| Hereditary multiple exostoses—a review of the molecular background, diagnostics, and potential therapeutic strategies E Bukowska-Olech, W Trzebiatowska, W Czech, O Drzymała, P Frąk, ... Frontiers In Genetics 12, 759129, 2021 | 40 | 2021 |
| The pediatric common variable immunodeficiency—from genetics to therapy: A review A Szczawinska-Poplonyk, E Schwartzmann, E Bukowska-Olech, ... European Journal of Pediatrics, 1-13, 2022 | 27 | 2022 |
| Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency A Jamsheer, EM Olech, K Kozłowski, M Niedziela, A Sowińska-Seidler, ... Journal of human genetics 61 (7), 577-583, 2016 | 26 | 2016 |
| Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia E Hordyjewska‐Kowalczyk, A Sowińska‐Seidler, EM Olech, M Socha, ... Clinical Genetics 96 (5), 429-438, 2019 | 22 | 2019 |
| Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous … A Jamsheer, A Sowińska-Seidler, EM Olech, M Socha, K Kozłowski, ... Journal of human genetics 61 (5), 457-461, 2016 | 21 | 2016 |
| Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease J Walczak-Sztulpa, R Posmyk, EM Bukowska-Olech, A Wawrocka, ... Orphanet Journal of Rare Diseases 15, 1-10, 2020 | 19 | 2020 |
| Transcriptomic profiling as biological markers of depression–a pilot study in unipolar and bipolar women M Dmitrzak-Weglarz, A Szczepankiewicz, J Rybakowski, P Kapelski, ... The World Journal of Biological Psychiatry 22 (10), 744-756, 2021 | 17 | 2021 |
| SEMA3A and IGSF10 are novel contributors to combined pituitary hormone deficiency (CPHD) B Budny, T Zemojtel, M Kaluzna, P Gut, M Niedziela, M Obara-Moszynska, ... Frontiers in Endocrinology 11, 368, 2020 | 16 | 2020 |
| Hyperosmia, ectrodactyly, mild intellectual disability, and other defects in a male patient with an X-linked partial microduplication and overexpression of the KAL1 gene A Sowińska-Seidler, M Piwecka, E Olech, M Socha, A Latos-Bieleńska, ... Journal of Applied Genetics 56, 177-184, 2015 | 16 | 2015 |
| Exome sequencing reveals novel variants and expands the genetic landscape for congenital microcephaly M Dawidziuk, T Gambin, E Bukowska-Olech, D Antczak-Marach, ... Genes 12 (12), 2014, 2021 | 14 | 2021 |
| Targeted next-generation sequencing in the diagnosis of facial dysostoses E Bukowska-Olech, A Materna-Kiryluk, J Walczak-Sztulpa, D Popiel, ... Frontiers in Genetics 11, 580477, 2020 | 14 | 2020 |
| Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review E Bukowska-Olech, A Sowińska-Seidler, F Łojek, D Popiel, ... Journal of Applied Genetics 62 (1), 107-113, 2021 | 12 | 2021 |
| Novel 1q22-q23. 1 duplication in a patient with lambdoid and metopic craniosynostosis, muscular hypotonia, and psychomotor retardation A Sowińska-Seidler, EM Olech, M Socha, D Larysz, A Jamsheer Journal of applied genetics 59, 281-289, 2018 | 11 | 2018 |
| Identical IFT140 variants cause variable skeletal ciliopathy phenotypes—challenges for the accurate diagnosis J Walczak-Sztulpa, A Wawrocka, C Doornbos, R Van Beek, ... Frontiers in Genetics 13, 931822, 2022 | 10 | 2022 |
| Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35 J Walczak‐Sztulpa, A Wawrocka, M Stańczyk, K Pesz, L Dudarewicz, ... American Journal of Medical Genetics Part A 185 (4), 1195-1203, 2021 | 10 | 2021 |
| The first report of biallelic missense mutations in the SFRP4 gene causing Pyle disease in two siblings A Sowińska-Seidler, P Sztromwasser, K Zawadzka, D Sielski, ... Frontiers in Genetics 11, 593407, 2020 | 9 | 2020 |
| Novel mutations within collagen alpha1 (I) and alpha2 (I) ligand-binding sites, broadening the spectrum of osteogenesis imperfecta–current insights into collagen type I lethal … K Sałacińska, I Pinkier, L Rutkowska, D Chlebna-Sokół, ... Frontiers in Genetics 12, 692978, 2021 | 8 | 2021 |
| Transcriptome changes in three brain regions during chronic lithium administration in the rat models of mania and depression D Szczepankiewicz, P Celichowski, PA Kołodziejski, ... International Journal of Molecular Sciences 22 (3), 1148, 2021 | 8 | 2021 |
| Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35 J Walczak‐Sztulpa, A Wawrocka, B Leszczynska, B Mikulska, HH Arts, ... American Journal of Medical Genetics Part A 182 (10), 2417-2425, 2020 | 8 | 2020 |
| Poznan University of Medical Sciences E Bukowska-Olech Poland, 0 | 8 | |