Pawel Stankiewicz

Stankiewicz

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

Professor

(713) 798-5370

Email

pawels@bcm.edu

Positions

Professor: Molecular and Human Genetics
Baylor College of Medicine
Houston, TX, US

Assistant Laboratory Director: Cytogenetics Laboratory
Baylor Genetics

Member: Dan L Duncan Comprehensive Cancer Center
Baylor College 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 Baylor College 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

Baylor Genetics

Department of Molecular and Human Genetics

VIICTR Publications List

Lab

Selected Publications

Szafranski P, Gambin T, Deutsch G, Nassef SA, Bailey MC, Kearney DL, Stankiewicz P. " The Glu86 Residue in TBX4 Proves Critical for Human Lung Development " Am J Med Genet A. 2025 ; 197 (3) : e63936.
Pubmed PMID: 39552269.
Poszewiecka B, Gogolewski K, Karolak JA, Stankiewicz P, Gambin A. " 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. " Genome Biol.. 2023 Sep ; 24 : 205.
Pubmed PMID: 37697406.
Zemet R, Du H, Gambin T, Lupski JR, Liu P, Stankiewicz P. " SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia. " Hum Genet.. 2023 Jun ; 142 : 721-733.
Pubmed PMID: 37031326.
Isidor B, (…), Küry S, Stankiewicz P. " Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype " Genet Med.. 2022 ; 24 : 179-91.
Pubmed PMID: 34906456.
Karolak JA, Deutsch G, (…) Stankiewicz P.. " Transcriptome and Immunohistochemical Analyses in TBX4- and FGF10-Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development. " Am J Respir Cell Mol Biol.. 2022 ; 66 : 694-97.
Pubmed PMID: 35648090.
Domogala DD, Gambin T, Zemet R, (…), Liu P, Stankiewicz P.. " Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset. " Hum Genomics. 2021 ; 15 : 72.
Pubmed PMID: 34930489.
Glinton KE, (…), Yang Y, Stankiewicz P.. " Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. " Am J Med Genet A.. 2021 ; 185 : 1366-78..
Pubmed PMID: 33522091.
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 Jul ; 22 : 1768-1776.
Pubmed PMID: 32655138.
Vincent M, Karolak JA, Deutsch G, Gambin T, Popek E, Isidor B, Szafranski P, Le Caignec C, Stankiewicz P. " Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders " Am J Respir Crit Care Med. 2019 Nov ; 200 : 1093-101.
Pubmed PMID: 31189067.
Karolak JA, Vincent M, Deutsch G, Gambin T, (…) Le Caignec C, Stankiewicz P. " Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway " Am J Hum Genet. 2019 ; 104 : 213-28.
Pubmed PMID: 30639323.
Cao Y, Tokita MJ, (…) Liu P, Stankiewicz P. " A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing " Genome Med. 2019 ; 11 : 48.
Pubmed PMID: 31349857.
Szafranski P, Liu Q, Karolak JA, (…) Popek E, Stankiewicz P. " Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype " Hum Genet. 2019 ; 138 : 1301-11.
Pubmed PMID: 31686214.
Schulze KV, Szafranski P, (…) Hanchard NA, Stankiewicz P. " Novel parent-of-origin-specific differentially methylated loci on chromosome 16 " Clin Epigenetics. 2019 ; 11 : 60.
Pubmed PMID: 30961659.
Szafranski P, Kośmider E, (…), Gambin A, Stankiewicz P. " LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV " Hum Mutat. 2018 ; 39 : 1916-1925.
Pubmed PMID: 30084155.
Stankiewicz P, Khan TN, Szafranski P, (…), Davis EE, Yang Y. " Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features " Am J Hum Genet. 2017 ; 101 : 503-15.
Pubmed PMID: 28942966.
Gambin T, Yuan B, (…), Shaw CA, Stankiewicz P.. " Identification of novel candidate disease genes from de novo exonic copy number variants. " Genome Med. 2017 ; 9 : 83.
Pubmed PMID: 28934986.
Küry S, (…), Stankiewicz P*, Isidor B*. " De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder " Am J Hum Genet. 2017 ; 100 : 352-63.
Pubmed PMID: 28388435.
Zhang J, Gambin T, (…), Xia F, Stankiewicz P. " Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features " Hum Genet. 2017 ; 136 : 377-86.
Pubmed PMID: 28251352.
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. " Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination " Nucleic Acids Res. 2015 Feb ; 43 (4) : 2188-98.
Pubmed PMID: 25613453.
Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, ..., Cheung SW, Shaw CA, Vissers LE, Vermeesch JR, Lupski JR, Stankiewicz P. " Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders. " Am J Hum Genet.. 2014 ; 95 (2) : 173-82.
Pubmed PMID: 25087610.
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. " NAHR-mediated copy-number variants in a clinical population: Mechanistic insights into both genomic disorders and Mendelizing traits. " Genome Res.. 2013 ; 23 (9) : 1395-409.
Pubmed PMID: 23657883.
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. " Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. " Genome Res.. 2013 Jan ; 23 (1) : 23-33.
Pubmed PMID: 23034409.
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. " Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. " Hum. Mol. Genet.. 2012 Aug 1; 21 (15) : 3345-55.
Pubmed PMID: 22543972.
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,. " Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. " Hum. Mutat.. 2012 Jan ; 33 (1) : 165-79.
Pubmed PMID: 21948486.
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 . " Recurrent Distal 7q11.23 Deletion Including HIP1 and YWHAG Identified in Patients with Intellectual Disabilities, Epilepsy, and Neurobehavioral Problems. " Am. J. Hum. Genet.. 2010 Dec 10; 87 (6) : 857-65.
Pubmed PMID: 21109226.
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. " A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes. " Nat. Genet.. 2009 Dec ; 41 (12) : 1269-71.
Pubmed PMID: 19898479.
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. " Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. " Am. J. Hum. Genet.. 2009 Jun ; 84 (6) : 780-91.
Pubmed PMID: 19500772.

Memberships

American Society of Human Genetics: Member

European Society of Human Genetics: Member

Polish Society of Human Genetics: Member

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