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Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development Szafranski, Przemyslaw; Majewski, Tadeusz; Bolukbasi, Esra Yildiz; Gambin, Tomasz; Karolak, Justyna A.; Cortes-Santiago, Nahir; Bruckner, Markus; Amann, Gabriele; Weis, Denisa; Stankiewicz, Pawel Share Save
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant Bolukbasi, Esra Yildiz; Karolak, Justyna A.; Szafranski, Przemyslaw; Gambin, Tomasz; Matsika, Admire; McManus, Sam; Scott, Hamish S.; Arts, Peer; Ha, Thuong; Barnett, Christopher P.; Rodgers, Jonathan; Stankiewicz, Pawel Share Save
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Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins Karolak, Justyna A.; Liu, Qian; Xie, Nina G.; Wu, Lucia R.; Rocha, Gustavo; Fernandes, Susana; Ho-Ming, Luk; Lo, Ivan F.; Mowat, David; Fiorino, Elizabeth K.; Edelman, Morris; Fox, Joyce; Hayes, Denise A.; Witte, David; Parrott, Ashley; Popek, Edwina; Szafranski, Przemyslaw; Zhang, David Y.; Stankiewicz, Pawel Share Save
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype Szafranski, Przemyslaw; Liu, Qian; Karolak, Justyna A.; Song, Xiaofei; de Leeuw, Nicole; Faas, Brigitte; Gerychova, Romana; Janku, Petr; Jezova, Marta; Valaskova, Iveta; Gibbs, Kathleen A.; Surrey, Lea F.; Poisson, Virginie; Berube, Denis; Oligny, Luc L.; Michaud, Jacques L.; Popek, Edwina; Stankiewicz, Pawel Share Save
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Vincent, Marie; Karolak, Justyna A.; Deutsch, Gail; Gambin, Tomasz; Popek, Edwina; Isidor, Bertrand; Szafranski, Przemyslaw; Le Caignec, Cedric; Stankiewicz, Pawel Share Save
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development Steiner, Laurie A.; Getman, Michael; Schiralli Lester, Gillian M.; Iqbal, M. Anwar; Katzman, Philip; Szafranski, Przemyslaw; Stankiewicz, Pawel; Bhattacharya, Soumyaroop; Mariani, Thomas; Pryhuber, Gloria; Lin, Xin; Young, Jennifer L.; Dean, David A.; Scheible, Kristin Share Save
The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia Pradhan, Arun; Dunn, Andrew; Ustiyan, Vladimir; Bolte, Craig; Wang, Guolun; Whitsett, Jeffrey A.; Zhang, Yufang; Porollo, Alexey; Hu, Yueh-Chiang; Xiao, Rui; Szafranski, Przemyslaw; Shi, Donglu; Stankiewicz, Pawel; Kalin, Tanya, V; Kalinichenko, Vladimir V. Share Save
Novel parent-of-origin-specific differentially methylated loci on chromosome 16 Schulze, Katharina V.; Szafranski, Przemyslaw; Lesmana, Harry; Hopkin, Robert J.; Hamvas, Aaron; Wambach, Jennifer A.; Shinawi, Marwan; Zapata, Gladys; Carvalho, Claudia M. B.; Liu, Qian; Karolak, Justyna A.; Lupski, James R.; Hanchard, Neil A.; Stankiewicz, Pawel Share Save
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway Karolak, Justyna A.; Vincent, Marie; Deutsch, Gail; Gambin, Tomasz; Cogne, 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; Tumer, Zeynep; Denis-Musquer, Marie; Joubert, Madeleine; Martinovic, Jelena; Beneteau, Claire; Molin, Arnaud; Carles, Dominique; Andre, Gwenaelle; Bieth, Eric; Chassaing, Nicolas; Devisme, Louise; Chalabreysse, Lara; Pasquier, Laurent; Secq, Veronique; Don, Massimiliano; Orsaria, Maria; Missirian, Chantal; Mortreux, Jeremie; Sanlaville, Damien; Pons, Linda; Kury, Sebastien; Bezieau, Stephane; Liet, Jean-Michel; Joram, Nicolas; Bihouee, Tiphaine; Scott, Daryl A.; Brown, Chester W.; Scaglia, Fernando; Tsai, Anne Chun-Hui; Grange, Dorothy K.; Phillips, John A., III; 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; Akdemir, Zeynep H. Coban; Lupski, James R.; Szafranski, Przemyslaw; Isidor, Bertrand; Le Caignec, Cedric; Stankiewicz, Pawe Share Save
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV Szafranski, Przemyslaw; Kosmider, Ewelina; Liu, Qian; Karolak, Justyna A.; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G.; Roeder, Elizabeth; Littlejohn, Rebecca O.; DeNapoli, Thomas S.; Shardonofsky, Felix R.; Henderson, Cody; Powers, George; Poisson, Virginie; Berube, Denis; Oligny, Luc; Michaud, Jacques L.; Janssens, Sandra; De Coen, Kris; Van Dorpe, Jo; Dheedene, Annelies; Harting, Matthew T.; Weaver, Matthew D.; Khan, Amir M.; Tatevian, Nina; Wambach, Jennifer; Gibbs, Kathleen A.; Popek, Edwina; Gambin, Anna; Stankiewicz, Pawel Share Save
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation Towe, Christopher T.; White, Frances V.; Grady, R. Mark; Sweet, Stuart C.; Eghtesady, Pirooz; Wegner, Daniel J.; Sen, Partha; Szafranski, Przemyslaw; Stankiewicz, Pawel; Hamvas, Aaron; Cole, F. Sessions; Wambach, Jennifer A. Share Save
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features Stankiewicz, Pawel; Khan, Tahir N.; Szafranski, Przemyslaw; Slattery, Leah; Streff, Haley; Vetrini, Francesco; Bernstein, Jonathan A.; Brown, Chester W.; Rosenfeld, Jill A.; Rednam, Surya; Scollon, Sarah; Bergstrom, Katie L.; Parsons, Donald W.; Plon, Sharon E.; Vieira, Marta W.; Quaio, Caio R. D. C.; Baratela, Wagner A. R.; Acosta Guio, Johanna C.; Armstrong, Ruth; Mehta, Sarju G.; Rump, Patrick; Pfundt, Rolph; Lewandowski, Raymond; Fernandes, Erica M.; Shinde, Deepali N.; Tang, Sha; Hoyer, Juliane; Zweier, Christiane; Reis, Andre; Bacino, Carlos A.; Xiao, Rui; Breman, Amy M.; Smith, Janice L.; Katsanis, Nicholas; Bostwick, Bret; Popp, Bernt; Davis, Erica E.; Yang, Yaping Share Save
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features (vol 136, pg 377, 2017) Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A.; Al Balwi, Mohammed; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Al Shamsi, Aisha M.; Komara, Makanko; Ali, Bassam R.; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S.; Manchester, David K.; Magoulas, Pilar; King, Lauren E.; Hannig, Vickie; Bonneau, Dominique; Denomme-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bezieau, Stephane; Cogne, 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, Pawel Share Save
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