P. Szafranski

发表

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Z. Ou, P. Stankiewicz, Z. Xia, 2011, Genome research.

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia.

P. Stankiewicz, P. Szafranski, J. Whitsett, 2019, American journal of respiratory and critical care medicine.

6q22.1 microdeletion and susceptibility to pediatric epilepsy

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2014, European Journal of Human Genetics.

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

Justyna A. Karolak, Denise G. Lanza, Jason D. Heaney, 2017, Mammalian Genome.

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

P. Stankiewicz, P. Szafranski, Ankita Patel, 2012, Human molecular genetics.

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of medical genetics. Part A.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.

Novel FOXF 1 mutations in sporadic and familial cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins imply a role for its DNA binding domain

Gustavo, Ulrike, Schady, 2013 .

Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, American journal of medical genetics. Part A.

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

P. Szafranski, M. Chung, P. Tchou, 2003, Clinical genetics.

Identification of a New Co-factor, MOG1, Required for the Full Function of Cardiac Sodium Channel Nav1.5*

P. Szafranski, C. Obejero-Paz, T. Ke, 2008, Journal of Biological Chemistry.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2021, Respiratory Research.

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2020, The Journal of Molecular Diagnostics.

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Z. Ou, P. Stankiewicz, B. Dawson, 2012, European Journal of Human Genetics.

Basolateral junctions are sufficient to suppress epithelial invasion during Drosophila oogenesis

P. Szafranski, S. Goode, 2007, Developmental dynamics : an official publication of the American Association of Anatomists.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

P. Stankiewicz, P. Szafranski, Ankita Patel, 2014, European Journal of Human Genetics.

Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, American journal of respiratory cell and molecular biology.

Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, European Journal of Human Genetics.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, Molecular genetics & genomic medicine.

Identification and molecular characterization of de novo translocation t(8;14)(q22.3;q13) associated with a vascular and tissue overgrowth syndrome

P. Szafranski, A. Baldini, D. Driscoll, 2001, Cytogenetic and Genome Research.

Ligand assisted CuAAC labelling and RP-HPLC analysis of zidovudine and Retrovir using propargyl-Fmoc probe.

P. Szafranski, E. Wyska, P. Zajdel, 2022, European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical Sciences.

Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay

P. Stankiewicz, P. Szafranski, S. Cheung, 2013, European Journal of Human Genetics.

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, European journal of medical genetics.

Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders.

L. Vissers, R. Pfundt, P. Stankiewicz, 2014, American journal of human genetics.

A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures

P. Stankiewicz, P. Szafranski, E. Roeder, 2015, American journal of medical genetics. Part A.

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical genetics.

Basolateral Junctions Utilize Warts Signaling to Control Epithelial-Mesenchymal Transition and Proliferation Crucial For Migration and Invasion of Drosophila Ovarian Epithelial Cells

P. Szafranski, Min Zhao, S. Goode, 2008, Genetics.

Cardiovascular activity of the chiral xanthone derivatives.

P. Szafranski, H. Marona, N. Szkaradek, 2015, Bioorganic & medicinal chemistry.

Changes in the cannabinoids receptors in rats following treatment with antidepressants

P. Szafranski, M. Filip, A. Faron-Górecka, 2017, Neurotoxicology.

Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2021, Human mutation.

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

P. Stankiewicz, P. Szafranski, 2021, Genes.

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Kristin M. Scheible, U. Surti, P. Stankiewicz, 2016, Human Genetics.

Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease

P. Stankiewicz, P. Szafranski, V. Kalinichenko, 2015, Current genomics.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

P. Stankiewicz, P. Szafranski, S. Cheung, 2014, BMC Medical Genetics.

Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder

Bo Chen, Piotr Dittwald, Erwin Brosens, 2013, Genome research.

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

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

Juliane Hoyer, Bernt Popp, André Reis, 2017, American journal of human genetics.

Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV

P. Stankiewicz, P. Szafranski, E. Popek, 2016, Clinical Epigenetics.

LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2018, Human mutation.

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?

P. Stankiewicz, Z. Xia, J. Wiszniewska, 2010, Human mutation.

Mechanisms for Complex Chromosomal Insertions

P. Stankiewicz, A. Breman, P. Szafranski, 2016, PLoS genetics.

NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits

J. Rosenfeld, P. Stankiewicz, A. Breman, 2013, Genome research.

Genome-wide analyses of LINE–LINE-mediated nonallelic homologous recombination

Anna Gambin, Tomasz Gambin, Chad A. Shaw, 2015, Nucleic acids research.

Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development

Kristin M. Scheible, P. Stankiewicz, P. Szafranski, 2019, Journal of Medical Genetics.

Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation

P. Stankiewicz, P. Szafranski, A. Nordgren, 2019, Molecular genetics & genomic medicine.

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

P. Stankiewicz, P. Szafranski, M. Smyk, 2013, Chromosome Research.

A Fasciclin 2 morphogenetic switch organizes epithelial cell cluster polarity and motility

P. Szafranski, S. Goode, 2004, Development.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

P. Stankiewicz, P. Szafranski, Yaping Yang, 2021, Applied Radiology.

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, American journal of respiratory and critical care medicine.

Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation

P. Stankiewicz, P. Szafranski, A. Hamvas, 2017, The Journal of Pediatrics.

Highly sensitive blocker displacement amplification and droplet digital PCR reveal very low-level parental FOXF1 somatic mosaicism in families with ACDMPV.

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2020, Journal of Molecular Diagnostics.

Comparative Analyses of Lung Transcriptomes in Patients with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins and in Foxf1 Heterozygous Knockout Mice

P. Stankiewicz, P. Szafranski, M. Justice, 2014, PloS one.

Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems.

P. Stankiewicz, Z. Xia, P. Szafranski, 2010, American journal of human genetics.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, American journal of medical genetics. Part A.

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

P. Stankiewicz, P. Szafranski, M. Smyk, 2013, Chromosome Research.

Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression

Russell S. Ray, Jenny J. Sun, P. Stankiewicz, 2016, Biology Open.

Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2022, Genes & diseases.

Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins

P. Stankiewicz, P. Szafranski, P. Sen, 2014, American journal of medical genetics. Part A.

Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.

P. Stankiewicz, P. Szafranski, E. Plosa, 2016, The Journal of pediatrics.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2021, Respiratory Research.

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

Justyna A. Karolak, N. de Leeuw, P. Stankiewicz, 2019, Human Genetics.

Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary.

P. Szafranski, A. Rajkovic, S. Ochsner, 2003, Gene expression patterns : GEP.

Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa

P. Szafranski, 2017, BMC Genomics.

Principal transcription sigma factors of Pseudomonas putida strains mt-2 and G1 are significantly different.

P. Szafranski, C. Cantor, C. Smith, 1997, Gene.

New Dielis species and structural dichotomy of the mitochondrial cox2 gene in Scoliidae wasps

P. Szafranski, 2023, Scientific Reports.

CAV3 mutation in a patient with transient hyperCKemia and myalgia.

P. Stankiewicz, P. Szafranski, J. Lupski, 2016, Neurologia i neurochirurgia polska.

Intercompartmental Piecewise Gene Transfer

P. Szafranski, 2017, Genes.

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel–Trenaunay syndrome

P. Szafranski, D. Housman, Shaoqi Rao, 2004, Nature.

Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia

P. Stankiewicz, P. Szafranski, C. Zalles, 2023, Pediatric pulmonology.

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

Justyna A. Karolak, P. Stankiewicz, P. Szafranski, 2019, Clinical Epigenetics.

Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

P. Stankiewicz, P. Szafranski, E. Kerem, 2016, Pediatric pulmonology.

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

J. Rosenfeld, P. Stankiewicz, P. Szafranski, 2017, Human Genetics.

The mitochondrial trn–cox1 locus: Rapid evolution in Pompilidae and evidence of bias in cox1 initiation and termination codon usage

P. Szafranski, Przemyslaw Szafranski, 2009, Mitochondrial DNA.

Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa

P. Szafranski, 2017, BMC Genomics.

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

P. Stankiewicz, P. Szafranski, J. Beckmann, 2013, Human mutation.