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Author

Anna Poluha

Observed name: A. Poluha
ORCID: 0000-0002-4716-9423
Observed ORCID: 0000-0002-4716-9423
OpenAlex ID: A5031546296
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome
2015 · Saskia M. Maas, Adam C. Shaw, et al. · European Journal of Medical Genetics · 123
Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group
2021 · Jette J. Bakhuizen, Helen Hanson, et al. · Familial Cancer · 61
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Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer
2023 · Elisabeth Wadensten, Sandra Wessman, et al. · JCO Precision Oncology · 32
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Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group
2020 · Simone Hettmer, Guillaume Dachy, et al. · Familial Cancer · 31
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Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study
2024 · Bianca Tesi, Kristina Lagerstedt Robinson, et al. · The Lancet Regional Health - Europe · 24
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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population
2022 · Kristina Lagerstedt-Robinson, Izabella Baranowska Körberg, et al. · PLoS ONE · 15
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Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay
2016 · Marta Smyk, Anna Poluha, et al. · American Journal of Medical Genetics Part A · 15
Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region
2017 · Anna Poluha, Joanna Bernaciak, et al. · Molecular Cytogenetics · 10
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Characterisation of heritable TP53-related cancer syndrome in Sweden—a nationwide study of genotype-phenotype correlations in 90 families
2025 · Meis Omran, Yaxuan Liu, et al. · European Journal of Human Genetics · 8
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Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part three
2017 · PRINTO/PRCSG, Riccardo Papa, et al. · Pediatric Rheumatology · 7
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Allelic loss of selected tumor suppressor genes in acute lymphoblastic leukemia in children
2013 · Ewa Studniak, Eliza Maloney, et al. · Polish Journal of Pathology · 7
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Melanoma and other malignant skin cancers in psoriatic patients treated with phototherapy. Role of the p16 protein in psoriasis
2012 · Anna Szponar-Bojda, Aldona Pietrzak, et al. · Folia Histochemica et Cytobiologica · 6
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Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation
2023 · Carolina Maya-González, Sandra Wessman, et al. · Frontiers in Medicine · 5
Cytogenetics in Hematology
2012 · Olga Haus, Anna Poluha, et al. · Principles and practice · 3
Diagnostic yield of cancer predisposition in a nationwide prospective childhood acute leukemia cohort
2026 · Fulya Taylan, Anna Staffas, et al. · Nature Communications
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Approaches to thyroid nodules in paediatric cancer predisposition syndromes
2026 · Michaela Kuhlen, Samuele Naviglio, et al. · European Thyroid Journal
The Nordic ChiCaP Network: An interdisciplinary approach to childhood cancer predisposition
2025 · Fulya Taylan, Joel Janhonen, et al. · Rare
Pediatric Soft Tissue Sarcoma in Limb-Girdle Muscular Dystrophy: Molecular Findings and Clinical Implications
2024 · Carolina Maya-González, Teresita Díaz De Ståhl, et al. · American Journal of Case Reports
THU0465 Severe Fibrodysplasia Ossificans Progressiva in a 3-Year-Old Girl with Atypical Acvr1 Mutation (G356D)
2013 · J. Postępski, A. Poluha, et al. · Annals of the Rheumatic Diseases
Melanoma and skin cancers in psoriatic patients treated with phototherapy. Role of the p16 protein in psoriasis
2012 · Anna Szponar-Bojda, Aldona Pietrzak, et al. · Folia Histochemica et Cytobiologica
Biobanking of Cellular Material
2012 · Anna Poluha, Elżbieta Urbanowska · Principles and practice
Works count: 21
Citation count: 347
H-index: 8
I10-index: 8
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