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118 results for Stankiewicz,+Pawel

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Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance
Author / Creator:Szafranski, Przemyslaw ; Stankiewicz, Paweł
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2021-01, Vol.12 (2), p.177
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Deciphering the complexity of simple chromosomal insertions by genome sequencing
Author / Creator: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
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2021-02, Vol.140 (2), p.361-380
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
Author / Creator:Zemet, Roni ; Du, Haowei ; Gambin, Tomasz ; Lupski, James R. ; Liu, Pengfei ; Stankiewicz, Paweł
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-06, Vol.142 (6), p.721-733
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Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes
Author / Creator:Lupski, James R ; Stankiewicz, Pawel
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2005-12, Vol.1 (6), p.e49-e49
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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
Author / Creator: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
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2020-11, Vol.22 (11), p.1768-1776
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An estimation of the prevalence of genomic disorders using chromosomal microarray data
Author / Creator:Gillentine, Madelyn A ; Lupo, Philip J ; Stankiewicz, Pawel ; Schaaf, Christian P
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2018-07, Vol.63 (7), p.795-801
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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset
Author / Creator:Domogala, Daniel D. ; Gambin, Tomasz ; Zemet, Roni ; Wu, Chung Wah ; Schulze, Katharina V. ; Yang, Yaping ; Wilson, Theresa A. ; Machol, Ido ; Liu, Pengfei ; Stankiewicz, Paweł
Publisher:England: BioMed Central
Journal title:Human genomics, 2021-12, Vol.15 (1), p.72-72, Article 72
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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing
Author / Creator:Cao, Ye ; Tokita, Mari J. ; Chen, Edward S. ; Ghosh, Rajarshi ; Chen, Tiansheng ; Feng, Yanming ; Gorman, Elizabeth ; Gibellini, Federica ; Ward, Patricia A. ; Braxton, Alicia ; Wang, Xia ; Meng, Linyan ; Xiao, Rui ; Bi, Weimin ; Xia, Fan ; Eng, Christine M. ; Yang, Yaping ; Gambin, Tomasz ; Shaw, Chad ; Liu, Pengfei ; Stankiewicz, Pawel
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2019-07, Vol.11 (1), p.48-48, Article 48
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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
Author / Creator: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
Publisher:Leiden: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-10, Vol.30 (10), p.1182-1186
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Assessing structural variation in a personal genome—towards a human reference diploid genome
Author / Creator:English, Adam C ; Salerno, William J ; Hampton, Oliver A ; Gonzaga-Jauregui, Claudia ; Ambreth, Shruthi ; Ritter, Deborah I ; Beck, Christine R ; Davis, Caleb F ; Dahdouli, Mahmoud ; Ma, Singer ; Carroll, Andrew ; Veeraraghavan, Narayanan ; Bruestle, Jeremy ; Drees, Becky ; Hastie, Alex ; Lam, Ernest T ; White, Simon ; Mishra, Pamela ; Wang, Min ; Han, Yi ; Zhang, Feng ; Stankiewicz, Pawel ; Wheeler, David A ; Reid, Jeffrey G ; Muzny, Donna M ; Rogers, Jeffrey ; Sabo, Aniko ; Worley, Kim C ; Lupski, James R ; Boerwinkle, Eric ; Gibbs, Richard A
Publisher:England: BioMed Central Ltd
Journal title:BMC genomics, 2015-04, Vol.16 (1), p.286-286, Article 286
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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
Author / Creator: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 ; Bérubé, Denis ; Oligny, Luc L. ; Michaud, Jacques L. ; Popek, Edwina ; Stankiewicz, Paweł
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2019-12, Vol.138 (11-12), p.1301-1311
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Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia
Author / Creator:Kozłowska, Zuzanna ; Owsiańska, Zuzanna ; Wroblewska, Joanna P. ; Kałużna, Apolonia ; Marszałek, Andrzej ; Singh, Yogen ; Mroziński, Bartłomiej ; Liu, Qian ; Karolak, Justyna A. ; Stankiewicz, Paweł ; Deutsch, Gail ; Szymankiewicz-Bręborowicz, Marta ; Szczapa, Tomasz
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2020-06, Vol.20 (1), p.320-320, Article 320
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ArticlesPeer ReviewedFull Text
6q22.1 microdeletion and susceptibility to pediatric epilepsy
Author / Creator:Szafranski, Przemyslaw ; Von Allmen, Gretchen K ; Graham, Brett H ; Wilfong, Angus A ; Kang, Sung-Hae L ; Ferreira, Jose A ; Upton, Sheila J ; Moeschler, John B ; Bi, Weimin ; Rosenfeld, Jill A ; Shaffer, Lisa G ; Wai Cheung, Sau ; Stankiewicz, Paweł ; Lalani, Seema R
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (2), p.173-179
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Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination
Author / Creator:Campbell, Ian M ; Gambin, Tomasz ; Dittwald, Piotr ; Beck, Christine R ; Shuvarikov, Andrey ; Hixson, Patricia ; Patel, Ankita ; Gambin, Anna ; Shaw, Chad A ; Rosenfeld, Jill A ; Stankiewicz, Paweł
Publisher:England: BioMed Central Ltd
Journal title:BMC biology, 2014-09, Vol.12 (1), p.74-74, Article 74
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One pedigree we all may have come from – did Adam and Eve have the chromosome 2 fusion?
Author / Creator:Stankiewicz, Paweł
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2016-09, Vol.9 (1), p.72-72, Article 72
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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications
Author / Creator:Szafranski, Przemyslaw ; Golla, Sailaja ; Jin, Weihong ; Fang, Ping ; Hixson, Patricia ; Matalon, Reuben ; Kinney, Daniel ; Bock, Hans-georg ; Craigen, William ; Smith, Janice L ; Bi, Weimin ; Patel, Ankita ; Wai Cheung, Sau ; Bacino, Carlos A ; Stankiewicz, Paweł
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.915-921
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Novel parent-of-origin-specific differentially methylated loci on chromosome 16
Author / Creator: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, Paweł
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2019-04, Vol.11 (1), p.60-60, Article 60
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Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis
Author / Creator:Bzdęga, Katarzyna ; Kutkowska-Kaźmierczak, Anna ; Deutsch, Gail H. ; Plaskota, Izabela ; Smyk, Marta ; Niemiec, Magdalena ; Barczyk, Artur ; Obersztyn, Ewa ; Modzelewski, Jan ; Lipska, Iwona ; Stankiewicz, Paweł ; Gajecka, Marzena ; Rydzanicz, Małgorzata ; Płoski, Rafał ; Szczapa, Tomasz ; Karolak, Justyna A.
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-02, Vol.14 (3), p.563
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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Author / Creator:Schaaf, Christian P ; Boone, Philip M ; Sampath, Srirangan ; Williams, Charles ; Bader, Patricia I ; Mueller, Jennifer M ; Shchelochkov, Oleg A ; Brown, Chester W ; Crawford, Heather P ; Phalen, James A ; Tartaglia, Nicole R ; Evans, Patricia ; Campbell, William M ; Chun-Hui Tsai, Anne ; Parsley, Lea ; Grayson, Stephanie W ; Scheuerle, Angela ; Luzzi, Carol D ; Thomas, Sandra K ; Eng, Patricia A ; Kang, Sung-Hae L ; Patel, Ankita ; Stankiewicz, Pawel ; Cheung, Sau W
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2012-12, Vol.20 (12), p.1240-1247
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ArticlesPeer ReviewedFull Text
Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
Author / Creator:Smyk, Marta ; Szafranski, Przemyslaw ; Startek, Michał ; Gambin, Anna ; Stankiewicz, Paweł
Publisher:Dordrecht: Springer-Verlag
Journal title:Chromosome research, 2013-12, Vol.21 (8), p.781-788
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Showing 1 to 20 of 118 results

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Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance

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Deciphering the complexity of simple chromosomal insertions by genome sequencing

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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

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Genomic Disorders: Molecular Mechanisms for Rearrangements and Conveyed Phenotypes

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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

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An estimation of the prevalence of genomic disorders using chromosomal microarray data

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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

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A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

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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

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Assessing structural variation in a personal genome—towards a human reference diploid genome

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Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

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Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia

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6q22.1 microdeletion and susceptibility to pediatric epilepsy

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Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination

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One pedigree we all may have come from – did Adam and Eve have the chromosome 2 fusion?

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Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

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Novel parent-of-origin-specific differentially methylated loci on chromosome 16

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Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions

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Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter

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