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B. Budny · SciRah

Researcher profile · Semantic Scholar

B. Budny

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B. Budny — researcher profile on SciRah

h-index: 16
Works: 72
Citations: 1,333

Most-cited papers

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
H. Hu, S. Haas, J. Chelly, H. Van Esch +80 more
2015Molecular Psychiatry296 citations Open access
Semantic Scholar
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
K. Coene, R. Roepman, D. Doherty, B. Afroze +14 more
2009American Journal of Human Genetics211 citations Open access
Semantic Scholar
A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
B. Budny, Wei Chen, H. Omran, M. Fliegauf +9 more
2006Human Genetics181 citations
Semantic Scholar
Novel missense mutations in the ubiquitination‐related gene UBE2A cause a recognizable X‐linked mental retardation syndrome
B. Budny, M. Badura-Stronka, A. Materna-Kiryluk, A. Tzschach +3 more
2010Clinical Genetics56 citations
Semantic Scholar
A novel nonsense mutation in CUL4B gene in three brothers with X‐linked mental retardation syndrome
M. Badura-Stronka, A. Jamsheer, A. Materna-Kiryluk, A. Sowińska +3 more
2010Clinical Genetics53 citations
Semantic Scholar
The Role of Serum C-Reactive Protein Measured by High-Sensitive Method in Thyroid Disease
A. Czarnywojtek, M. Owecki, M. Zgorzalewicz-Stachowiak, Kosma Woliński +9 more
2014Archivum Immunologiae et Therapiae Experimentalis46 citations Open access
Semantic Scholar
Head and Neck Paragangliomas—A Genetic Overview
A. Majewska, B. Budny, K. Ziemnicka, M. Ruchała +1 more
2020International Journal of Molecular Sciences45 citations Open access
Semantic Scholar
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Raman Kumar, M. Corbett, B. V. van Bon, A. Gardner +32 more
2015Human Molecular Genetics36 citations Open access
Semantic Scholar
FOXE1 Polyalanine Tract Length Polymorphism in Patients with Thyroid Hemiagenesis and Subjects with Normal Thyroid
E. Szczepanek, M. Ruchała, Witold Szaflarski, B. Budny +5 more
2011Hormone Research in Paediatrics36 citations
Semantic Scholar
Differences in Mutational Profile between Follicular Thyroid Carcinoma and Follicular Thyroid Adenoma Identified Using Next Generation Sequencing
M. Borowczyk, Ewelina Szczepanek-Parulska, S. Dębicki, B. Budny +7 more
2019International Journal of Molecular Sciences33 citations Open access
Semantic Scholar
The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population
M. Kaczmarek-Ryś, K. Ziemnicka, S. Hryhorowicz, K. Górczak +11 more
2015Hereditary Cancer in Clinical Practice33 citations Open access
Semantic Scholar
Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis
M. Borowczyk, Ewelina Szczepanek-Parulska, M. Olejarz, B. Więckowska +6 more
2018Endocrine pathology31 citations Open access
Semantic Scholar
OFD 1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA 5-Encoded Lebercilin
K. Coene, R. Roepman, D. Doherty, B. Afroze +14 more
200924 citations
Semantic Scholar
Mutations in proteasome-related genes are associated with thyroid hemiagenesis
B. Budny, Ewelina Szczepanek-Parulska, T. Żemojtel, Witold Szaflarski +10 more
2017Endocrine22 citations Open access
Semantic Scholar
PAX6 3′ deletion in a family with aniridia
Anna Wawrocka, B. Budny, S. Dębicki, A. Jamsheer +2 more
2012Ophthalmic Genetics21 citations
Semantic Scholar
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD)
B. Budny, T. Żemojtel, M. Kałużna, P. Gut +12 more
2020Frontiers in Endocrinology19 citations Open access
Semantic Scholar
Nicotinamide phosphoribosyltransferase leukocyte overexpression in Graves’ opthalmopathy
N. Sawicka-Gutaj, B. Budny, Ariadna Zybek-Kocik, J. Sowiński +3 more
2016Endocrine14 citations Open access
Semantic Scholar
Alternative 3' acceptor site in the exon 2 of human PAX8 gene resulting in the expression of unknown mRNA variant found in thyroid hemiagenesis and some types of cancers.
Ewelina Szczepanek-Parulska, Witold Szaflarski, K. Piątek, B. Budny +6 more
2013Acta Biochimica Polonica14 citations Open access
Semantic Scholar
A novelGJA1 missense mutation in a Polish child with oculodentodigital dysplasia
A. Jamsheer, Marzena Wiśniewska, A. Szpak, G. Bugaj +4 more
2010Journal of Applied Genetics13 citations
Semantic Scholar
Modifying impact of RET gene haplotypes on medullary thyroid carcinoma clinical course.
M. Kaczmarek-Ryś, K. Ziemnicka, A. Pławski, B. Budny +10 more
2018Endocrine-Related Cancer12 citations Open access
Semantic Scholar
Defects in GnRH Neuron Migration/Development and Hypothalamic-Pituitary Signaling Impact Clinical Variability of Kallmann Syndrome
M. Kałużna, B. Budny, M. Rabijewski, Jarosław Kałużny +6 more
2021Genes10 citations Open access
Semantic Scholar
Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency
B. Budny, K. Karmelita-Katulska, M. Stajgis, T. Żemojtel +2 more
2020International Journal of Molecular Sciences9 citations Open access
Semantic Scholar
Compound heterozygous GLI3 variants in siblings with thyroid hemiagenesis
Ewelina Szczepanek-Parulska, B. Budny, M. Borowczyk, K. Zawadzka +2 more
2020Endocrine9 citations Open access
Semantic Scholar
The Effect of Ionising Radiation on the Properties of Tumour-Derived Exosomes and Their Ability to Modify the Biology of Non-Irradiated Breast Cancer Cells—An In Vitro Study
M. Lach, Joanna Patrycja Wróblewska, Marcin Michalak, B. Budny +2 more
2025International Journal of Molecular Sciences8 citations Open access
Semantic Scholar
CCND1 gene polymorphic variants in patients with differentiated thyroid carcinoma
S. Hryhorowicz, K. Ziemnicka, M. Kaczmarek-Ryś, Justyna Hoppe-Gołębiewska +7 more
2014Oncology Letters8 citations Open access
Semantic Scholar
The influence of radioiodine therapy on ocular changes and their relation to urine cotinine level in patients with Graves' Ophthalmopathy.
A. Czarnywojtek, M. Zgorzalewicz-Stachowiak, B. Budny, R. Waśko +7 more
2013Neuro - endocrinology letters8 citations
Semantic Scholar
Follicular Thyroid Adenoma and Follicular Thyroid Carcinoma—A Common or Distinct Background? Loss of Heterozygosity in Comprehensive Microarray Study
M. Borowczyk, P. Dobosz, Ewelina Szczepanek-Parulska, B. Budny +8 more
2023Cancers7 citations Open access
Semantic Scholar
CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy
M. Obara-Moszyńska, B. Budny, M. Kałużna, K. Zawadzka +5 more
2021Journal of Applied Genetics7 citations Open access
Semantic Scholar
The genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next generation sequencing reflects the diversity of the final histopathological diagnoses.
M. Borowczyk, Ewelina Szczepanek-Parulska, S. Dębicki, B. Budny +8 more
2019Polish Archives of Internal Medicine7 citations Open access
Semantic Scholar
High incidence of FLT3 mutations in follicular thyroid cancer: potential therapeutic target in patients with advanced disease stage
M. Borowczyk, Ewelina Szczepanek-Parulska, S. Dębicki, B. Budny +9 more
2020Therapeutic Advances in Medical Oncology6 citations Open access
Semantic Scholar
Correction to: Evaluation of 167 Gene Expression Classifier (GEC) and ThyroSeq v2 Diagnostic Accuracy in the Preoperative Assessment of Indeterminate Thyroid Nodules: Bivariate/HROC Meta-analysis
M. Borowczyk, Ewelina Szczepanek-Parulska, M. Olejarz, B. Więckowska +6 more
2019Endocrine pathology6 citations Open access
Semantic Scholar
Elevated serum RANTES chemokine levels in autoimmune Addison disease.
M. Fichna, M. Żurawek, B. Budny, H. Komarowska +3 more
2018Polish Archives of Internal Medicine6 citations Open access
Semantic Scholar
Determinants of Visfatin/NAMPT Serum Concentration and its Leukocyte Expression in Hyperthyroidism
N. Sawicka-Gutaj, Ariadna Zybek-Kocik, Michał Kloska, A. Czarnywojtek +6 more
2018Hormone and Metabolic Research6 citations
Semantic Scholar
Genomic markers of ovarian adenocarcinoma and its relevancy to the effectiveness of chemotherapy
M. Englert-Golon, B. Burchardt, B. Budny, S. Dębicki +7 more
2017Oncology Letters6 citations Open access
Semantic Scholar
VEGF-C Is a Thyroid Marker of Malignancy Superior to VEGF-A in the Differential Diagnostics of Thyroid Lesions
Kosma Woliński, A. Stangierski, Ewelina Szczepanek-Parulska, E. Gurgul +4 more
2016PLoS ONE5 citations Open access
Semantic Scholar
NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis
Ewelina Szczepanek-Parulska, B. Budny, M. Borowczyk, I. Zhukov +6 more
2022International Journal of Molecular Sciences4 citations Open access
Semantic Scholar
Pituitary Microsomal Autoantibodies in Patients with Childhood-Onset Combined Pituitary Hormone Deficiency: an Antigen Identification Attempt
K. Ziemnicka, P. Gut, M. Gołąb, G. Dworacki +10 more
2016Archivum Immunologiae et Therapiae Experimentalis4 citations Open access
Semantic Scholar
Genomic mapping of pathways in endometrial adenocarcinoma and a gastrointestinal stromal tumor located in Meckel's diverticulum
M. Englert-Golon, B. Budny, B. Burchardt, Elżbieta Wrotkowska +3 more
2015Oncology Letters4 citations Open access
Semantic Scholar
Variety of genetic defects in GnRH and hypothalamic–pituitary signaling and development in normosmic patients with IHH
M. Kałużna, B. Budny, Michał Rabijewski, A. Dubiel +7 more
2024Frontiers in Endocrinology3 citations Open access
Semantic Scholar
[Evaluation of q11-q13 locus of chromosome 15 aberrations and polymorphisms in the B3 subunit of the GABA-A receptor gene (GABRB3) in autistic patients].
A. Słopień, A. Rajewski, B. Budny, P. Czerski
2002Psychiatria Polska3 citations
Semantic Scholar
Longitudinal analysis of serum alpha-fetoprotein in stable and progressive metastatic pancreatic neuroendocrine tumours
Jan Musiałkiewicz, M. Ruchała, P. Komarnicki, Adam Maciejewski +4 more
2025Endocrine Connections2 citations Open access
Semantic Scholar
Magnetic resonance imaging does not distinguish Kallmann syndrome from normosmic isolated hypogonadotropic hypogonadism
M. Kałużna, Katarzyna Katulska, K. Ziemnicka, Pola Kompf +6 more
2024Endocrine Connections2 citations Open access
Semantic Scholar
“Slipped capital femoral epiphysis in a 25-year-old hypogonadic man with a large cranial chondroma: causality or coincidence? “
N. Sawicka-Gutaj, W. Woźniak, J. Naczk, Mateusz Pochylski +4 more
2021BMC Endocrine Disorders2 citations Open access
Semantic Scholar
Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia
Anna Wawrocka, Joanna Walczak-Sztulpa, Magdalena Socha, Lukasz Kuszel +6 more
2021American Journal of Medical Genetics. Part A2 citations
Semantic Scholar
Progressing Vulvar Melanoma Caused by Instability in cKIT Juxtamembrane Domain: A Case Report and Review of Literature
M. Englert-Golon, B. Budny, M. Lewandowska, B. Burchardt +6 more
2022Current Oncology1 citations Open access
Semantic Scholar
The Role of Serum C-Reactive Protein Measured by High-Sensitive Method in Thyroid Disease
A. Czarnywojtek, M. Owecki, M. Zgorzalewicz-Stachowiak, Kosma Woliński +9 more
2014Archivum Immunologiae et Therapiae Experimentalis1 citations Open access
Semantic Scholar
Influence of glucocorticoids and glucocorticoid receptor gene polymorphisms on glucose metabolism
D. Pisarczyk-Wiza, K. Ziemnicka, B. Budny, D. Zozulińska-Ziółkiewicz
20141 citations
Semantic Scholar
Next-generation sequencing in >240 families with X-linked intellectual disability
V. Kalscheuer, Hao Hu, S. Haas, J. Chelly +41 more
20131 citations
Semantic Scholar
Massively parallel sequencing in >250 families with X-linked intellectual disability
V. Kalscheuer, Hao Hu, S. Haas, J. Chelly +70 more
20111 citations
Semantic Scholar
Prognostic and Predictive Significance of Selected Gene Mutations in Pancreatic and Intestinal Neuroendocrine Tumors
Jan Musiałkiewicz, B. Budny, Aleksandra Anioła, Adam Maciejewski +4 more
2026International Journal of Molecular Sciences0 citations Open access
Semantic Scholar

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