A Small De Novo CNV Deletion of the Paternal Copy of <i>FOXF1</i>, Leaving lncRNA <i>FENDRR</i> Intact, Provides Insight into Their Bidirectional Promoter Region by Przemyslaw Szafranski, Paweł Stankiewicz

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Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. by James R Lupski, Pawel Stankiewicz

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Revised time estimation of the ancestral human chromosome 2 fusion by Barbara Poszewiecka, Krzysztof Gogolewski, Paweł Stankiewicz, Anna Gambin

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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution by Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A. Karolak, Paweł Stankiewicz, Anna Gambin

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A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report... by Justyna A. Karolak, Tomasz Gambin, Engela M. Honey, Tomas Slavik, Edwina Popek, Paweł Stankiewicz

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Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia by Przemyslaw Szafranski, Rijutha P. Garimella, Haresh Mani, Ryan Hartman, Gail Deutsch, Alan Silk, Alan Benheim, Paweł Stankiewicz

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High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV by Esra Yıldız Bölükbaşı, Justyna A. Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H. Abman, Csaba Galambos, John P. Kinsella, Paweł Stankiewicz

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Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development by Przemyslaw Szafranski, Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A. Karolak, Nahir Cortes-Santiago, Markus Bruckner, Gabriele Amann, Denisa Weis, Paweł Stankiewicz

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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset by Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu, Paweł Stankiewicz

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Population bottlenecks as a potential major shaping force of human genome architecture. by Adrian Gherman, Peter E Chen, Tanya M Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, Aravinda Chakravarti, James R Lupski, David J Cutler, Nicholas Katsanis

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Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia by Zuzanna Kozłowska, Zuzanna Owsiańska, Joanna P. Wroblewska, Apolonia Kałużna, Andrzej Marszałek, Yogen Singh, Bartłomiej Mroziński, Qian Liu, Justyna A. Karolak, Paweł Stankiewicz, Gail Deutsch, Marta Szymankiewicz-Bręborowicz, Tomasz Szczapa

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P593: Detection of single-gene copy-number variations through high-resolution exon-targeted chromosomal microarray analysis by Matthew Hoi Kin Chau, Stephanie Anderson, Rodger Song, Lance Cooper, Patricia Ward, Bo Yuan, Pawel Stankiewicz, Sau Cheung, Liesbeth Vossaert, Yue Wang, Nichole Owen, Janice Smith, Carlos Bacino, Katharina Schulze, Weimin Bi

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Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression by Avinash V. Dharmadhikari, Jenny J. Sun, Krzysztof Gogolewski, Brandi L. Carofino, Vladimir Ustiyan, Misty Hill, Tadeusz Majewski, Przemyslaw Szafranski, Monica J. Justice, Russell S. Ray, Mary E. Dickinson, Vladimir V. Kalinichenko, Anna Gambin, Paweł Stankiewicz

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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome by Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases by Avinash V. Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E. Posey, Allen H. Jiang, Weimin He, Francesco Vetrini, Alicia A. Braxton, Patricia Ward, Theodore Chiang, Chunjing Qu, Shen Gu, Chad A. Shaw, Janice L. Smith, Seema Lalani, Pawel Stankiewicz, Sau-Wai Cheung, Carlos A. Bacino, Ankita Patel, Amy M. Breman, Xia Wang, Linyan Meng, Rui Xiao, Fan Xia, Donna Muzny, Richard A. Gibbs, Arthur L. Beaudet, Christine M. Eng, James R. Lupski, Yaping Yang, Weimin Bi

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Identification of novel candidate disease genes from de novo exonic copy number variants by Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A. Rosenfeld, Zeynep Coban-Akdemir, Amber N. Pursley, Sandesh C. S. Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G. Petrie, Reuben Matalon, Lisa Emrick, Monica B. Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R. Roeder, Kimberly M. Nugent, Patricia I. Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E. Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P. Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L. Kang, Seema R. Lalani, Carlos A. Bacino, Arthur L. Beaudet, Amy M. Breman, Janice L. Smith, Sau Wai Cheung, James R. Lupski, Ankita Patel, Chad A. Shaw, Paweł Stankiewicz

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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders by Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler

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