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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Dawidziuk M, Gambin T, Bukowska-Olech E, Antczak-Marach D, Badura-Stronka M, Buda P, Budzynska E, Castaneda J, Chilarska T, Czyzyk E, Eckersdorf-Mastalerz A, Fijak-Moskal J, Gieruszczak-Bialek D, Glodek-Brzozowska E, Goszczanska-Ciuchta A, Grzeszykowska-Podymniak M, Gurda B, Jakubiuk-Tomaszuk A, Jamroz E, Janeczko M, Jedlińska-Pijanowska D, Jurek M, Karolewska D, Kazmierczak A, Kleist T, Kochanowska I, Krajewska-Walasek M, Kufel K, Kutkowska-Kaźmierczak A, Lipiec A, Maksym-Gasiorek D, Materna-Kiryluk A, Mazurkiewicz H, Milewski M, Pavina-Guglas T, Pietrzyk A, Posmyk R, Pyrkosz A, Rudzka-Dybala M, Slezak R, Wisniewska M, Zalewska-Miszkurka Z, Szczepanik E, Obersztyn E, Bekiesinska-Figatowska M, Gawlinski P, Wiszniewski W. Dawidziuk M, et al. Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014. Genes (Basel). 2021. PMID: 34946966 Free PMC article.
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses.
Bukowska-Olech E, Materna-Kiryluk A, Walczak-Sztulpa J, Popiel D, Badura-Stronka M, Koczyk G, Dawidziuk A, Jamsheer A. Bukowska-Olech E, et al. Front Genet. 2020 Nov 11;11:580477. doi: 10.3389/fgene.2020.580477. eCollection 2020. Front Genet. 2020. PMID: 33262786 Free PMC article.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Stańczyk M, Pesz K, Dudarewicz L, Chrul S, Bukowska-Olech E, Wieczorek-Cichecka N, Arts HH, Oud MM, Śmigiel R, Grenda R, Obersztyn E, Chrzanowska KH, Latos-Bieleńska A. Walczak-Sztulpa J, et al. Am J Med Genet A. 2021 Apr;185(4):1195-1203. doi: 10.1002/ajmg.a.62067. Epub 2021 Jan 9. Am J Med Genet A. 2021. PMID: 33421337
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E, Sowińska-Seidler A, Larysz D, Gawliński P, Koczyk G, Popiel D, Gurba-Bryśkiewicz L, Materna-Kiryluk A, Adamek Z, Szczepankiewicz A, Dominiak P, Glista F, Matuszewska K, Jamsheer A. Bukowska-Olech E, et al. Front Mol Biosci. 2022 Apr 28;9:865494. doi: 10.3389/fmolb.2022.865494. eCollection 2022. Front Mol Biosci. 2022. PMID: 35591945 Free PMC article.
Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.
Walczak-Sztulpa J, Wawrocka A, Doornbos C, van Beek R, Sowińska-Seidler A, Jamsheer A, Bukowska-Olech E, Latos-Bieleńska A, Grenda R, Bongers EMHF, Schmidts M, Obersztyn E, Krawczyński MR, Oud MM. Walczak-Sztulpa J, et al. Among authors: bukowska olech e. Front Genet. 2022 Jul 7;13:931822. doi: 10.3389/fgene.2022.931822. eCollection 2022. Front Genet. 2022. PMID: 35873489 Free PMC article.
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B, Zemojtel T, Kaluzna M, Gut P, Niedziela M, Obara-Moszynska M, Rabska-Pietrzak B, Karmelita-Katulska K, Stajgis M, Ambroziak U, Bednarczuk T, Wrotkowska E, Bukowska-Olech E, Jamsheer A, Ruchala M, Ziemnicka K. Budny B, et al. Front Endocrinol (Lausanne). 2020 Jun 16;11:368. doi: 10.3389/fendo.2020.00368. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32612575 Free PMC article.
33 results