Somatic mosaicism: implications for disease and transmission genetics
Campbell, Ian M, Shaw, Chad A, Stankiewicz, Pawel, Lupski, James R
Published in Trends in genetics (01.07.2015)
Published in Trends in genetics (01.07.2015)
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Journal Article
Cloud-native distributed genomic pileup operations
Wiewiórka, Marek, Szmurło, Agnieszka, Stankiewicz, Paweł, Gambin, Tomasz
Published in Bioinformatics (Oxford, England) (01.01.2023)
Published in Bioinformatics (Oxford, England) (01.01.2023)
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Journal Article
Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR
Szafranski, Przemyslaw, Gambin, Tomasz, Karolak, Justyna A., Popek, Edwina, Stankiewicz, Paweł
Published in Human mutation (01.06.2021)
Published in Human mutation (01.06.2021)
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Journal Article
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, Paweł
Published in American journal of respiratory and critical care medicine (01.11.2019)
Published in American journal of respiratory and critical care medicine (01.11.2019)
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Journal Article
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, Paweł, Cheung, Sau Wai, Choy, Kwong Wai
Published in Human genetics (01.02.2021)
Published in Human genetics (01.02.2021)
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Journal Article
Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development
Karolak, Justyna A, Deutsch, Gail, Gambin, Tomasz, Szafranski, Przemyslaw, Popek, Edwina, Stankiewicz, Paweł
Published in American journal of respiratory cell and molecular biology (01.06.2022)
Published in American journal of respiratory cell and molecular biology (01.06.2022)
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Journal Article
Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics
Campbell, Ian M., Stewart, Jonathan R., James, Regis A., Lupski, James R., Stankiewicz, Paweł, Olofsson, Peter, Shaw, Chad A.
Published in American journal of human genetics (02.10.2014)
Published in American journal of human genetics (02.10.2014)
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Journal Article
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
Zemet, Roni, Du, Haowei, Gambin, Tomasz, Lupski, James R., Liu, Pengfei, Stankiewicz, Paweł
Published in Human genetics (01.06.2023)
Published in Human genetics (01.06.2023)
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Journal Article
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, Coban Akdemir, Zeynep H, 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, Paweł
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Journal Article
Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3
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
Published in Human molecular genetics (15.07.2015)
Published in Human molecular genetics (15.07.2015)
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Journal Article
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, Paweł
Published in Human genomics (20.12.2021)
Published in Human genomics (20.12.2021)
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Journal Article
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs
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
Published in American journal of medical genetics. Part A (01.09.2016)
Published in American journal of medical genetics. Part A (01.09.2016)
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Journal Article
An estimation of the prevalence of genomic disorders using chromosomal microarray data
Gillentine, Madelyn A, Lupo, Philip J, Stankiewicz, Pawel, Schaaf, Christian P
Published in Journal of human genetics (01.07.2018)
Published in Journal of human genetics (01.07.2018)
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Journal Article
Molecular Function and Contribution of TBX4 in Development and Disease
Karolak, Justyna A, Welch, Carrie L, Mosimann, Christian, Bzdęga, Katarzyna, West, James D, Montani, David, Eyries, Mélanie, Mullen, Mary P, Abman, Steven H, Prapa, Matina, Gräf, Stefan, Morrell, Nicholas W, Hemnes, Anna R, Perros, Frédéric, Hamid, Rizwan, Logan, Malcolm P O, Whitsett, Jeffrey, Galambos, Csaba, Stankiewicz, Paweł, Chung, Wendy K, Austin, Eric D
Published in American journal of respiratory and critical care medicine (01.04.2023)
Published in American journal of respiratory and critical care medicine (01.04.2023)
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Journal Article
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant
Yıldız Bölükbaşı, Esra, Karolak, Justyna A, Szafranski, Przemyslaw, Gambin, Tomasz, Matsika, Admire, McManus, Sam, Scott, Hamish S, Arts, Peer, Ha, Thuong, Barnett, Christopher P, Rodgers, Jonathan, Stankiewicz, Paweł
Published in European journal of human genetics : EJHG (01.10.2022)
Published in European journal of human genetics : EJHG (01.10.2022)
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Journal Article
SOX9 chromatin folding domains correlate with its real and putative distant cis-regulatory elements
Smyk, Marta, Akdemir, Kadir Caner, Stankiewicz, Paweł
Published in Nucleus (Austin, Tex.) (04.03.2017)
Published in Nucleus (Austin, Tex.) (04.03.2017)
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