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Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
Murcia Pienkowski V, Kucharczyk M, Młynek M, Szczałuba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosińska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Śmigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Płoski R. Murcia Pienkowski V, et al. Among authors: sykulski m. J Med Genet. 2019 Feb;56(2):104-112. doi: 10.1136/jmedgenet-2018-105527. Epub 2018 Oct 23. J Med Genet. 2019. PMID: 30352868
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Wiśniowiecka-Kowalnik B, Kastory-Bronowska M, Bartnik M, Derwińska K, Dymczak-Domini W, Szumbarska D, Ziemka E, Szczałuba K, Sykulski M, Gambin T, Gambin A, Shaw CA, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Wiśniowiecka-Kowalnik B, et al. Among authors: sykulski m. Eur J Hum Genet. 2013 Jun;21(6):620-5. doi: 10.1038/ejhg.2012.219. Epub 2012 Oct 3. Eur J Hum Genet. 2013. PMID: 23032108 Free PMC article.
Application of array comparative genomic hybridization in 256 patients with developmental delay or intellectual disability.
Bartnik M, Nowakowska B, Derwińska K, Wiśniowiecka-Kowalnik B, Kędzior M, Bernaciak J, Ziemkiewicz K, Gambin T, Sykulski M, Bezniakow N, Korniszewski L, Kutkowska-Kaźmierczak A, Klapecki J, Szczałuba K, Shaw CA, Mazurczak T, Gambin A, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: sykulski m. J Appl Genet. 2014 Feb;55(1):125-44. doi: 10.1007/s13353-013-0181-x. Epub 2013 Dec 3. J Appl Genet. 2014. PMID: 24297458 Free PMC article.
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Bartnik M, Szczepanik E, Derwińska K, Wiśniowiecka-Kowalnik B, Gambin T, Sykulski M, Ziemkiewicz K, Kędzior M, Gos M, Hoffman-Zacharska D, Mazurczak T, Jeziorek A, Antczak-Marach D, Rudzka-Dybała M, Mazurkiewicz H, Goszczańska-Ciuchta A, Zalewska-Miszkurka Z, Terczyńska I, Sobierajewicz M, Shaw CA, Gambin A, Mierzewska H, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Bartnik M, et al. Among authors: sykulski m. Am J Med Genet B Neuropsychiatr Genet. 2012 Oct;159B(7):760-71. doi: 10.1002/ajmg.b.32081. Epub 2012 Jul 23. Am J Med Genet B Neuropsychiatr Genet. 2012. PMID: 22825934
Assessment of the role of copy-number variants in 150 patients with congenital heart defects.
Derwińska K, Bartnik M, Wiśniowiecka-Kowalnik B, Jagła M, Rudziński A, Pietrzyk JJ, Kawalec W, Ziółkowska L, Kutkowska-Kaźmierczak A, Gambin T, Sykulski M, Shaw CA, Gambin A, Mazurczak T, Obersztyn E, Bocian E, Stankiewicz P. Derwińska K, et al. Among authors: sykulski m. Med Wieku Rozwoj. 2012 Jul-Sep;16(3):175-82. Med Wieku Rozwoj. 2012. PMID: 23378395
Functional performance of aCGH design for clinical cytogenetics.
Gambin T, Stankiewicz P, Sykulski M, Gambin A. Gambin T, et al. Among authors: sykulski m. Comput Biol Med. 2013 Jul;43(6):775-85. doi: 10.1016/j.compbiomed.2013.02.008. Epub 2013 Mar 16. Comput Biol Med. 2013. PMID: 23668354
Multiple samples aCGH analysis for rare CNVs detection.
Sykulski M, Gambin T, Bartnik M, Derwińska K, Wiśniowiecka-Kowalnik B, Stankiewicz P, Gambin A. Sykulski M, et al. J Clin Bioinforma. 2013 Jun 11;3(1):12. doi: 10.1186/2043-9113-3-12. J Clin Bioinforma. 2013. PMID: 23758813 Free PMC article.
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