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JUSTYNA KAROLAK

TitlePostdoc Fellows and Associates
InstitutionBaylor College of Medicine
DepartmentPostDoc
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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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    1. 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 Nov; 179(11):2272-2276. PMID: 31436901.
      View in: PubMed
    2. 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 Oct; 96(4):366-370. PMID: 31309540.
      View in: PubMed
    3. 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 Jun 12. PMID: 31189067.
      View in: PubMed
    4. 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.
      View in: PubMed
    5. Kabza M, Karolak JA, Rydzanicz M, Udziela M, Gasperowicz P, Ploski R, Szaflik JP, Gajecka M. Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci. Invest Ophthalmol Vis Sci. 2019 04 01; 60(5):1501-1509. PMID: 30994860.
      View in: PubMed
    6. Vishweswaraiah S, Swierkowska J, Ratnamala U, Mishra NK, Guda C, Chettiar SS, Johar KR, Mrugacz M, Karolak JA, Gajecka M, Radhakrishna U. Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia. Sci Rep. 2019 Mar 11; 9(1):4145. PMID: 30858441.
      View in: PubMed
    7. 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 Feb 07; 104(2):213-228. PMID: 30639323.
      View in: PubMed
    8. 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.
      View in: PubMed
    9. 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.
      View in: PubMed
    10. Kabza M, Karolak JA, Rydzanicz M, Szczesniak MW, Nowak DM, Ginter-Matuszewska B, Polakowski P, Ploski R, Szaflik JP, Gajecka M. Collagen synthesis disruption and downregulation of core elements of TGF-ß, Hippo, and Wnt pathways in keratoconus corneas. Eur J Hum Genet. 2017 05; 25(5):582-590. PMID: 28145428.
      View in: PubMed
    11. Szczesniak MW, Kabza M, Karolak JA, Rydzanicz M, Nowak DM, Ginter-Matuszewska B, Polakowski P, Ploski R, Szaflik JP, Gajecka M. KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas. Database (Oxford). 2017; 2017. PMID: 28077570.
      View in: PubMed
    12. Karolak JA, Gajecka M. Genomic strategies to understand causes of keratoconus. Mol Genet Genomics. 2017 Apr; 292(2):251-269. PMID: 28032277.
      View in: PubMed
    13. Karolak JA, Gambin T, Pitarque JA, Molinari A, Jhangiani S, Stankiewicz P, Lupski JR, Gajecka M. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2016 01; 25(1):73-78. PMID: 27703147.
      View in: PubMed
    14. Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M. Evidence against ZNF469 being causative for keratoconus in Polish patients. Acta Ophthalmol. 2016 May; 94(3):289-94. PMID: 26806788.
      View in: PubMed
    15. Karolak JA, Rydzanicz M, Ginter-Matuszewska B, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family. Invest Ophthalmol Vis Sci. 2015 Dec; 56(13):7687-90. PMID: 26641546.
      View in: PubMed
    16. Karolak JA, Polakowski P, Szaflik J, Szaflik JP, Gajecka M. Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification. Ophthalmic Genet. 2016; 37(1):37-43. PMID: 24940934.
      View in: PubMed
    17. Nowak DM, Karolak JA, Kubiak J, Gut M, Pitarque JA, Molinari A, Bejjani BA, Gajecka M. Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus. Invest Ophthalmol Vis Sci. 2013 Mar 01; 54(3):2207-15. PMID: 23462747.
      View in: PubMed
    18. Czugala M, Karolak JA, Nowak DM, Polakowski P, Pitarque J, Molinari A, Rydzanicz M, Bejjani BA, Yue BY, Szaflik JP, Gajecka M. Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. Eur J Hum Genet. 2012 Apr; 20(4):389-97. PMID: 22045297.
      View in: PubMed
    19. Rydzanicz M, Nowak DM, Karolak JA, Frajdenberg A, Podfigurna-Musielak M, Mrugacz M, Gajecka M. IGF-1 gene polymorphisms in Polish families with high-grade myopia. Mol Vis. 2011; 17:2428-39. PMID: 21976954.
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    20. Rosenfeld JA, Drautz JM, Clericuzio CL, Cushing T, Raskin S, Martin J, Tervo RC, Pitarque JA, Nowak DM, Karolak JA, Lamb AN, Schultz RA, Ballif BC, Bejjani BA, Gajecka M, Shaffer LG. Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes. Am J Med Genet A. 2011 Aug; 155A(8):1906-16. PMID: 21744490.
      View in: PubMed
    21. Karolak JA, Kulinska K, Nowak DM, Pitarque JA, Molinari A, Rydzanicz M, Bejjani BA, Gajecka M. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. Mol Vis. 2011 Mar 30; 17:827-43. PMID: 21527998.
      View in: PubMed
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