Bartłomiej Budny
Poznan University of Medical Sciences(PL)
Publications by Year
Research Areas
Thyroid Cancer Diagnosis and Treatment, Genetics and Neurodevelopmental Disorders, Thyroid Disorders and Treatments, Genetic factors in colorectal cancer, Hedgehog Signaling Pathway Studies
Most-Cited Works
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin(2009)208 cited
- → A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome(2006)189 cited
- → A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome(2009)54 cited
- → Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome(2010)54 cited
- → The Role of Serum C-Reactive Protein Measured by High-Sensitive Method in Thyroid Disease(2014)44 cited
- → Head and Neck Paragangliomas—A Genetic Overview(2020)40 cited
- → The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population(2015)36 cited
- → Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis(2018)35 cited
- → Differences in Mutational Profile between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma Identified Using Next Generation Sequencing(2019)35 cited