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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage Chau, Matthew Hoi Kin; Anderson, Stephanie A.; Song, Rodger; Cooper, Lance; Ward, Patricia A.; Yuan, Bo; Shaw, Chad; Stankiewicz, Pawel; Cheung, Sau Wai; Vossaert, Liesbeth; Wang, Yue; Owen, Nichole M.; Smith, Janice; Bacino, Carlos A.; Schulze, Katharina, V; Bi, Weimin Share Save
Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids Trudler, Dorit; Ghatak, Swagata; Bula, Michael; Parker, James; Talantova, Maria; Luevanos, Melissa; Labra, Sergio; Grabauskas, Titas; Noveral, Sarah Moore; Teranaka, Mayu; Schahrer, Emily; Dolatabadi, Nima; Bakker, Clare; Lopez, Kevin; Sultan, Abdullah; Patel, Parth; Chan, Agnes; Choi, Yongwook; Kawaguchi, Riki; Stankiewicz, Pawel; Garcia-Bassets, Ivan; Kozbial, Piotr; Rosenfeld, Michael G.; Nakanishi, Nobuki; Geschwind, Daniel H.; Chan, Shing Fai; Lin, Wei; Schork, Nicholas J.; Ambasudhan, Rajesh; Lipton, Stuart A. Share Save
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Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia Guo, Minzhe; Wikenheiser-Brokamp, Kathryn A.; Kitzmiller, Joseph A.; Jiang, Cheng; Wang, Guolun; Wang, Allen; Preissl, Sebastian; Hou, Xiaomeng; Buchanan, Justin; Karolak, Justyna A.; Miao, Yifei; Frank, David B.; Zacharias, William J.; Sun, Xin; Xu, Yan; Gu, Mingxia; Stankiewicz, Pawel; Kalinichenko, Vladimir V.; Wambach, Jennifer A.; Whitsett, Jeffrey A. Share Save
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Molecular Function and Contribution of TBX4 in Development and Disease Karolak, Justyna A.; Welch, Carrie L.; Mosimann, Christian; Bzdega, Katarzyna; West, James D.; Montani, David; Eyries, Melanie; Mullen, Mary P.; Abman, Steven H.; Prapa, Matina; Graf, Stefan; Morrell, Nicholas W.; Hemnes, Anna R.; Perros, Frederic; Hamid, Rizwan; Logan, Malcolm P. O.; Whitsett, Jeffrey; Galambos, Csaba; Stankiewicz, Pawel; Chung, Wendy K.; Austin, Eric D. Share Save
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
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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
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset Domogala, Daniel D.; Gambin, Tomasz; Zemet, Roni; Wu, Chung Wah; Schulze, Katharina, V; Yang, Yaping; Wilson, Theresa A.; Machol, Ido; Liu, Pengfei; Stankiewicz, Pawel Share Save
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Latypova, Xenia; Vincent, Marie; Molle, Alice; Adebambo, Oluwadamilare A.; Fourgeux, Cynthia; Khan, Tahir N.; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L.; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J.; Bell, Shannon; Stevenson, Roger E.; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M.; Martinez, Francisco; Rosenfeld, Jill A.; Le Caignec, Cedric; Kury, Sebastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solene; Besnard, Thomas; Cogne, Benjamin; Katsanis, Nicholas; Bezieau, Stephane; Poschmann, Jeremie; Davis, Erica E.; Isidor, Bertrand Share Save
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions Gambin, Tomasz; Liu, Qian; Karolak, Justyna A.; Grochowski, Christopher M.; Xie, Nina G.; Wu, Lucia R.; Yan, Yan Helen; Cao, Ye; Akdemir, Zeynep H. Coban; Wilson, Theresa A.; Jhangiani, Shalini N.; Chen, Ed; Eng, Christine M.; Muzny, Donna; Posey, Jennifer E.; Yang, Yaping; Zhang, David Y.; Shaw, Chad; Liu, Pengfei; Lupski, James R.; Stankiewicz, Pawel Share Save
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Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings Liu, Qian; Karolak, Justyna A.; Grochowski, Christopher M.; Wilson, Theresa A.; Rosenfeld, Jill A.; Bacino, Carlos A.; Lalani, Seema R.; Patel, Ankita; Breman, Amy; Smith, Janice L.; Cheung, Sau Wai; Lupski, James R.; Bi, Weimin; Stankiewicz, Pawel Share Save
Deciphering the complexity of simple chromosomal insertions by genome sequencing Dong, Zirui; Chau, Matthew Hoi Kin; Zhang, Yanyan; Dai, Peng; Zhu, Xiaofan; Leung, Tak Yeung; Kong, Xiangdong; Kwok, Yvonne K.; Stankiewicz, Pawel; Cheung, Sau Wai; Choy, Kwong Wai Share Save
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