Positions
- Professor
-
Molecular and Human Genetics
²ÝÁñÉçÇøÈë¿Ú
Houston, TX US
- Assistant Laboratory Director
-
Cytogenetics Laboratory
Baylor Genetics
- Member
-
Dan L Duncan Comprehensive Cancer Center
²ÝÁñÉçÇøÈë¿Ú
Houston, Texas United States
Education
- MD from Medical University Of Warsaw
- 01/1991 - Warsaw, Poland
- PhD from Institute Of Mother And Child
- 01/1999 - Warsaw, Poland
- Post-Doctoral Fellowship at ²ÝÁñÉçÇøÈë¿Ú
- 01/2003 - Houston, Texas United States
- DSc from Institute of Mother and Child
- 01/2006 - Warsaw, Warsaw Poland
Certifications
- Clinical Cytogenetics
- American Board of Medical Genetics
Professional Interests
- Genetics of lung development; Somatic mosaicism; Molecular mechanisms and clinical consequences of genomic rearrangements.
Professional Statement
Genomic Disorders: The focus of our research is pathogenetics of lung development, and particularly the role of non-coding regulatory elements. We demonstrated that haploinsufficiency of the transcriptional factor FOXF1 gene on 16q24.1 results in a lethal neonatal diffuse developmental lung disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. We described the role of the TBX4 and FGF10 genes in other developmental lung diseases, including acinar dysplasia and congenital alveolar dysplasia.We found that somatic mosaicism for CNVs that also contribute to germline mosaicism is significantly more common than previously thought. We showed that a considerable number of apparently de novo mutations causing genomic disorders occur in the previous generation as low-level somatic mosaicism and can thus be recurrently transmitted to future offspring.
We unraveled the complexity of ancestral chromosome 2 fusion in humans, going from 48 to 46 chromosomes in hominin evolution.
We identified the causative role of the PSMD12, BPTF, MEF2C, and TRIP12 genes and defined the Stankiewicz-Isidor syndrome (OMIM #617516), Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome (OMIM #617755), Chromosome 5q14.3 deletion syndrome (OMIM #613443), and Clark-Baraitser syndrome (OMIM #617752), respectively.
Websites
Selected Publications
- Poszewiecka B, Gogolewski K, Karolak JA, Stankiewicz P, Gambin A "." Genome Biol.. 2023 Sep;24:205. Pubmed PMID:
- Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P "." Hum Genet.. 2023 Jun;142:721-733. Pubmed PMID:
- Isidor B, (…), Küry S, Stankiewicz P "." Genet Med.. 2022;24:179-91. Pubmed PMID:
- Karolak JA, Deutsch G, (…) Stankiewicz P. "." Am J Respir Cell Mol Biol.. 2022;66:694-97. Pubmed PMID:
- Domogala DD, Gambin T, Zemet R, (…), Liu P, Stankiewicz P. "." Hum Genomics. 2021;15:72. Pubmed PMID:
- Glinton KE, (…), Yang Y, Stankiewicz P. "." Am J Med Genet A.. 2021;185:1366-78.. Pubmed PMID:
- Gambin T, Liu Q, Karolak JA, (…), Lupski JR, Stankiewicz P "Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions.." Genet Med.. 2020;22::1768-1776.
- Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P "." Am J Respir Crit Care Med. 2019;200:1093-101. Pubmed PMID:
- Karolak JA, Vincent M, Deutsch G, Gambin T, (…) Le Caignec C, Stankiewicz P "." Am J Hum Genet. 2019;104:213-28. Pubmed PMID:
- Cao Y, Tokita MJ, (…) Liu P, Stankiewicz P "." Genome Med. 2019;11:48. Pubmed PMID:
- Szafranski P, Liu Q, Karolak JA, (…) Popek E, Stankiewicz P "." Hum Genet. 2019;138:1301-11. Pubmed PMID:
- Schulze KV, Szafranski P, (…) Hanchard NA, Stankiewicz P "." Clin Epigenetics. 2019;11:60. Pubmed PMID:
- Szafranski P, Kośmider E, (…), Gambin A, Stankiewicz P "." Hum Mutat. 2018;39:1916-1925. Pubmed PMID:
- Stankiewicz P, Khan TN, Szafranski P, (…), Davis EE, Yang Y "." Am J Hum Genet. 2017;101:503-15. Pubmed PMID:
- Gambin T, Yuan B, (…), Shaw CA, Stankiewicz P. "." Genome Med. 2017;9:83. Pubmed PMID:
- Küry S, (…), Stankiewicz P*, Isidor B* "." Am J Hum Genet. 2017;100:352-63. Pubmed PMID:
- Zhang J, Gambin T, (…), Xia F, Stankiewicz P "." Hum Genet. 2017;136:377-86. Pubmed PMID:
- Szafranski P, Gambin T, Dharmadhikari AV, (…), Stankiewicz P "Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins." Hum Genet. 2016;135:569-86.
- Startek M, Szafranski P, Gambin T, Campbell IM, Hixson P, Shaw CA, Stankiewicz P, Gambin A "." Nucleic Acids Res. 2015 Feb;43(4):2188-98. Pubmed PMID:
- Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, ..., Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P "." Am J Hum Genet.. 2014;95(2):173-82. Pubmed PMID:
- Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, ..., Kang SH, Breman A, Lalani SR, Bacino CA, Bi W, Milosavljevic A, Beaudet AL, Patel A, Shaw CA, Lupski JR, Gambin A, Cheung SW, Stankiewicz P "." Genome Res.. 2013;23(9):1395-409. Pubmed PMID:
- Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Person RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF, Hustead VA, Jessurun J, Hirsch R, W "." Genome Res.. 2013 Jan;23(1):23-33. Pubmed PMID:
- Dharmadhikari AV, Kang SH, Szafranski P, Person RE, Sampath S, Prakash SK, Bader PI, Phillips JA, Hannig V, Williams M, Vinson SS, Wilfong AA, Reimschisel TE, Craigen WJ, Patel A, Bi W, Lupski JR, Belmont J, Cheung SW, Stankiewicz P "." Hum. Mol. Genet.. 2012 Aug 1;21(15):3345-55. Pubmed PMID:
- Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, "." Hum. Mutat.. 2012 Jan;33(1):165-79. Pubmed PMID:
- Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino "." Am. J. Hum. Genet.. 2010 Dec 10;87(6):857-65. Pubmed PMID:
- Shinawi M, Schaaf CP, Bhatt SS, Xia Z, Patel A, Cheung SW, Lanpher B, Nagl S, Herding HS, Nevinny-Stickel C, Immken LL, Patel GS, German JR, Beaudet AL, Stankiewicz P "." Nat. Genet.. 2009 Dec;41(12):1269-71. Pubmed PMID:
- Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, New "." Am. J. Hum. Genet.. 2009 Jun;84(6):780-91. Pubmed PMID:
Memberships
- American Society of Human Genetics
- Member
- European Society of Human Genetics
- Member
- Polish Society of Human Genetics
- Member
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