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ArticlesPeer ReviewedFull Text
Revised time estimation of the ancestral human chromosome 2 fusion
Author / Creator:Poszewiecka, Barbara ; Gogolewski, Krzysztof ; Stankiewicz, Paweł ; Gambin, Anna
Publisher:London: BioMed Central
Journal title:BMC genomics, 2022-08, Vol.23 (S6), p.1-616, Article 616
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A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region
Author / Creator:Szafranski, Przemyslaw ; Stankiewicz, Paweł
Publisher:Switzerland: MDPI AG
Journal title:Non-coding RNA, 2023-10, Vol.9 (5), p.61
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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
Author / Creator:Poszewiecka, Barbara ; Gogolewski, Krzysztof ; Karolak, Justyna A. ; Stankiewicz, Paweł ; Gambin, Anna
Publisher:London: BioMed Central Ltd
Journal title:Genome Biology, 2023-09, Vol.24 (1), p.205-205, Article 205
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Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq
Author / Creator:Karolak, Justyna A. ; Gambin, Tomasz ; Szafranski, Przemyslaw ; Stankiewicz, Paweł
Publisher:England: BioMed Central Ltd
Journal title:Respiratory research, 2021-01, Vol.22 (1), p.26-26, Article 26
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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency
Author / Creator:Karolak, Justyna A. ; Gambin, Tomasz ; Szafranski, Przemyslaw ; Maywald, Rebecca L. ; Popek, Edwina ; Heaney, Jason D. ; Stankiewicz, Paweł
Publisher:England: BioMed Central Ltd
Journal title:Respiratory research, 2021-07, Vol.22 (1), p.212-212, Article 212
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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
Author / Creator:Karolak, Justyna A. ; Gambin, Tomasz ; Honey, Engela M. ; Slavik, Tomas ; Popek, Edwina ; Stankiewicz, Paweł
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genomics, 2020-03, Vol.13 (1), p.34-8, Article 34
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Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia
Author / Creator:Szafranski, Przemyslaw ; Garimella, Rijutha P. ; Mani, Haresh ; Hartman, Ryan ; Deutsch, Gail ; Silk, Alan ; Benheim, Alan ; Stankiewicz, Paweł
Publisher:Germany: BioMed Central Ltd
Journal title:Clinical epigenetics, 2023-10, Vol.15 (1), p.169-169, Article 169
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Mechanisms for Complex Chromosomal Insertions
Author / Creator:Gu, Shen ; Szafranski, Przemyslaw ; Akdemir, Zeynep Coban ; Yuan, Bo ; Cooper, Mitchell L. ; Magriñá, Maria A. ; Bacino, Carlos A. ; Lalani, Seema R. ; Breman, Amy M. ; Smith, Janice L. ; Patel, Ankita ; Song, Rodger H. ; Bi, Weimin ; Cheung, Sau Wai ; Carvalho, Claudia M. B. ; Stankiewicz, Paweł ; Lupski, James R.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-11, Vol.12 (11), p.e1006446
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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region
Author / Creator:Szafranski, Przemyslaw ; Karolak, Justyna A. ; Lanza, Denise ; Gajęcka, Marzena ; Heaney, Jason ; Stankiewicz, Paweł
Publisher:New York: Springer US
Journal title:Mammalian genome, 2017-08, Vol.28 (7-8), p.275-282
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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features
Author / Creator:Zhang, Jing ; Gambin, Tomasz ; Yuan, Bo ; Szafranski, Przemyslaw ; Rosenfeld, Jill A. ; Balwi, Mohammed Al ; Alswaid, Abdulrahman ; Al-Gazali, Lihadh ; Shamsi, Aisha M. Al ; Komara, Makanko ; Ali, Bassam R. ; Roeder, Elizabeth ; McAuley, Laura ; Roy, Daniel S. ; Manchester, David K. ; Magoulas, Pilar ; King, Lauren E. ; Hannig, Vickie ; Bonneau, Dominique ; Denommé-Pichon, Anne-Sophie ; Charif, Majida ; Besnard, Thomas ; Bézieau, Stéphane ; Cogné, 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, Paweł
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2017-04, Vol.136 (4), p.377-386
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Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy
Author / Creator:Campbell, Ian M. ; Rao, Mitchell ; Arredondo, Sean D. ; Lalani, Seema R. ; Xia, Zhilian ; Kang, Sung-Hae L. ; Bi, Weimin ; Breman, Amy M. ; Smith, Janice L. ; Bacino, Carlos A. ; Beaudet, Arthur L. ; Patel, Ankita ; Cheung, Sau Wai ; Lupski, James R. ; Stankiewicz, Paweł ; Ramocki, Melissa B. ; Shaw, Chad A.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2013-09, Vol.9 (9), p.e1003797-e1003797
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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
Author / Creator:Yıldız Bölükbaşı, Esra ; Karolak, Justyna A. ; Szafranski, Przemyslaw ; Gambin, Tomasz ; Willard, Nicholas ; Abman, Steven H. ; Galambos, Csaba ; Kinsella, John P. ; Stankiewicz, Paweł
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2062-n/a
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females
Author / Creator:Bartnik, Magdalena ; Derwińska, Katarzyna ; Gos, Monika ; Obersztyn, Ewa ; Kołodziejska, Katarzyna E. ; Erez, Ayelet ; Szpecht-Potocka, Agnieszka ; Fang, Ping ; Terczyńska, Iwona ; Mierzewska, Hanna ; Lohr, Naomi J. ; Bellus, Gary A. ; Reimschisel, Tyler ; Bocian, Ewa ; Mazurczak, Tadeusz ; Cheung, Sau Wai ; Stankiewicz, Paweł
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2011-05, Vol.13 (5), p.447-452
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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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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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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:England: Nature Publishing Group
Journal title:Journal of human genetics, 2018-07, Vol.63 (7), p.795-801
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Showing 1 to 20 of 118 results

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Revised time estimation of the ancestral human chromosome 2 fusion

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A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region

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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

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Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

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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

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Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

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Mechanisms for Complex Chromosomal Insertions

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CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region

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Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

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Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy

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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

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

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

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

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