Pawel Stankiewicz

Pawel Stankiewicz, M.D., Ph.D.

Professor

(713) 798-5370

Email

pawels@bcm.edu

Positions

Professor: Molecular and Human Genetics
��Ƶ of Medicine
Houston, TX, US

Assistant Laboratory Director: Cytogenetics Laboratory
Baylor Genetics

Member: Dan L Duncan Comprehensive Cancer Center
��Ƶ of Medicine
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 ��Ƶ of Medicine: 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 alveolar capillary dysplasia with misalignment of pulmonary veins, a lethal diffuse developmental lung disorder in neonates. We also described the role of the TBX4 and FGF10 genes in other lethal developmental lung disorders, including acinar dysplasia and congenital alveolar dysplasia.

We found that somatic mosaicism 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 also described a “hypermutator phenotype” phenomenon in Fanconi anemia. 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

Department of Molecular and Human Genetics

Lab

Selected Publications

Szafranski P, Gambin T, Deutsch G, Nassef SA, Bailey MC, Kearney DL, Stankiewicz P. " " Am J Med Genet A. 2025 ; 197 (3) : e63936.
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Poszewiecka B, Gogolewski K, Karolak JA, Stankiewicz P, Gambin A. " " Genome Biol.. 2023 Sep ; 24 : 205.
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Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P. " " Hum Genet.. 2023 Jun ; 142 : 721-733.
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Isidor B, (…), Küry S, Stankiewicz P. " " Genet Med.. 2022 ; 24 : 179-91.
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Karolak JA, Deutsch G, (…) Stankiewicz P.. " " Am J Respir Cell Mol Biol.. 2022 ; 66 : 694-97.
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Domogala DD, Gambin T, Zemet R, (…), Liu P, Stankiewicz P.. " " Hum Genomics. 2021 ; 15 : 72.
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Glinton KE, (…), Yang Y, Stankiewicz P.. " " Am J Med Genet A.. 2021 ; 185 : 1366-78..
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Gambin T, Liu Q, Karolak JA, (…), Lupski JR, Stankiewicz P. " " Genet Med.. 2020 Jul ; 22 : 1768-1776.
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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 Nov ; 200 : 1093-101.
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Karolak JA, Vincent M, Deutsch G, Gambin T, (…) Le Caignec C, Stankiewicz P. " " Am J Hum Genet. 2019 ; 104 : 213-28.
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Cao Y, Tokita MJ, (…) Liu P, Stankiewicz P. " " Genome Med. 2019 ; 11 : 48.
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Szafranski P, Liu Q, Karolak JA, (…) Popek E, Stankiewicz P. " " Hum Genet. 2019 ; 138 : 1301-11.
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Schulze KV, Szafranski P, (…) Hanchard NA, Stankiewicz P. " " Clin Epigenetics. 2019 ; 11 : 60.
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Szafranski P, Kośmider E, (…), Gambin A, Stankiewicz P. " " Hum Mutat. 2018 ; 39 : 1916-1925.
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Stankiewicz P, Khan TN, Szafranski P, (…), Davis EE, Yang Y. " " Am J Hum Genet. 2017 ; 101 : 503-15.
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Gambin T, Yuan B, (…), Shaw CA, Stankiewicz P.. " " Genome Med. 2017 ; 9 : 83.
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Küry S, (…), Stankiewicz P*, Isidor B*. " " Am J Hum Genet. 2017 ; 100 : 352-63.
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Zhang J, Gambin T, (…), Xia F, Stankiewicz P. " " Hum Genet. 2017 ; 136 : 377-86.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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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