Zofia Miedzybrodzka (Zosia Miedzybrodzka)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 12

Top Topics

Transforming Growth Factor

Clinical Decision Support

Chronic Rhinosinusitis

Top Venues

European journal of human genetics : EJHG

Journal of neurology

Clinical cancer research : an official journal of the American Association for Cancer Research

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

Publications

Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. European journal of human genetics : EJHG 32 (6) (2024)
Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. European journal of human genetics : EJHG 32 (6) (2024)
Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. European journal of human genetics : EJHG 32 (6) (2024)
Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. European journal of human genetics : EJHG 32 (6) (2024)
Madeline Pearson, Ruth McGowan, Philip Greene, Wayne Lam, Zofia Miedzybrodzka, Jonathan Berg
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort. European journal of human genetics : EJHG (2024)
Shona M Kerr, Emma Cowan, Lucija Klarić, Christine Bell, Dawn O'Sullivan, David Buchanan, Joseph J Grzymski, Cristopher V Van Hout, Gannie Tzoneva, Alan R Shuldiner, James F Wilson, Zofia Miedzybrodzka
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians. European journal of human genetics : EJHG (2023)
Nadeem Qureshi, Bethan Woods, Rita Isabel Neves de Faria, Pedro Saramago, Edward Cox, Jo Leonardi-Bee, Laura Condon, Stephen F Weng, Ralph Kwame Akyea, Barbara Iyen, Paul J Roderick, Steve E Humphries, William Rowlands, Melanie Watson, Kate Haralambos, Ryan P W Kenny, Dev Datta, Zofia Miedzybrodzka, Christopher D Byrne, Joe Kai
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis. Health technology assessment (Winchester, England) 27 (16) (2023)
Shona M Kerr, Emma Cowan, Lucija Klarić, Christine Bell, Dawn O'Sullivan, David Buchanan, Joseph J Grzymski, Cristopher V Van Hout, Gannie Tzoneva, Alan R Shuldiner, James F Wilson, Zofia Miedzybrodzka
Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians. European journal of human genetics : EJHG (2023)
Dylan P McClurg, Gordan Urquhart, Trevor McGoldrick, Subarnarekha Chatterji, Zofia Miedzybrodzka, Valerie Speirs, Beatrix Elsberger
Analysis of the Clinical Advancements for BRCA -Related Malignancies Highlights the Lack of Treatment Evidence for BRCA -Positive Male Breast Cancer. Cancers 14 (13) (2022)
Lynne J Hocking, Claire Andrews, Christine Armstrong, Morad Ansari, David Baty, Jonathan Berg, Therese Bradley, Caroline Clark, Austin Diamond, Jill Doherty, Anne Lampe, Ruth McGowan, David J Moore, Dawn O'Sullivan, Andrew Purvis, Javier Santoyo-Lopez, Paul Westwood, Michael Abbott, Nicola Williams, null null, Timothy J Aitman, Zofia Miedzybrodzka
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing. European journal of human genetics : EJHG (2022)
Georgios Kounidas, Heather Cruickshank, Stavroula Lila Kastora, Stella Sihlabela, Zofia Miedzybrodzka
The known burden of Huntington disease in the North of Scotland: prevalence of manifest and identified pre-symptomatic gene expansion carriers in the molecular era. Journal of neurology 268 (11) (2021)
Simona Corso, Filippo Pietrantonio, Maria Apicella, Cristina Migliore, Daniela Conticelli, Annalisa Petrelli, Laura D'Errico, Stefania Durando, Daniel Moya-Rull, Sara Erika Bellomo, Stefano Ughetto, Maurizio Degiuli, Rossella Reddavid, Uberto Fumagalli, Stefano De Pascale, Giovanni Sgroi, Emanuele Rausa, Gian Luca Baiocchi, Sarah Molfino, Giovanni De Manzoni, Maria Bencivenga, Salvatore Siena, Andrea Sartore-Bianchi, Federica Morano, Salvatore Corallo, Michele Prisciandaro, Maria Di Bartolomeo, Annunziata Gloghini, Silvia Marsoni, Antonino Sottile, Anna Sapino, Caterina Marchio, Asa Dahle-Smith, Zofia Miedzybrodzka, Jessica Lee, Siraj M Ali, Jeffery S Ross, Brian M Alexander, Vincent A Miller, Russell Petty, Alexa B Schrock, Silvia Giordano
Optimized EGFR Blockade Strategies in EGFR Addicted Gastroesophageal Adenocarcinomas. Clinical cancer research : an official journal of the American Association for Cancer Research 27 (11) (2021)