Ewelina M Olech (Ewelina Bukowska-Olech)

Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 22

Top Topics

Autism Spectrum Disorder

Intellectual Disability

Top Venues

Journal of applied genetics

Orphanet journal of rare diseases

Birth defects research

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Ewelina M Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. Journal of applied genetics (2024)
Ewelina M Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. Journal of applied genetics 65 (2) (2024)
Anna Szoszkiewicz, Ewelina M Olech, Aleksander Jamsheer
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions. Orphanet journal of rare diseases 19 (1) (2024)
Anna Szoszkiewicz, Ewelina M Olech, Aleksander Jamsheer
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions. Orphanet journal of rare diseases 19 (1) (2024)
Ewelina M Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. Journal of applied genetics 65 (2) (2024)
Ewelina M Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. Journal of applied genetics 65 (2) (2024)
Ewelina M Olech, Aleksandra Majchrzak-Celińska, Marta Przyborska, Aleksander Jamsheer
Chromatinopathies: insight in clinical aspects and underlying epigenetic changes. Journal of applied genetics 65 (2) (2024)
Anna Szoszkiewicz, Ewelina M Olech, Aleksander Jamsheer
Molecular landscape of congenital vertebral malformations: recent discoveries and future directions. Orphanet journal of rare diseases 19 (1) (2024)
Ewelina M Olech, Anna Sowińska-Seidler, Jolanta Wierzba, Aleksander Jamsheer
SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably. Orphanet journal of rare diseases 17 (1) (2022)
Barbara Biedziak, Justyna Dąbrowska, Anna Szponar-Żurowska, Ewelina M Olech, Aleksander Jamsheer, Marek Ruchala, Jennifer Gladys Mulle, Ploski Rafal, Adrianna Mostowska
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing. American journal of medical genetics. Part A (2022)
Mateusz Dawidziuk, Anna Kutkowska-Kaźmierczak, Ewelina M Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesińska-Figatowska, Jerzy Bal, Paweł Gawliński
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome. International journal of molecular sciences 23 (2) (2022)
Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora, Marta Pawlak, Ewelina M Olech, Bartłomiej Kopaczewski, Agnieszka Urzykowska, Heleen H Arts, Anna Gotz-Więckowska, Ryszard Grenda, Anna Latos-Bieleńska, Renata Glazar
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy. American journal of medical genetics. Part A 188 (10) (2022)
Jacob W P Potuijt, Anna Sowinska-Seidler, Ewelina M Olech, Picard Nguyen, Aleksander Jankowski, Frank Magielsen, Karolina Matuszewska, Christianne A van Nieuwenhoven, Robert-Jan H Galjaard, Annelies de Klein, Aleksander Jamsheer
The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions. Molecular genetics and genomics : MGG 297 (5) (2022)
Ewelina M Olech, Paweł Gawliński, Anna Jakubiuk-Tomaszuk, Maria Jędrzejowska, Ewa Obersztyn, Michał Piechota, Marta Bielska, Aleksander Jamsheer
Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene. Orphanet journal of rare diseases 16 (1) (2021)
Dawid Szczepankiewicz, Piotr Celichowski, Paweł Antoni Kołodziejski, Ewa Pruszyńska-Oszmałek, Maciej Sassek, Przemysław Zakowicz, Ewa Banach, Wojciech Langwinski, Kosma Sakrajda, Joanna Nowakowska, Magdalena Socha, Ewelina M Olech, Joanna Pawlak, Joanna Twarowska-Hauser, Leszek Nogowski, Janusz K Rybakowski, Aleksandra Szczepankiewicz
Transcriptome Changes in Three Brain Regions during Chronic Lithium Administration in the Rat Models of Mania and Depression. International journal of molecular sciences 22 (3) (2021)
Mateusz Dawidziuk, Tomasz Gambin, Ewelina M Olech, Dorota Antczak-Marach, Magdalena Badura-Stronka, Piotr Buda, Edyta Budzynska, Jennifer Castaneda, Tatiana Chilarska, Elzbieta Czyzyk, Anna Eckersdorf-Mastalerz, Jolanta Fijak-Moskal, Dorota Gieruszczak-Bialek, Ewelina Glodek-Brzozowska, Alicja Goszczanska-Ciuchta, Malgorzata Grzeszykowska-Podymniak, Barbara Gurda, Anna Jakubiuk-Tomaszuk, Ewa Jamroz, Magdalena Janeczko, Dominika Jedlińska-Pijanowska, Marta Jurek, Dagmara Karolewska, Adela Kazmierczak, Teresa Kleist, Iwona Kochanowska, Malgorzata Krajewska-Walasek, Katarzyna Kufel, Anna Kutkowska-Kaźmierczak, Agata Lipiec, Dorota Maksym-Gasiorek, Anna Materna-Kiryluk, Hanna Mazurkiewicz, Michał Milewski, Tatsiana Pavina-Guglas, Aleksandra Pietrzyk, Renata Posmyk, Antoni Pyrkosz, Mariola Rudzka-Dybala, Ryszard Slezak, Marzena Wisniewska, Zofia Zalewska-Miszkurka, Elzbieta Szczepanik, Ewa Obersztyn, Monika Bekiesińska-Figatowska, Paweł Gawliński, Wojciech Wiszniewski
Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly. Genes 12 (12) (2021)
Monika Dmitrzak-Węglarz, Aleksandra Szczepankiewicz, Janusz K Rybakowski, Paweł Kapelski, Karolina Bilska, Maria Skibińska, Edyta Reszka, Monika Lesicka, Ewa Jabłońska, Edyta Wieczorek, Ewelina M Olech, Joanna M Pawlak
Transcriptomic profiling as biological markers of depression - A pilot study in unipolar and bipolar women. The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry 22 (10) (2021)
Ewelina M Olech, Anna Sowinska-Seidler, Krzysztof Szczaluba, Aleksander Jamsheer
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. Birth defects research 112 (9) (2020)
Ewelina M Olech, Delfina Popiel, Grzegorz Koczyk, Anna Sowinska-Seidler, Magdalena Socha, Bartosz Wojciechowicz, Adam Dawidziuk, Dawid Larysz, Aleksander Jamsheer
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis. Scientific reports 10 (1) (2020)
Ewelina M Olech, Anna Sowinska-Seidler, Filip Łojek, Delfina Popiel, Joanna Walczak-Sztulpa, Aleksander Jamsheer
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review. Journal of applied genetics 62 (1) (2020)
Ewelina M Olech, Monika Dmitrzak-Węglarz, Dawid Larysz, Bartosz Wojciechowicz, Dorota Simon, Joanna Walczak-Sztulpa, Aleksander Jamsheer
Compound craniosynostosis, intellectual disability, and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion. Birth defects research 112 (10) (2020)
Ewa Hordyjewska-Kowalczyk, Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Renata Glazar, Anna Kruczek, Anna Latos-Bieleńska, Przemko Tylzanowski, Aleksander Jamsheer
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia. Clinical genetics 96 (5) (2019)