Unrevealed mosaicism in the next-generation sequencing era

Por Gajecka, Marzena
Publicado no Mol Genet Genomics (2015)

The Genetics of Keratoconus

Por Nowak, Dorota M., Gajecka, Marzena
Publicado em 2011

Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci

Por Nowak, Dorota M., Gajecka, Marzena
Publicado no PLoS One (2015)

Genomic strategies to understand causes of keratoconus

Por Karolak, Justyna A., Gajecka, Marzena
Publicado no Mol Genet Genomics (2016)

IGF-1 gene polymorphisms in Polish families with high-grade myopia

Por Rydzanicz, Malgorzata, Nowak, Dorota M., Karolak, Justyna A., Frajdenberg, Agata, Podfigurna-Musielak, Monika, Mrugacz, Malgorzata, Gajecka, Marzena
Publicado em 2011

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Por Karolak, Justyna A, Gambin, Tomasz, Pitarque, Jose A, Molinari, Andrea, Jhangiani, Shalini, Stankiewicz, Pawel, Lupski, James R, Gajecka, Marzena
Publicado no Eur J Hum Genet (2016)

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

Por Karolak, Justyna A., Kulinska, Karolina, Nowak, Dorota M., Pitarque, Jose A., Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A., Gajecka, Marzena
Publicado em 2011

Unexpected complexity at breakpoint junctions in phenotypically normal individuals and mechanisms involved in generating balanced translocations t(1;22)(p36;q13)

Por Gajecka, Marzena, Gentles, Andrew J., Tsai, Albert, Chitayat, David, Mackay, Katherine L., Glotzbach, Caron D., Lieber, Michael R., Shaffer, Lisa G.
Publicado em 2008

A Combined Metabolomic and Proteomic Analysis of Gestational Diabetes Mellitus

Por Hajduk, Joanna, Klupczynska, Agnieszka, Dereziński, Paweł, Matysiak, Jan, Kokot, Piotr, Nowak, Dorota M., Gajęcka, Marzena, Nowak-Markwitz, Ewa, Kokot, Zenon J.
Publicado no Int J Mol Sci (2015)

Polymorphism of the DNA repair genes RAD51 and XRCC2 in smoking- and drinking-related laryngeal cancer in a Polish population

Por Romanowicz-Makowska, Hanna, Smolarz, Beata, Gajęcka, Marzena, Kiwerska, Katarzyna, Rydzanicz, Malgorzata, Kaczmarczyk, Dariusz, Olszewski, Jurek, Szyfter, Krzysztof, Błasiak, Janusz, Morawiec-Sztandera, Alina
Publicado em 2012

Recurrent interstitial 1p36 deletions: evidence for germline mosaicism and complex rearrangement breakpoints

Por Gajecka, Marzena, Saitta, Sulagna C., Gentles, Andrew J., Campbell, Lindsey, Ciprero, Karen, Geiger, Elizabeth, Catherwood, Anne, Rosenfeld, Jill A., Shaikh, Tamim, Shaffer, Lisa G.
Publicado em 2010

Identification of novel suggestive loci for high-grade myopia in Polish families

Por Rydzanicz, Malgorzata, Nath, Swapan K., Sun, Celi, Podfigurna-Musielak, Monika, Frajdenberg, Agata, Mrugacz, Malgorzata, Winters, Daniel, Ratnamala, Uppala, Radhakrishna, Uppala, Bejjani, Bassem A., Gajecka, Marzena
Publicado em 2011

KTCNlncDB—a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas

Por Szcześniak, Michał W., Kabza, Michal, Karolak, Justyna A., Rydzanicz, Malgorzata, Nowak, Dorota M., Ginter-Matuszewska, Barbara, Polakowski, Piotr, Ploski, Rafal, Szaflik, Jacek P., Gajecka, Marzena
Publicado no Database (Oxford) (2017)

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

Por Czugala, Marta, Karolak, Justyna A, Nowak, Dorota M, Polakowski, Piotr, Pitarque, Jose, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Yue, Beatrice Y J T, Szaflik, Jacek P, Gajecka, Marzena
Publicado em 2012

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Por Gajecka, Marzena, Radhakrishna, Uppala, Winters, Daniel, Nath, Swapan K., Rydzanicz, Malgorzata, Ratnamala, Uppala, Ewing, Kimberly, Molinari, Andrea, Pitarque, Jose A., Lee, Kwanghyuk, Leal, Suzanne M., Bejjani, Bassem A.
Publicado no Invest Ophthalmol Vis Sci (2008)

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

Por Paciorkowski, Alex R, Thio, Liu Lin, Rosenfeld, Jill A, Gajecka, Marzena, Gurnett, Christina A, Kulkarni, Shashikant, Chung, Wendy K, Marsh, Eric D, Gentile, Mattia, Reggin, James D, Wheless, James W, Balasubramanian, Sandhya, Kumar, Ravinesh, Christian, Susan L, Marini, Carla, Guerrini, Renzo, Maltsev, Natalia, Shaffer, Lisa G, Dobyns, William B
Publicado em 2011

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27 and 21q2

Por Dobyns, William B., Mirzaa, Ghayda, Christian, Susan L., Petras, Kristin, Roseberry, Jessica, Clark, Gary D., Curry, Cynthia J.R., McDonald-McGinn, Donna, Medne, Livija, Zackai, Elaine, Parsons, Julie, Zand, Dina J., Hisama, Fuki M., Walsh, Christopher A., Leventer, Richard J., Martin, Christa L., Gajecka, Marzena, Shaffer, Lisa G.
Publicado em 2008