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Page 1
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LTN, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Stray-Pedersen A, et al. Among authors: gambin t. J Allergy Clin Immunol. 2017 Jan;139(1):232-245. doi: 10.1016/j.jaci.2016.05.042. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27577878 Free PMC article.
Detection of clinically relevant exonic copy-number changes by array CGH.
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 M, Bartnik M, Derwinska K, Wisniowiecka-Kowalnik B, Lalani SR, Probst FJ, Bi W, Beaudet AL, Patel A, Lupski JR, Cheung SW, Stankiewicz P. Boone PM, et al. Among authors: gambin t. Hum Mutat. 2010 Dec;31(12):1326-42. doi: 10.1002/humu.21360. Epub 2010 Nov 2. Hum Mutat. 2010. PMID: 20848651 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: gambin t, gambin a. 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
Inverted low-copy repeats and genome instability--a genome-wide analysis.
Dittwald P, Gambin T, Gonzaga-Jauregui C, Carvalho CM, Lupski JR, Stankiewicz P, Gambin A. Dittwald P, et al. Among authors: gambin t, gambin a. Hum Mutat. 2013 Jan;34(1):210-20. doi: 10.1002/humu.22217. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22965494 Free PMC article.
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: gambin t, gambin a. 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.
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: gambin t, gambin a. Med Wieku Rozwoj. 2012 Jul-Sep;16(3):175-82. Med Wieku Rozwoj. 2012. PMID: 23378395
Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability.
Harris RA, Shaw C, Li J, Cheung SW, Coarfa C, Jeong M, Goodell MA, White LD, Patel A, Kang SH, Chinault AC, Gambin T, Gambin A, Lupski JR, Milosavljevic A. Harris RA, et al. Among authors: gambin t, gambin a. PLoS Genet. 2013;9(2):e1003333. doi: 10.1371/journal.pgen.1003333. Epub 2013 Feb 28. PLoS Genet. 2013. PMID: 23468659 Free PMC article. No abstract available.
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
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. Dittwald P, et al. Among authors: gambin t, gambin a. Genome Res. 2013 Sep;23(9):1395-409. doi: 10.1101/gr.152454.112. Epub 2013 May 8. Genome Res. 2013. PMID: 23657883 Free PMC article.
124 results