Publications by authors named "Pawel Stankiewicz"

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Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather.
Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Paweł Stankiewicz

Clin Genet· January 2026

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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Pawel Stankiewicz

Genome Med· October 2025

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Cyclical Vomiting Syndrome in Individuals With BPTF Haploinsufficiency.
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, Christina D Fenger, Felix Boschann, Pawel Stankiewicz

Pediatr Neurol· September 2025

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Unraveling the Molecular and Clinical Consequences of an Intragenic TRIP12 Duplication Using Genomic and RNA Analyses.
Haowei Du, Przemyslaw Szafranski, Amanda Gerard, Mahshid S Azamian, Weimin Bi, Paweł Stankiewicz

Am J Med Genet A· July 2025

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Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.
Dorit Trudler, Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Pawel Stankiewicz

Mol Psychiatry· April 2025

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The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.
Przemyslaw Szafranski, Tomasz Gambin, Gail Deutsch, Salma A Nassef, Mary Clay Bailey, Paweł Stankiewicz

Am J Med Genet A· March 2025

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Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes.
Yingxi Wang, Eleanor I Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Pawel Stankiewicz

medRxiv· March 2025

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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.
Matthew Hoi Kin Chau, Stephanie A Anderson, Rodger Song, Lance Cooper, Patricia A Ward, Paweł Stankiewicz

Clin Chem· January 2025

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A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic.
Rida Haider, Lauren Desrosiers-Battu, Sarah Scollon, Pawel Stankiewicz, Philip J Lupo

Fam Cancer· November 2024

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Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Alessandro Ferretti, Margherita Furlan, Kevin E Glinton, Christina D Fenger, Felix Boschann, Pawel Stankiewicz

Pediatr Neurol· September 2024

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Diminished 100 Expression in a Newborn With Acinar Dysplasia and a Novel Variant: A Case Report.
Przemyslaw Szafranski, Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Paweł Stankiewicz

Pediatr Dev Pathol· May 2024

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Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia.
Csaba Galambos, J Wells Logan, Pawel Stankiewicz, Przemyslaw Szafranski, Carola Zalles

Pediatr Pulmonol· October 2023

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

Clin Epigenetics· October 2023

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A Small De Novo CNV Deletion of the Paternal Copy of , Leaving lncRNA Intact, Provides Insight into Their Bidirectional Promoter Region.
Przemyslaw Szafranski, Paweł Stankiewicz

Noncoding RNA· October 2023

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Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.
Minzhe Guo, Kathryn A Wikenheiser-Brokamp, Joseph A Kitzmiller, Cheng Jiang, Guolun Wang, Pawel Stankiewicz

Am J Respir Crit Care Med· September 2023

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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.
Barbara Poszewiecka, Krzysztof Gogolewski, Justyna A Karolak, Paweł Stankiewicz, Anna Gambin

Genome Biol· September 2023

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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia.
Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Paweł Stankiewicz

Hum Genet· June 2023

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Molecular Function and Contribution of in Development and Disease.
Justyna A Karolak, Carrie L Welch, Christian Mosimann, Katarzyna Bzdęga, James D West, Paweł Stankiewicz

Am J Respir Crit Care Med· April 2023

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SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia.
Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Paweł Stankiewicz

Res Sq· March 2023

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Prenatal Detection of a Deletion in a Fetus with ACDMPV and Hydronephrosis.
Katarzyna Bzdęga, Anna Kutkowska-Kaźmierczak, Gail H Deutsch, Izabela Plaskota, Marta Smyk, Paweł Stankiewicz

Genes (Basel)· February 2023

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Cloud-native distributed genomic pileup operations.
Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin

Bioinformatics· January 2023

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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.
Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Paweł Stankiewicz

Mol Genet Genomic Med· November 2022

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Ultra-conserved non-coding sequences within the enhancer are critical for human lung development.
Przemyslaw Szafranski, Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A Karolak, Paweł Stankiewicz

Genes Dis· November 2022

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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.
Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Admire Matsika, Paweł Stankiewicz

Eur J Hum Genet· October 2022

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