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List of works by Joanna Trubicka

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Lung cancer susceptibility locus at 5p15.33

scientific article
Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3

scientific journal article
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium

scientific article
A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23

scientific article published on 18 October 2011
A novel founder CHEK2 mutation is associated with increased prostate cancer risk

scientific article published in April 2004
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article
International Lung Cancer Consortium: coordinated association study of 10 potential lung cancer susceptibility variants

scientific article
Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population

scientific article
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes

scientific article published on 4 February 2016
The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

scientific article
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma

scientific article
Germline mutations in theCHEK2 kinase gene are associated with an increased risk of bladder cancer

scientific article published in 2007
A sex-specific association between a 15q25 variant and upper aerodigestive tract cancers

scientific article
Variant alleles of the CYP1B1 gene are associated with colorectal cancer susceptibility

scientific article published on 11 August 2010
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome.

scientific article published on 30 January 2013
Increased reactive oxygen species (ROS) production and low catalase level in fibroblasts of a girl with MEGDEL association (Leigh syndrome, deafness, 3-methylglutaconic aciduria).

scientific article published in January 2011
Contrast enhancement pattern predicts poor survival for patients with non-WNT/SHH medulloblastoma tumours

scientific article published on 11 April 2015
CDKN2A common variant and multi-organ cancer risk--a population-based study

scientific article published in June 2006
Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

article
CYP1B1 and predisposition to breast cancer in Poland

article
ALK Expression Is a Novel Marker for the WNT-activated Type of Pediatric Medulloblastoma and an Indicator of Good Prognosis for Patients

scientific article published on 23 March 2017
Medulloblastoma with transitional features between Group 3 and Group 4 is associated with good prognosis.

scientific article published on 9 February 2018
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

scientific article published on 18 April 2016
Identification of a novel inherited ALK variant M1199L in the WNT type of medulloblastoma

scientific article published in January 2016
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017
Breast cancer susceptibility genes

article
The germline variants in DNA repair genes in pediatric medulloblastoma: a challenge for current therapeutic strategies

scientific article
DNA testing for variants conferring low or moderate increase in the risk of cancer

scientific article published on 15 June 2008
3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency

article
A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

scientific article
Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

scientific article
Bilateral striatal necrosis caused by ADAR mutations in two siblings with dystonia and freckles-like skin changes that should be differentiated from Leigh syndrome

scientific article published in January 2016
Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

scientific article
Pediatric Medulloblastoma: The Role of Heterozygous Germ-Line Mutations in the NBN Gene

article
Clinical and diagnostic aspects of Barth syndrome (X-linked cardiomyopathy)

scientific article published on 01 January 2011
Low-risk Genes and Multi-organ Cancer Risk in the Polish Population

scientific article published on 15 January 2006
Correction: A Genome-Wide Association Study of Upper Aerodigestive Tract Cancers Conducted within the INHANCE Consortium.

scientific article published on 26 April 2011
Immunohistochemical detection of ALK protein identifies APC mutated medulloblastoma and differentiates the WNT-activated medulloblastoma from other types of posterior fossa childhood tumors

scientific article published on 06 December 2018
Pattern of Relapse and Treatment Response in WNT-Activated Medulloblastoma

scientific article published on 01 June 2020
TBIO-13. CONSTITUTIONAL MOSAICISM OF CLINICALLY IMPORTANT GENETIC MARKERS IN PEDIATRIC BRAIN TUMORS DETECTED BY NEXT-GENERATION SEQUENCING

Recurrent PALB2 mutations and the risk of cancers of bladder or kidney in Polish population

scientific article published on 08 January 2021
Identification of the first in Poland CACNA1A gene mutation in familial hemiplegic migraine. Case report

scientific article published on 21 January 2017
MB-04A NOVEL GERMLINE MUTATION IN ALK GENE (M1199L) IDENTYFIED IN THE WNT TYPE OF MEDULLOBLASTOMA.

scientific article published on 30 May 2016
Abstracts

article by L. Bie et al published 1 April 2013 in Neuro-Oncology
P02.03 ALK expression can differentiate the WNT-activated type of medulloblastoma from choroid plexus carcinoma and ependymoma

MB-02CONTRAST ENHANCEMENT PATTERN IS ASSOCIATED WITH MOLECULAR TYPE OF MEDULLOBLASTOMA TUMOURS AND PREDICTS POOR SURVIVAL FOR PATIENTS.

scientific article published on 30 May 2016
Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism

scientific article published on 10 November 2021
Familial association of laryngeal, lung, stomach and early-onset breast cancer

Risk-Adapted Treatment Strategies with Pre-Irradiation Chemotherapy in Pediatric Medulloblastoma: Outcomes from the Polish Pediatric Neuro-Oncology Group

scientific article published in 2023

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