| Monosomy 1p36 deletion syndrome M Gajecka, KL Mackay, LG Shaffer American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2007 | 232 | 2007 |
| CYP1A1, CYP2D6, CYP2E1, NAT2, GSTM1 and GSTT1 polymorphisms or their combinations are associated with the increased risk of the laryngeal squamous cell carcinoma M Gajecka, M Rydzanicz, R Jaskula-Sztul, M Kujawski, W Szyfter, ... Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 574 (1 …, 2005 | 148 | 2005 |
| Unrevealed mosaicism in the next-generation sequencing era M Gajecka Molecular genetics and genomics 291, 513-530, 2016 | 147 | 2016 |
| The genetics of keratoconus DM Nowak, M Gajecka Middle East African journal of ophthalmology 18 (1), 2-6, 2011 | 135 | 2011 |
| Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32 M Gajecka, U Radhakrishna, D Winters, SK Nath, M Rydzanicz, ... Investigative ophthalmology & visual science 50 (4), 1531-1539, 2009 | 133 | 2009 |
| Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36. 3, 2p16. 1–p23. 1, 4q21. 21–q22. 1, 6q26–q27, and 21q2 WB Dobyns, G Mirzaa, SL Christian, K Petras, J Roseberry, GD Clark, ... American journal of medical genetics Part A 146 (13), 1637-1654, 2008 | 121 | 2008 |
| Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus M Czugala, JA Karolak, DM Nowak, P Polakowski, J Pitarque, A Molinari, ... European Journal of Human Genetics 20 (4), 389-397, 2012 | 104 | 2012 |
| Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function AR Paciorkowski, LL Thio, JA Rosenfeld, M Gajecka, CA Gurnett, ... European Journal of Human Genetics 19 (12), 1238-1245, 2011 | 101 | 2011 |
| Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas M Kabza, JA Karolak, M Rydzanicz, MW Szcześniak, DM Nowak, ... European Journal of Human Genetics 25 (5), 582-590, 2017 | 83 | 2017 |
| Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure M Gajecka, W Yu, BC Ballif, CD Glotzbach, KA Bailey, CA Shaw, ... European Journal of Human Genetics 13 (2), 139-149, 2005 | 82 | 2005 |
| Reduced DNA repair capacity in laryngeal cancer subjects M Gajecka, M Rydzanicz, R Jaskula-Sztul, M Wierzbicka, W Szyfter, ... Current Research in Head and Neck Cancer 62, 25-37, 2005 | 64 | 2005 |
| Translocation breakpoint mapping and sequence analysis in three monosomy 1p36 subjects with der (1) t (1; 1)(p36; q44) suggest mechanisms for telomere capture in stabilizing de … BC Ballif, K Wakui, M Gajecka, LG Shaffer Human genetics 114, 198-206, 2004 | 63 | 2004 |
| Genomic strategies to understand causes of keratoconus JA Karolak, M Gajecka Molecular Genetics and Genomics 292, 251-269, 2017 | 54 | 2017 |
| Molecular screening of keratoconus susceptibility sequence variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 genes in polish patients and novel TGFBI variant identification JA Karolak, P Polakowski, J Szaflik, JP Szaflik, M Gajecka Ophthalmic genetics 37 (1), 37-43, 2016 | 53 | 2016 |
| Is the role of human female reproductive tract microbiota underestimated? D Kamińska, M Gajecka Beneficial Microbes 8 (3), 327-343, 2017 | 52 | 2017 |
| Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus DM Nowak, JA Karolak, J Kubiak, M Gut, JA Pitarque, A Molinari, ... Investigative ophthalmology & visual science 54 (3), 2207-2215, 2013 | 47 | 2013 |
| Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus JA Karolak, K Kulinska, DM Nowak, JA Pitarque, A Molinari, M Rydzanicz, ... Molecular vision 17, 827, 2011 | 45 | 2011 |
| Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes JA Rosenfeld, JM Drautz, CL Clericuzio, T Cushing, S Raskin, J Martin, ... American journal of medical genetics Part A 155 (8), 1906-1916, 2011 | 43 | 2011 |
| Polymorphisms of DNA repair genes and risk of squamous cell carcinoma of the head and neck in young adults M Kostrzewska-Poczekaj, W Gawęcki, J Illmer, M Rydzanicz, M Gajecka, ... European Archives of Oto-Rhino-Laryngology 270, 271-276, 2013 | 40 | 2013 |
| Recurrent interstitial 1p36 deletions: Evidence for germline mosaicism and complex rearrangement breakpoints M Gajecka, SC Saitta, AJ Gentles, L Campbell, K Ciprero, E Geiger, ... American Journal of Medical Genetics Part A 152 (12), 3074-3083, 2010 | 39 | 2010 |
