Przemyslaw Szafranski (Pawel Stankiewicz, Jing Zhang, Pawe Ç Stankiewicz, Paweł Stankiewicz)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2023
Publications (10 Years): 29

Top Venues

American journal of medical genetics. Part A

Human genetics

Clinical epigenetics

Human mutation

This page only lists publications with an associated author ORCID identifier.

Publications

Przemyslaw Szafranski, Przemyslaw Szafranski
A Small De Novo CNV Deletion of the Paternal Copy of FOXF1 , Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region. Non-coding RNA 9 (5) (2023)
Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A Karolak, Przemyslaw Szafranski, Anna Gambin
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. Genome biology 24 (1) (2023)
Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Przemyslaw Szafranski
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. Human genetics (2023)
Roni Zemet, Haowei Du, Tomasz Gambin, Pengfei Liu, James R Lupski, Przemyslaw Szafranski
SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia. Research square (2023)
Csaba Galambos, J Wells Logan, Przemyslaw Szafranski, Przemyslaw Szafranski, Carola Zalles, Jose Gonzales, Sfurti Nath, Shalinkumar Patel, Steven H Abman
Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia. Pediatric pulmonology (2023)
Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Admire Matsika, Sam McManus, Hamish S Scott, Peer Arts, Thuong Ha, Christopher P Barnett, Jonathan Rodgers, Przemyslaw Szafranski
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. European journal of human genetics : EJHG 30 (10) (2022)
Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Omer Murik, David A Zeevi, Gheona Altarescu, Przemyslaw Szafranski
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. American journal of medical genetics. Part A 188 (5) (2022)
Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H Abman, Csaba Galambos, John P Kinsella, Przemyslaw Szafranski
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. Molecular genetics & genomic medicine 10 (11) (2022)
Justyna A Karolak, Gail Deutsch, Tomasz Gambin, Przemyslaw Szafranski, Edwina Popek, Paweł Stankiewicz
Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development. American journal of respiratory cell and molecular biology 66 (6) (2022)
Barbara Poszewiecka, Krzysztof Gogolewski, Przemyslaw Szafranski, Anna Gambin
Revised time estimation of the ancestral human chromosome 2 fusion. BMC genomics 23 (Suppl 6) (2022)
Roni Zemet, Ignatia B Van den Veyver, Przemyslaw Szafranski
Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges. Prenatal diagnosis 42 (7) (2022)
Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, Dusit Adstamongkonkul, Oskar Schnappauf, David B Beck, Carole Brewer, Aditi Shah Parikh, Deepali N Shinde, Alan Donaldson, Ariel Brautbar, Saskia Koene, Arie van Haeringen, Amélie Piton, Yline Capri, Margherita Furlan, Elena Gardella, Rikke Steensbjerre Møller, Irma van de Beek, Linda Zuurbier, Phillis Lakeman, Allan Bayat, Julian A Martinez, Rebecca Signer, Pernille M Torring, Morten Buch Engelund, Karen W Gripp, Louise Amlie-Wolf, Lindsay B Henderson, Alina T Midro, Eugeniusz Tarasów, Beata Stasiewicz-Jarocka, Diana Moskal-Jasinska, Paul Vos, Felix Boschann, Corinna Stoltenburg, Oliver Puk, Inger-Lise Mero, Kristine Lossius, Cyril Mignot, Boris Keren, Johanna C Acosta Guio, Ignacio Briceño, Alberto Gomez, Yaping Yang, Przemyslaw Szafranski
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American journal of medical genetics. Part A 185 (5) (2021)
Przemyslaw Szafranski, Tomasz Gambin, Justyna A Karolak, Edwina Popek, Przemyslaw Szafranski
Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Human mutation 42 (6) (2021)
Daniel D Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V Schulze, Yaping Yang, Theresa A Wilson, Ido Machol, Pengfei Liu, Przemyslaw Szafranski
Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. Human genomics 15 (1) (2021)
Tomasz Gambin, Qian Liu, Justyna A Karolak, Christopher M Grochowski, Nina G Xie, Lucia R Wu, Yan Helen Yan, Ye Cao, Zeynep H Coban Akdemir, Theresa A Wilson, Shalini N Jhangiani, Ed Chen, Christine M Eng, Donna Muzny, Jennifer E Posey, Yaping Yang, David Y Zhang, Chad Shaw, Pengfei Liu, James R Lupski, Przemyslaw Szafranski
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions. Genetics in medicine : official journal of the American College of Medical Genetics 22 (11) (2020)
Marie Vincent, Justyna A Karolak, Gail Deutsch, Tomasz Gambin, Edwina Popek, Bertrand Isidor, Przemyslaw Szafranski, Cedric Le Caignec, Przemyslaw Szafranski
Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders. American journal of respiratory and critical care medicine 200 (9) (2020)
Justyna A Karolak, Tomasz Gambin, Engela M Honey, Tomas Slavik, Edwina Popek, Przemyslaw Szafranski
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. BMC medical genomics 13 (1) (2020)
Przemyslaw Szafranski, Qian Liu, Justyna A Karolak, Xiaofei Song, Nicole de Leeuw, Brigitte Faas, Romana Gerychova, Petr Janku, Marta Jezova, Iveta Valaskova, Kathleen A Gibbs, Lea F Surrey, Virginie Poisson, Denis Bérubé, Luc L Oligny, Jacques L Michaud, Edwina Popek, Przemyslaw Szafranski
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype. Human genetics 138 (11-12) (2019)
Katharina V Schulze, Przemyslaw Szafranski, Harry Lesmana, Robert J Hopkin, Aaron Hamvas, Jennifer A Wambach, Marwan Shinawi, Gladys Zapata, Claudia M B Carvalho, Qian Liu, Justyna A Karolak, James R Lupski, Neil A Hanchard, Przemyslaw Szafranski
Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clinical epigenetics 11 (1) (2019)
Laurie A Steiner, Michael Getman, Gillian M Schiralli Lester, M Anwar Iqbal, Philip Katzman, Przemyslaw Szafranski, Przemyslaw Szafranski, Soumyaroop Bhattacharya, Thomas Mariani, Gloria Pryhuber, Xin Lin, Jennifer L Young, David A Dean, Kristin Scheible
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. Journal of medical genetics 57 (5) (2019)
Justyna A Karolak, Albino Bacolla, Qian Liu, Patrick E Lantz, John Petty, Pamela Trapane, Karin Panzer, Balagangadhar R Totapally, Zhiyv Niu, Rui Xiao, Nina G Xie, Lucia R Wu, Przemyslaw Szafranski, David Y Zhang, Przemyslaw Szafranski
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. American journal of medical genetics. Part A 179 (11) (2019)
Justyna A Karolak, Przemyslaw Szafranski, David Kilner, Chirag Patel, Bonnie Scurry, Esther Kinning, Kate Chandler, Shalini N Jhangiani, Zeynep H Coban Akdemir, James R Lupski, Edwina Popek, Przemyslaw Szafranski
Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clinical genetics 96 (4) (2019)
Ye Cao, Mari J Tokita, Edward S Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Przemyslaw Szafranski
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing. Genome medicine 11 (1) (2019)
Przemyslaw Szafranski, Ewelina Kośmider, Qian Liu, Justyna A Karolak, Lauren Currie, Sandhya Parkash, Stephen G Kahler, Elizabeth Roeder, Rebecca O Littlejohn, Thomas S DeNapoli, Felix R Shardonofsky, Cody Henderson, George Powers, Virginie Poisson, Denis Bérubé, Luc Oligny, Jacques L Michaud, Sandra Janssens, Kris De Coen, Jo Van Dorpe, Annelies Dheedene, Matthew T Harting, Matthew D Weaver, Amir M Khan, Nina Tatevian, Jennifer Wambach, Kathleen A Gibbs, Edwina Popek, Anna Gambin, Przemyslaw Szafranski
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Human mutation 39 (12) (2018)
Przemyslaw Szafranski, Tomasz Gambin, Bo Yuan, Przemyslaw Szafranski, Jill A Rosenfeld, Mohammed Al Balwi, Abdulrahman Alswaid, Lihadh Al-Gazali, Aisha M Al Shamsi, Makanko Komara, Bassam R Ali, Elizabeth Roeder, Laura McAuley, Daniel S Roy, David K Manchester, Pilar Magoulas, Lauren E King, Vickie Hannig, Dominique Bonneau, Anne-Sophie Denommé-Pichon, Majida Charif, Thomas Besnard, Stéphane Bézieau, Benjamin Cogné, Joris Andrieux, Wenmiao Zhu, Weimin He, Francesco Vetrini, Patricia A Ward, Sau Wai Cheung, Weimin Bi, Christine M Eng, James R Lupski, Yaping Yang, Ankita Patel, Seema R Lalani, Fan Xia, Paweł Stankiewicz
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Human genetics 136 (4) (2017)
Przemyslaw Szafranski, Carmen Herrera, Lori A Proe, Brittany Coffman, Debra L Kearney, Edwina Popek, Przemyslaw Szafranski
Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. Clinical epigenetics 8 (2016)
Przemyslaw Szafranski
One pedigree we all may have come from - did Adam and Eve have the chromosome 2 fusion? Molecular cytogenetics 9 (2016)
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, Przemyslaw Szafranski
Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. Biology open 5 (11) (2016)
Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith, Ankita Patel, Rodger H Song, Weimin Bi, Sau Wai Cheung, Claudia M B Carvalho, Przemyslaw Szafranski, James R Lupski
Mechanisms for Complex Chromosomal Insertions. PLoS genetics 12 (11) (2016)

Przemyslaw Szafranski.css-eqlu8i{font-size:small;padding-left:4px;} (Pawel Stankiewicz, Jing Zhang, Pawe Ç Stankiewicz, Paweł Stankiewicz)

Publication Activity (10 Years)

Top Topics

Top Venues

Przemyslaw Szafranski (Pawel Stankiewicz, Jing Zhang, Pawe Ç Stankiewicz, Paweł Stankiewicz)