Stankiewicz P - Search Results

1

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.

Guo M, Wikenheiser-Brokamp KA, Kitzmiller JA, Jiang C, Wang G, Wang A, Preissl S, Hou X, Buchanan J, Karolak JA, Miao Y, Frank DB, Zacharias WJ, Sun X, Xu Y, Gu M, Stankiewicz P, Kalinichenko VV, Wambach JA, Whitsett JA. Guo M, et al. Among authors: stankiewicz p. Am J Respir Crit Care Med. 2023 Sep 15;208(6):709-725. doi: 10.1164/rccm.202210-2015OC. Am J Respir Crit Care Med. 2023. PMID: 37463497 Free PMC article.

2

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report.

Szafranski P, Patrizi S, Gambin T, Afzal B, Schlotterbeck E, Karolak JA, Deutsch G, Roberts D, Stankiewicz P. Szafranski P, et al. Among authors: stankiewicz p. Pediatr Dev Pathol. 2024 May-Jun;27(3):255-259. doi: 10.1177/10935266231213464. Epub 2023 Dec 3. Pediatr Dev Pathol. 2024. PMID: 38044468

3

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

Szafranski P, Garimella RP, Mani H, Hartman R, Deutsch G, Silk A, Benheim A, Stankiewicz P. Szafranski P, et al. Among authors: stankiewicz p. Clin Epigenetics. 2023 Oct 21;15(1):169. doi: 10.1186/s13148-023-01587-6. Clin Epigenetics. 2023. PMID: 37865798 Free PMC article.

4

Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage.

Chau MHK, Anderson SA, Song R, Cooper L, Ward PA, Yuan B, Shaw C, Stankiewicz P, Cheung SW, Vossaert L, Wang Y, Owen NM, Smith J, Bacino CA, Schulze KV, Bi W. Chau MHK, et al. Among authors: stankiewicz p. Clin Chem. 2025 Jan 3;71(1):141-154. doi: 10.1093/clinchem/hvae188. Clin Chem. 2025. PMID: 39749505

5

A family-based approach to cascade genetic testing in a pediatric cancer genetics clinic.

Haider R, Desrosiers-Battu L, Scollon S, Stankiewicz P, Lupo PJ, Plon SE. Haider R, et al. Among authors: stankiewicz p. Fam Cancer. 2024 Nov 20;24(1):8. doi: 10.1007/s10689-024-00434-8. Fam Cancer. 2024. PMID: 39565446

6

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development.

Szafranski P, Gambin T, Deutsch G, Nassef SA, Bailey MC, Kearney DL, Stankiewicz P. Szafranski P, et al. Among authors: stankiewicz p. Am J Med Genet A. 2024 Nov 17:e63936. doi: 10.1002/ajmg.a.63936. Online ahead of print. Am J Med Genet A. 2024. PMID: 39552269

7

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

Trudler D, Ghatak S, Bula M, Parker J, Talantova M, Luevanos M, Labra S, Grabauskas T, Noveral SM, Teranaka M, Schahrer E, Dolatabadi N, Bakker C, Lopez K, Sultan A, Patel P, Chan A, Choi Y, Kawaguchi R, Stankiewicz P, Garcia-Bassets I, Kozbial P, Rosenfeld MG, Nakanishi N, Geschwind DH, Chan SF, Lin W, Schork NJ, Ambasudhan R, Lipton SA. Trudler D, et al. Among authors: stankiewicz p. Mol Psychiatry. 2024 Sep 30. doi: 10.1038/s41380-024-02761-9. Online ahead of print. Mol Psychiatry. 2024. PMID: 39349966

8

Epilepsy as a Novel Phenotype of BPTF-Related Disorders.

Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: stankiewicz p. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258

9

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

Szafranski P, Stankiewicz P. Szafranski P, et al. Among authors: stankiewicz p. Noncoding RNA. 2023 Oct 9;9(5):61. doi: 10.3390/ncrna9050061. Noncoding RNA. 2023. PMID: 37888207 Free PMC article.

10

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.

Poszewiecka B, Gogolewski K, Karolak JA, Stankiewicz P, Gambin A. Poszewiecka B, et al. Among authors: stankiewicz p. Genome Biol. 2023 Sep 11;24(1):205. doi: 10.1186/s13059-023-03022-8. Genome Biol. 2023. PMID: 37697406 Free PMC article.

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