Aleksander Jamsheer

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 27

Top Venues

Journal of applied genetics

Scientific reports

Orphanet journal of rare diseases

Birth defects research

Poznan University of Medical Sciences (PHD)

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

Education History

Poznan University of Medical Sciences Jan 01 2008

Poland

PHD :: Department of Medical Genetics

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)
Barbara Mirska, Michal Zenczak, Katarzyna Nowis, Ireneusz Stolarek, Jan Podkowiński, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Natalia Koralewska, Pawel Zmora, Elzbieta Lenartowicz, Marcin Osuch, Katarzyna Łasińska, Jadwiga Kuczma-Napierała, Marcelina Maria Jaworska, Łukasz Madej, Marzena Ciechomska, Aleksander Jamsheer, Krzysztof Kurowski, Marek Figlerowicz, Luiza Handschuh
The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data. Scientific reports 14 (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)
Barbara Mirska, Michal Zenczak, Katarzyna Nowis, Ireneusz Stolarek, Jan Podkowiński, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Natalia Koralewska, Pawel Zmora, Elzbieta Lenartowicz, Marcin Osuch, Katarzyna Łasińska, Jadwiga Kuczma-Napierała, Marcelina Maria Jaworska, Łukasz Madej, Marzena Ciechomska, Aleksander Jamsheer, Krzysztof Kurowski, Marek Figlerowicz, Luiza Handschuh
The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data. Scientific reports 14 (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)
Barbara Mirska, Michal Zenczak, Katarzyna Nowis, Ireneusz Stolarek, Jan Podkowiński, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Natalia Koralewska, Pawel Zmora, Elzbieta Lenartowicz, Marcin Osuch, Katarzyna Łasińska, Jadwiga Kuczma-Napierała, Marcelina Maria Jaworska, Łukasz Madej, Marzena Ciechomska, Aleksander Jamsheer, Krzysztof Kurowski, Marek Figlerowicz, Luiza Handschuh
The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data. Scientific reports 14 (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)
Barbara Mirska, Michal Zenczak, Katarzyna Nowis, Ireneusz Stolarek, Jan Podkowiński, Magdalena Rakoczy, Małgorzata Marcinkowska-Swojak, Natalia Koralewska, Pawel Zmora, Elzbieta Lenartowicz, Marcin Osuch, Katarzyna Łasińska, Jadwiga Kuczma-Napierała, Marcelina Maria Jaworska, Łukasz Madej, Marzena Ciechomska, Aleksander Jamsheer, Krzysztof Kurowski, Marek Figlerowicz, Luiza Handschuh
The landscape of the COVID-19 pandemic in Poland emerging from epidemiological and genomic data. Scientific reports 14 (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)
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)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics (2022)
Paulina Anikiej, Arkadiusz Mański, Katarzyna A Milska, Monika Limanówka, Jolanta Wierzba, Aleksander Jamsheer, Zuzanna Cyske, Lidia Gaffke, Karolina Pierzynowska, Grzegorz Wegrzyn
Highly diverse phenotypes of mucopolysaccharidosis type IIIB sibling patients: effects of an additional mutation in the AUTS2 gene. Journal of applied genetics 63 (3) (2022)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (1) (2022)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (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)
Katarzyna Ziółkowska, Kinga Toboła-Wróbel, Marek Pietryga, Grażyna Kasprzak, Aleksander Jamsheer, Ewa Wysocka
An Assessment of Selected Molecular and Biochemical Markers of the Folate Pathway as Potential Risk Factors for Fetal Trisomy 21 during the First Trimester of Pregnancy in the Polish Population. Journal of clinical medicine 11 (5) (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)
Magdalena Socha, Anna Szoszkiewicz, Dorota Simon, Aleksander Jamsheer
A pure de novo 16p13.3 duplication and amplification in a patient with femoral hypoplasia, psychomotor retardation, heart defect, and facial dysmorphism-a case report and literature review of the partial 16p13.3 trisomy syndrome. Journal of applied genetics 64 (1) (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)
Aleksandra Rojek, Bartłomiej Budny, Małgorzata Kałużna, Katarzyna Zawadzka, Aleksander Jamsheer, Anna Rohde, Marek Ruchala, Masehullah Sadiqi, Marek Niedziela
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy. Journal of applied genetics 62 (4) (2021)
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, Lukasz Kuszel, Anna Sowinska-Seidler, Bartlomiej Budny, Ewelina Bukowska-Olech, Magdalena Pilas-Pomykalska, Aleksander Jamsheer, Maciej R Krawczynski
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia. American journal of medical genetics. Part A (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)

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Publication Activity (10 Years)

Top Topics

Top Venues

Aleksander Jamsheer