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Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia.
Kozłowska Z, Owsiańska Z, Wroblewska JP, Kałużna A, Marszałek A, Singh Y, Mroziński B, Liu Q, Karolak JA, Stankiewicz P, Deutsch G, Szymankiewicz-Bręborowicz M, Szczapa T. Kozłowska Z, et al. Among authors: karolak ja. BMC Pediatr. 2020 Jun 29;20(1):320. doi: 10.1186/s12887-020-02200-y. BMC Pediatr. 2020. PMID: 32600276 Free PMC article.
Evidence against ZNF469 being causative for keratoconus in Polish patients.
Karolak JA, Gambin T, Rydzanicz M, Szaflik JP, Polakowski P, Frajdenberg A, Mrugacz M, Podfigurna-Musielak M, Stankiewicz P, Gajecka M. Karolak JA, et al. Acta Ophthalmol. 2016 May;94(3):289-94. doi: 10.1111/aos.12968. Epub 2016 Jan 25. Acta Ophthalmol. 2016. PMID: 26806788 Free article.
LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV.
Szafranski P, Kośmider 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. Szafranski P, et al. Among authors: karolak ja. Hum Mutat. 2018 Dec;39(12):1916-1925. doi: 10.1002/humu.23608. Epub 2018 Aug 22. Hum Mutat. 2018. PMID: 30084155 Free PMC article.
Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
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 3rd, 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. Karolak JA, et al. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. Am J Hum Genet. 2019. PMID: 30639323 Free PMC article.
Novel parent-of-origin-specific differentially methylated loci on chromosome 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. Schulze KV, et al. Among authors: karolak ja. Clin Epigenetics. 2019 Apr 8;11(1):60. doi: 10.1186/s13148-019-0655-8. Clin Epigenetics. 2019. PMID: 30961659 Free PMC article.
A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins.
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. Karolak JA, et al. Am J Med Genet A. 2019 Nov;179(11):2272-2276. doi: 10.1002/ajmg.a.61338. Epub 2019 Aug 22. Am J Med Genet A. 2019. PMID: 31436901 Free PMC article.
53 results