Pawel Stankiewicz, MD, PhD




ABMG Certified Clinical Cytogeneticist

 

POSITIONS

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

Assistant Laboratory Director
Cytogenetics Laboratory
Baylor Genetics

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

• Molecular mechanisms and clinical consequences of genomic rearrangements

SELECTED PUBLICATIONS

• 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 February;43(4):2188-98. Pubmed PMID: 25613453
• Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. "Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins.." Am J Med Genet A. 2014 August;164:2013-9. Pubmed PMID: 24842713
• Campbell IM, Gambin T, Dittwald P, Beck CR, Shuvarikov A, Hixson P, Patel A, Gambin A, Shaw CA, Rosenfeld JA, Stankiewicz P. "Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination." BMC Biol. 2014 September;12:74. Pubmed PMID: 25246103
• 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
• Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-R. "Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain.." Hum. Mutat.. 2013 June;34(6):801-11. Pubmed PMID: 23505205
• 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 January;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 August 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 January;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 December 10;87(6):857-65. Pubmed PMID: 21109226
• Boone PM, Bacino CA, Shaw CA, Eng PA, Hixson PM, Pursley AN, Kang SH, Yang Y, Wiszniewska J, Nowakowska BA, del Gaudio D, Xia Z, Simpson-Patel G, Immken LL, Gibson JB, Tsai AC, Bowers JA, Reimschisel TE, Schaaf CP, Potocki L, Scaglia F, Gambin T, Sykulski. "Detection of clinically relevant exonic copy-number changes by array CGH.." Hum. Mutat.. 2010 December;31(12):1326-42. Pubmed PMID: 20848651
• Szafranski P, Schaaf CP, Person RE, Gibson IB, Xia Z, Mahadevan S, Wiszniewska J, Bacino CA, Lalani S, Potocki L, Kang SH, Patel A, Cheung SW, Probst FJ, Graham BH, Shinawi M, Beaudet AL, Stankiewicz P. "Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?." Hum. Mutat.. 2010 July;31(7):840-50. Pubmed PMID: 20506139
• 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 December;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 June;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