A., Kelly, David R., Shieh, Joseph, Rosenthal, Taryn C., Scheible, Kristin, Steiner, Laurie, Iqbal, M. Anwar, McKinnon, Margaret, 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, Bjorn, Loccufier, Anne, Van Walleghem, 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
Publicado no Hum Genet (2016)