TitleAssociate Professor
InstitutionBaylor College of Medicine
DepartmentDepartment of Molecular & Human Genetics
AddressOne Baylor Plaza
Houston, TX 77030
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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Yildiz Bölükbasi E, Karolak JA, Szafranski P, Gambin T, Matsika A, McManus S, Scott HS, Arts P, Ha T, Barnett CP, Rodgers J, Stankiewicz P. Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant. Eur J Hum Genet. 2022 Jul 28. PMID: 35902696.
      Citations:    Fields:    
    2. Karolak JA, Deutsch G, Gambin T, Szafranski P, Popek E, 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 06; 66(6):694-697. PMID: 35648090.
      Citations:    Fields:    Translation:HumansCells
    3. Yildiz Bölükbasi E, Karolak JA, Gambin T, Szafranski P, Deutsch GH, Stankiewicz P. Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies? Eur J Med Genet. 2022 Jun; 65(6):104519. PMID: 35533956.
      Citations:    Fields:    Translation:HumansCells
    4. Yildiz Bölükbasi E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant. Am J Med Genet A. 2022 05; 188(5):1420-1425. PMID: 35075769.
      Citations:    Fields:    Translation:Humans
    5. Karolak JA, Gambin T, Szafranski P, Maywald RL, Popek E, Heaney JD, Stankiewicz P. Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency. Respir Res. 2021 Jul 27; 22(1):212. PMID: 34315444.
      Citations: 1     Fields:    Translation:HumansCells
    6. Szafranski P, Gambin T, Karolak JA, Popek E, Stankiewicz P. Lung-specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR. Hum Mutat. 2021 06; 42(6):694-698. PMID: 33739555.
      Citations: 2     Fields:    Translation:HumansCells
    7. Szafranski P, Stankiewicz P. Long Non-Coding RNA FENDRR: Gene Structure, Expression, and Biological Relevance. Genes (Basel). 2021 01 27; 12(2). PMID: 33513839.
      Citations: 7     Fields:    Translation:HumansCells
    8. Karolak JA, Gambin T, Szafranski P, Stankiewicz P. Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq. Respir Res. 2021 Jan 21; 22(1):26. PMID: 33478486.
      Citations: 2     Fields:    Translation:HumansCells
    9. Karolak JA, Liu Q, Xie NG, Wu LR, Rocha G, Fernandes S, Ho-Ming L, Lo IF, Mowat D, Fiorino EK, Edelman M, Fox J, Hayes DA, Witte D, Parrott A, Popek E, Szafranski P, Zhang DY, Stankiewicz P. Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. J Mol Diagn. 2020 04; 22(4):447-456. PMID: 32036090.
      Citations: 6     Fields:    Translation:Humans
    10. Szafranski P, Liu Q, Karolak JA, Song X, de Leeuw N, Faas B, Gerychova R, Janku P, Jezova M, Valaskova I, Gibbs KA, Surrey LF, Poisson V, Bérubé D, Oligny LL, Michaud JL, 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 Dec; 138(11-12):1301-1311. PMID: 31686214.
      Citations: 7     Fields:    Translation:HumansCells
    11. 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 11 01; 200(9):1093-1101. PMID: 31189067.
      Citations: 10     Fields:    Translation:Humans
    12. Steiner LA, Getman M, Schiralli Lester GM, Iqbal MA, Katzman P, Szafranski P, Stankiewicz P, Bhattacharya S, Mariani T, Pryhuber G, Lin X, Young JL, Dean DA, Scheible K. Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development. J Med Genet. 2020 05; 57(5):296-300. PMID: 31662342.
      Citations: 3     Fields:    Translation:HumansCells
    13. Pradhan A, Dunn A, Ustiyan V, Bolte C, Wang G, Whitsett JA, Zhang Y, Porollo A, Hu YC, Xiao R, Szafranski P, Shi D, Stankiewicz P, Kalin TV, Kalinichenko VV. The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia. Am J Respir Crit Care Med. 2019 10 15; 200(8):1045-1056. PMID: 31199666.
      Citations: 22     Fields:    Translation:HumansAnimalsCells
    14. Karolak JA, Bacolla A, Liu Q, Lantz PE, Petty J, Trapane P, Panzer K, Totapally BR, Niu Z, Xiao R, Xie NG, Wu LR, Szafranski P, Zhang DY, Stankiewicz P. A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A. 2019 11; 179(11):2272-2276. PMID: 31436901.
      Citations:    Fields:    Translation:HumansCells
    15. Karolak JA, Szafranski P, Kilner D, Patel C, Scurry B, Kinning E, Chandler K, Jhangiani SN, Coban Akdemir ZH, Lupski JR, Popek E, Stankiewicz P. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet. 2019 10; 96(4):366-370. PMID: 31309540.
      Citations: 3     Fields:    Translation:Humans
    16. Schulze KV, Szafranski P, Lesmana H, Hopkin RJ, Hamvas A, Wambach JA, Shinawi M, Zapata G, Carvalho CMB, Liu Q, Karolak JA, Lupski JR, Hanchard NA, Stankiewicz P. Novel parent-of-origin-specific differentially methylated loci on chromosome 16. Clin Epigenetics. 2019 04 08; 11(1):60. PMID: 30961659.
      Citations: 5     Fields:    Translation:HumansCells
    17. Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, 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 02 07; 104(2):213-228. PMID: 30639323.
      Citations: 28     Fields:    Translation:HumansCells
    18. Salehi Karlslätt K, Pettersson M, Jäntti N, Szafranski P, Wester T, Husberg B, Ullberg U, Stankiewicz P, Nordgren A, Lundin J, Lindstrand A, Nordenskjöld A. Rare copy number variants contribute pathogenic alleles in patients with intestinal malrotation. Mol Genet Genomic Med. 2019 03; 7(3):e549. PMID: 30632303.
      Citations: 6     Fields:    Translation:HumansCells
    19. Szafranski P, Kosmider E, Liu Q, Karolak JA, Currie L, Parkash S, Kahler SG, Roeder E, Littlejohn RO, DeNapoli TS, Shardonofsky FR, Henderson C, Powers G, Poisson V, Bérubé D, Oligny L, Michaud JL, Janssens S, De Coen K, Van Dorpe J, Dheedene A, Harting MT, Weaver MD, Khan AM, Tatevian N, Wambach J, Gibbs KA, Popek 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 12; 39(12):1916-1925. PMID: 30084155.
      Citations: 7     Fields:    Translation:HumansCells
    20. Towe CT, White FV, Grady RM, Sweet SC, Eghtesady P, Wegner DJ, Sen P, Szafranski P, Stankiewicz P, Hamvas A, Cole FS, Wambach JA. Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins Who Underwent Bilateral Lung Transplantation. J Pediatr. 2018 03; 194:158-164.e1. PMID: 29198536.
      Citations: 14     Fields:    Translation:Humans
    21. Szafranski P. Intercompartmental Piecewise Gene Transfer. Genes (Basel). 2017 Oct 06; 8(10). PMID: 28984842.
      Citations: 3     Fields:    
    22. Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL, Katsanis N, Bostwick B, Popp B, 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 Oct 05; 101(4):503-515. PMID: 28942966.
      Citations: 27     Fields:    Translation:HumansAnimalsCells
    23. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Erratum to: 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 08; 136(8):1009-1011. PMID: 28660352.
      Citations: 2     Fields:    
    24. Szafranski P, Karolak JA, Lanza D, Gajecka M, Heaney J, Stankiewicz P. CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region. Mamm Genome. 2017 Aug; 28(7-8):275-282. PMID: 28405742.
      Citations: 8     Fields:    Translation:HumansAnimalsCells
    25. Szafranski P. Evolutionarily recent, insertional fission of mitochondrial cox2 into complementary genes in bilaterian Metazoa. BMC Genomics. 2017 03 31; 18(1):269. PMID: 28359330.
      Citations: 9     Fields:    Translation:AnimalsCells
    26. Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, 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 04; 136(4):377-386. PMID: 28251352.
      Citations: 18     Fields:    Translation:Humans
    27. Gu S, Szafranski P, Akdemir ZC, Yuan B, Cooper ML, Magriñá MA, Bacino CA, Lalani SR, Breman AM, Smith JL, Patel A, Song RH, Bi W, Cheung SW, Carvalho CM, Stankiewicz P, Lupski JR. Mechanisms for Complex Chromosomal Insertions. PLoS Genet. 2016 Nov; 12(11):e1006446. PMID: 27880765.
      Citations: 23     Fields:    Translation:HumansCells
    28. Dharmadhikari AV, Sun JJ, Gogolewski K, Carofino BL, Ustiyan V, Hill M, Majewski T, Szafranski P, Justice MJ, Ray RS, Dickinson ME, Kalinichenko VV, Gambin A, Stankiewicz P. Lethal lung hypoplasia and vascular defects in mice with conditional Foxf1 overexpression. Biol Open. 2016 Nov 15; 5(11):1595-1606. PMID: 27638768.
      Citations: 8     Fields:    
    29. Szafranski P, Herrera C, Proe LA, Coffman B, Kearney DL, Popek E, Stankiewicz P. Narrowing the FOXF1 distant enhancer region on 16q24.1 critical for ACDMPV. Clin Epigenetics. 2016; 8:112. PMID: 27822317.
      Citations: 12     Fields:    Translation:HumansCells
    30. Macias A, Gambin T, Szafranski P, Jhangiani SN, Kolasa A, Obersztyn E, Lupski JR, Stankiewicz P, Kaminska A. CAV3 mutation in a patient with transient hyperCKemia and myalgia. Neurol Neurochir Pol. 2016 Nov - Dec; 50(6):468-473. PMID: 27772553.
      Citations: 4     Fields:    Translation:Humans
    31. Szafranski P, Coban-Akdemir ZH, Rupps R, Grazioli S, Wensley D, Jhangiani SN, Popek E, Lee AF, Lupski JR, Boerkoel CF, Stankiewicz P. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 09; 170(9):2440-4. PMID: 27374786.
      Citations: 16     Fields:    Translation:HumansCells
    32. Reiter J, Szafranski P, Breuer O, Perles Z, Dagan T, Stankiewicz P, Kerem E. Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family. Pediatr Pulmonol. 2016 09; 51(9):921-7. PMID: 27145217.
      Citations: 6     Fields:    Translation:Humans
    33. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, Surti U, Abellar RG, Bateman DA, Wilson AL, Markham MH, Slamon J, Santos-Simarro F, Palomares M, Nevado J, Lapunzina P, Chung BH, Wong WL, Chu YWY, Mok GTK, Kerem E, Reiter J, Ambalavanan N, Anderson SA, Kelly DR, Shieh J, Rosenthal TC, Scheible K, Steiner L, Iqbal MA, McKinnon ML, Hamilton SJ, Schlade-Bartusiak K, English D, Hendson G, Roeder ER, DeNapoli TS, Littlejohn RO, Wolff DJ, Wagner CL, Yeung A, Francis D, Fiorino EK, Edelman M, Fox J, Hayes DA, Janssens S, De Baere E, Menten B, Loccufier A, Vanwalleghem L, Moerman P, Sznajer Y, Lay AS, Kussmann JL, Chawla J, Payton DJ, Phillips GE, Brosens E, Tibboel D, de Klein A, Maystadt I, Fisher R, Sebire N, Male A, Chopra M, Pinner J, Malcolm G, Peters G, Arbuckle S, Lees M, Mead Z, Quarrell O, Sayers R, Owens M, Shaw-Smith C, Lioy J, McKay E, de Leeuw N, Feenstra I, Spruijt L, Elmslie F, Thiruchelvam T, Bacino CA, Langston C, Lupski JR, Sen P, Popek E, Stankiewicz P. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 May; 135(5):569-586. PMID: 27071622.
      Citations: 37     Fields:    Translation:HumansCells
    34. Prothro SL, Plosa E, Markham M, Szafranski P, Stankiewicz P, Killen SA. Prenatal Diagnosis of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. J Pediatr. 2016 Mar; 170:317-8. PMID: 26703872.
      Citations: 6     Fields:    Translation:Humans
    35. Smyk M, Roeder E, Cheung SW, Szafranski P, Stankiewicz P. A de novo 1.58?Mb deletion, including MAP2K6 and mapping 1.28?Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures. Am J Med Genet A. 2015 Aug; 167A(8):1842-50. PMID: 26059046.
      Citations: 5     Fields:    Translation:Humans
    36. Dharmadhikari AV, Szafranski P, Kalinichenko VV, Stankiewicz P. Genomic and Epigenetic Complexity of the FOXF1 Locus in 16q24.1: Implications for Development and Disease. Curr Genomics. 2015 Apr; 16(2):107-16. PMID: 26085809.
      Citations: 19     
    37. 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 27; 43(4):2188-98. PMID: 25613453.
      Citations: 37     Fields:    Translation:HumansCells
    38. Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P. Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite. BMC Med Genet. 2014 Dec 04; 15:128. PMID: 25472632.
      Citations: 4     Fields:    Translation:HumansAnimalsCells
    39. Szafranski P, Golla S, Jin W, Fang P, Hixson P, Matalon R, Kinney D, Bock HG, Craigen W, Smith JL, Bi W, Patel A, Wai Cheung S, Bacino CA, Stankiewicz P. Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications. Eur J Hum Genet. 2015 Jul; 23(7):915-21. PMID: 25315662.
      Citations: 20     Fields:    Translation:HumansCells
    40. Campbell IM, Yuan B, Robberecht C, Pfundt R, Szafranski P, McEntagart ME, Nagamani SC, Erez A, Bartnik M, Wisniowiecka-Kowalnik B, Plunkett KS, Pursley AN, Kang SH, Bi W, Lalani SR, Bacino CA, Vast M, Marks K, Patton M, Olofsson P, Patel A, Veltman JA, 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 Aug 07; 95(2):173-82. PMID: 25087610.
      Citations: 99     Fields:    Translation:HumansCells
    41. 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 Aug; 164A(8):2013-9. PMID: 24842713.
      Citations: 25     Fields:    Translation:HumansCells
    42. Szafranski P, Von Allmen GK, Graham BH, Wilfong AA, Kang SH, Ferreira JA, Upton SJ, Moeschler JB, Bi W, Rosenfeld JA, Shaffer LG, Wai Cheung S, Stankiewicz P, Lalani SR. 6q22.1 microdeletion and susceptibility to pediatric epilepsy. Eur J Hum Genet. 2015 Feb; 23(2):173-9. PMID: 24824130.
      Citations: 13     Fields:    Translation:HumansCells
    43. Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, Thevananther S, Langston C, Szafranski P, Justice MJ, Kalinichenko VV, Gambin A, Belmont J, Stankiewicz P. Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice. PLoS One. 2014; 9(4):e94390. PMID: 24722050.
      Citations: 14     Fields:    Translation:HumansAnimalsCells
    44. Smyk M, Szafranski P, Startek M, Gambin A, Stankiewicz P. Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res. 2013 Dec; 21(8):781-8. PMID: 24254229.
      Citations: 9     Fields:    Translation:HumansCells
    45. Szafranski P, Yang Y, Nelson MU, Bizzarro MJ, Morotti RA, Langston C, Stankiewicz P. Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Mutat. 2013 Nov; 34(11):1467-71. PMID: 23943206.
      Citations: 14     Fields:    Translation:HumansCells
    46. Dittwald P, Gambin T, Szafranski P, Li J, Amato S, Divon MY, Rodríguez Rojas LX, Elton LE, Scott DA, Schaaf CP, Torres-Martinez W, Stevens AK, Rosenfeld JA, Agadi S, Francis D, 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 Sep; 23(9):1395-409. PMID: 23657883.
      Citations: 60     Fields:    Translation:HumansCells
    47. 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-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. 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 Jun; 34(6):801-11. PMID: 23505205.
      Citations: 48     Fields:    Translation:HumansCells
    48. Witsch J, Szafranski P, Chen CA, Immken L, Simpson Patel G, Hixson P, Cheung SW, Stankiewicz P, Schaaf CP. Intragenic deletions of the IGF1 receptor gene in five individuals with psychiatric phenotypes and developmental delay. Eur J Hum Genet. 2013 Nov; 21(11):1304-7. PMID: 23486542.
      Citations: 3     Fields:    Translation:Humans
    49. 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, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res. 2013 Jan; 23(1):23-33. PMID: 23034409.
      Citations: 69     Fields:    Translation:HumansCells
    50. Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81. PMID: 22929023.
      Citations: 21     Fields:    Translation:HumansCells
    51. 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 01; 21(15):3345-55. PMID: 22543972.
      Citations: 10     Fields:    Translation:HumansCells
    52. Ou Z, Stankiewicz P, Xia Z, Breman AM, Dawson B, Wiszniewska J, Szafranski P, Cooper ML, Rao M, Shao L, South ST, Coleman K, Fernhoff PM, Deray MJ, Rosengren S, Roeder ER, Enciso VB, Chinault AC, Patel A, Kang SH, Shaw CA, Lupski JR, Cheung SW. Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes. Genome Res. 2011 Jan; 21(1):33-46. PMID: 21205869.
      Citations: 42     Fields:    Translation:HumansCells
    53. 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 CA, Patel A, Bocian E, Shaw CA, Cheung SW, Mazurczak T, Stankiewicz P. 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. PMID: 21109226.
      Citations: 34     Fields:    Translation:HumansAnimalsCells
    54. 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 Jul; 31(7):840-50. PMID: 20506139.
      Citations: 67     Fields:    Translation:HumansCells
    55. Szafranski P. The mitochondrial trn-cox1 locus: rapid evolution in Pompilidae and evidence of bias in cox1 initiation and termination codon usage. Mitochondrial DNA. 2009 Feb; 20(1):15-25. PMID: 19565676.
      Citations: 3     Fields:    Translation:AnimalsCells
    56. Zhao M, Szafranski P, Hall CA, Goode S. Basolateral junctions utilize warts signaling to control epithelial-mesenchymal transition and proliferation crucial for migration and invasion of Drosophila ovarian epithelial cells. Genetics. 2008 Apr; 178(4):1947-71. PMID: 18430928.
      Citations: 30     Fields:    Translation:AnimalsCells
    57. Wu L, Yong SL, Fan C, Ni Y, Yoo S, Zhang T, Zhang X, Obejero-Paz CA, Rho HJ, Ke T, Szafranski P, Jones SW, Chen Q, Wang QK. Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J Biol Chem. 2008 Mar 14; 283(11):6968-78. PMID: 18184654.
      Citations: 39     Fields:    Translation:HumansAnimals
    58. Szafranski P, Goode S. Basolateral junctions are sufficient to suppress epithelial invasion during Drosophila oogenesis. Dev Dyn. 2007 Feb; 236(2):364-73. PMID: 17103414.
      Citations: 14     Fields:    Translation:AnimalsCells
    59. Szafranski P, Goode S. A Fasciclin 2 morphogenetic switch organizes epithelial cell cluster polarity and motility. Development. 2004 May; 131(9):2023-36. PMID: 15056617.
      Citations: 17     Fields:    Translation:HumansAnimalsCells
    60. Tian XL, Kadaba R, You SA, Liu M, Timur AA, Yang L, Chen Q, Szafranski P, Rao S, Wu L, Housman DE, DiCorleto PE, Driscoll DJ, Borrow J, Wang Q. Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome. Nature. 2004 Feb 12; 427(6975):640-5. PMID: 14961121.
      Citations: 84     Fields:    Translation:HumansAnimalsCells
    61. Huang JH, Rajkovic A, Szafranski P, Ochsner S, Richards J, Goode S. Expression of Drosophila neoplastic tumor suppressor genes discslarge, scribble, and lethal giant larvae in the mammalian ovary. Gene Expr Patterns. 2003 Mar; 3(1):3-11. PMID: 12609595.
      Citations: 2     Fields:    Translation:HumansAnimals
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