Department of Pediatrics and medical genetics (ceased 1-10-2018)
5407 publications
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A novel L-asparaginase with low L-glutaminase coactivity is highly efficacious against both T- and B-cell acute lymphoblastic leukemias in vivo
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
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The BRCA1 c. 5096G > A p.Arg1699Gln (R1699Q) intermediate risk variant : breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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- Journal Article
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- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11
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Arterial tortuosity syndrome : 40 new families and literature review
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A thiolactone strategy for straightforward synthesis of disulfide-linked side-chain-to-tail cyclic peptides featuring an N-terminal modification handle
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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Pharmacological restoration of tumour suppressor protein p53 in neuroblastoma : seeking synergy and non-invasive biomarkers
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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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- Conference Paper
- C3
- open access
The TLX1 oncogene modules the enhancer RNA landscape in T-ALL
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- Conference Paper
- C3
- open access
TLX1 controlled long non-coding RNAs in T-cell acute lymphoblastic leukemia
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Two cases of seborrheic keratosis of the external ear canal : involvement of PIK3CA and FGFR3 genes
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- Journal Article
- A1
- open access
Semi-automated digital measurement as the method of choice for beta cell mass analysis
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Inhibition of Cdk5 promotes β-cell differentiation from ductal progenitors
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Ethical considerations of researchers conducting pediatric clinical drug trials : a qualitative survey in two Belgian university children's hospitals
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- Conference Paper
- C3
- open access
A novel approach in paediatric drug research : the development of a juvenile pig model for pharmacokinetic/pharmacodynamic studies, using desmopressin as case 1
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- Conference Paper
- C3
- open access
The SAFE-PEDRUG project : an opportunity for academia to close the gap
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- Journal Article
- A1
- open access
IncGraph : incremental graphlet counting for topology optimisation
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Interpreting genetic variants in titin in patients with muscle disorders
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- Journal Article
- A1
- open access
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications
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- Journal Article
- A2
- open access
A case of chronic eosinophilic leukemia with secondary transformation to acute myeloid leukemia
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Pathogenic variants in the ABCC6 gene are associated with an increased risk for ischemic stroke
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Recombinant extracellular vesicles : biological reference material to standardize extracellular vesicle research
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The RRM2-PHF6 complex protects neuroblastoma cells from DNA damage accumulation to install a replication stress resistance phenotype
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The core regulatory circuit component TBX2 is implicated in cell cycle control and proliferation in neuroblastoma
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SOX11 is a transcriptional circuit dosage sensitive transcription factor controlling SWI/SNF components
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The core regulatory circuit component TBX2 is implicated in cell cycle control and proliferation in neuroblastoma
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TBX2 is implicated in cell cycle control and proliferation in neuroblastoma
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LDHA in neuroblastoma is associated with poor outcome and its depletion decreases neuroblastoma growth independent of aerobic glycolysis
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Risk factors and impact of allergic bronchopulmonary aspergillosis in Pseudomonas aeruginosa-negative CF patients
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De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
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Risk stratification of high-risk metastatic neuroblastoma : a report from the HR-NBL-1/SIOPEN study
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Event-free survival of infants and toddlers enrolled in the HR-NBL-1/SIOPEN trial is associated with the level of neuroblastoma mRNAs at diagnosis
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- Journal Article
- A1
- open access
A comprehensive inventory of TLX1 controlled long non-coding RNAs in T-cell acute lymphoblastic leukemia through polyA+ and total RNA sequencing
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Population pharmacokinetic modeling of a desmopressin oral lyophilisate in growing piglets as a model for the pediatric population
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Conventional growing piglets as potential juvenile animal model for preclinical pharmaceutical research : postnatal maturation of the glomerular filtration rate
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- Journal Article
- A1
- open access
The predictive value of colon transit time and anorectal manometry in the approach of faecal continence in children with spina bifida
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A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity
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Generation and validation of a complete knockout model of abcc6a in zebrafish
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- Journal Article
- A1
- open access
Primary brain calcification : an international study reporting novel variants and associated phenotypes
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New mitochondrial diagnostic testing in fibroblasts, a minimally invasive tissue, identifies sensitive functional testing methods for complex I deficient primary mitochondrial disorders
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
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Missing heritability in inherited blindness : ABCA4-associated disease as a model
(2018) -
The NF1 hotspot in acute myeloid leukemia : what’s in a name?
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- Journal Article
- A1
- open access
Clinical characterization of 66 patients with congenital retinal disease due to the deep-intronic c.2991+1655A>G mutation in CEP290
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- Journal Article
- A1
- open access
The spectrum of structural and functional abnormalities in female carriers of pathogenic variants in the RPGR gene
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Non-invasive differential diagnosis of neuroblastoma with other paediatric solid tumors using methylation profiling of circulating cell-free DNA
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Epigenetic regulation of neuroblastoma development
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Cell of origin dictates aggression and stem cell number in acute lymphoblastic leukemia
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Network modeling of microRNA-mRNA interactions in neuroblastoma tumorigenesis identifies miR-204 as a direct inhibitor of MYCN
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Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model
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Chromosomal mosaicism in human blastocysts : the ultimate challenge of preimplantation genetic testing?
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NFAT5 and p38 MAPKs interact in muscle cells responding to osmotic and inflammatory stress and in polymyositis
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Farmacotherapeutische actualiteit : Nieuwe geneesmiddelen, terugtrekkingen en wijzigingen in voorschrijfmodaliteiten september-november 2017 ; Overzicht van de recente literatuur ; Antibioticumvoorschriften voor niet-bacteriële bovensteluchtweginfecties ; Prenatale kinkhoestvaccinatie doeltreffend tegen pertussis bij zuigelingen
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On determining the power of digital PCR experiments
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Predictors of rapid aortic root dilation and referral for aortic surgery in Marfan syndrome
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- Conference Paper
- C3
- open access
Urotherapy : definitions and evidence
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(Re)generating human beta cells : status, pitfalls, and perspectives
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Vegf-A mRNA transfection as a novel approach to improve mouse and human islet graft revascularisation
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Modulation of VEGF-A signaling by beta cells : during pregnancy and islet transplantation
(2018) -
A heart for fibrillin : spatial arrangement in adult wild-type murine myocardial tissue
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- Journal Article
- A1
- open access
Comparative analysis of naive, primed and ground state pluripotency in mouse embryonic stem cells originating from the same genetic background
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The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
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Promoter-associated proteins of EPAS1 identified by enChIP-MS : a putative role of HDX as a negative regulator
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- Journal Article
- A1
- open access
Heart failure and sudden cardiac death in heritable thoracic aortic disease caused by pathogenic variants in the SMAD3 gene
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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The MEF2C regulatory network is disrupted in patients with Rett-like characteristics
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- PhD Thesis
- open access
Data analysis methods for digital PCR quantification
(2018) -
- Journal Article
- A1
- open access
Psychological functioning in adolescents referred to specialist gender identity clinics across Europe : a clinical comparison study between four clinics
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Epigenomic profiling and single-nucleus-RNA-seq reveal cis-regulatory elements in human retina, macula and RPE and non-coding genetic variation
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- Miscellaneous
- open access
Mutant JAK3 phosphoproteomic profiling predicts synergism between JAK3 inhibitors and MEK/BCL2 inhibitors for the treatment of T-cell acute lymphoblastic leukemia (vol 32, pg 788, 2018)
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- Journal Article
- A1
- open access
A novel t(8;14)(q24;q11) rearranged human cell line as a model for mechanistic and drug discovery studies of NOTCH1-independent human T-cell leukemia
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- Journal Article
- A1
- open access
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline
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Wide variation in organisation and clinical practice of paediatric intestinal failure teams : an international survey
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Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
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Prognostic and therapeutic implications of circulating androgen receptor gene copy number in prostate cancer patients using droplet digital polymerase chain reaction
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Assessment of risk refinement strategies for improved clinical outcome of neuroblastoma patients
(2018) -
Cardiovascular imaging in Turner syndrome : state-of-the-art practice across the lifespan
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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans
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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
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When one rare disease hides another : Kartagener syndrome masking FMF
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Claiming desmopressin therapeutic equivalence in children requires pediatric data : a population PKPD analysis
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Cardiac autonomic function and reactivity tests in physically active subjects with moderately severe COPD
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Structural activation of pro-inflammatory human cytokine IL-23 by cognate IL-23 receptor enables recruitment of the shared receptor IL-12Rβ1
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- Conference Paper
- C3
- open access
The pull-introducer technique in small infants : describing our centre experience in 3 children
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- Conference Paper
- C3
- open access
Patient-control cross-over study between two different systems (colotip and peristeen) for colon enemas in children, preliminary results
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Is eculizumab efficacious in Shigatoxin-associated hemolytic uremic syndrome? : a narrative review of current evidence
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A case of Graves' disease associated with membranoproliferative glomerulonephritis and leukocytoclastic vasculitis
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- Conference Paper
- C3
- open access
Value of the ICCS screening tool for patient subtyping
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Prevalence of obstructive sleep apnea and its relation to cardiovascular disease in Marfan syndrome
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Myocardial disease and arrhythmia in Marfan syndrome
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- Journal Article
- A1
- open access
Predicting inflammatory bowel disease in children with abdominal pain and diarrhoea : calgranulin-C versus calprotectin stool tests
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- Journal Article
- A2
- open access
Peritumoral endothelial indoleamine 2,3-dioxygenase expression is an early independent marker of disease relapse in colorectal cancer and is influenced by DNA mismatch repair profile
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Clinical and genetic predictors of atypical hemolytic uremic syndrome phenotype and outcome
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Nutritional considerations in pediatric pancreatitis : a position paper from the NASPHAN Pancreas Committee and ESPHAN Cystic Fibrosis/Pancreas Working Group
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Cardiopulmonary exercise testing in children : beyond the borders
(2018) -
Drug-drug interaction related to the use of pipamperon and ondansetron in a child treated for leukemia
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Looking for the missing links : challenges in the search for genotype-phenotype correlation in Marfan syndrome
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Hungarian Marfan family with large FBN1 deletion calls attention to copy number variation detection in the current NGS era
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- Conference Paper
- C3
- open access
Desmopressin what is new? : paediatric drug development : towards maturity
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- Conference Paper
- C3
- open access
Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation
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Zipper plot : visualizing transcriptional activity of genomic regions
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Exploring the contribution of gene dosage effects of 17Q gain on ESC and neuroblastoma proliferation
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- Conference Paper
- C3
- open access
Exploring the contribution of gene dosage effects of 17q gain on ESC and neuroblastoma proliferation
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Reducing inappropriate antibiotic prescribing for children in primary care : a cluster randomised controlled trial of two interventions
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- Conference Paper
- C3
- open access
Glomerular hyperfiltration : a new concept in critically ill children
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- Journal Article
- A1
- open access
Identification of specific metabolic pathways as druggable targets regulating the sensitivity to cyanide poisoning
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- Journal Article
- A1
- open access
Genetic background may contribute to the latitude-dependent prevalence of dermatomyositis and anti-TIF1-γ autoantibodies in adult patients with myositis
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A mechanistic classification of clinical phenotypes in neuroblastoma
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LDHA predicts poor survival in neuroblastoma and its depletion causes aerobic glycolysis-independent inhibition of neuroblastoma cells
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Stem cell derived cardiomyocytes extra cellular matrix to model Marfan syndrome in vitro
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Interactions between stem cell derived cardiomyocytes and extra cellular matrix to model Marfan syndrome in vitro
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Functional measurements of stem cell derived cardiomyocytes to model Marfan syndrome in vitro
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TGFβ and aortic disease severity in MFS
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Stem cell derived cardiomyocytes to model Marfan syndrome in vitro
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TGFβ and aortic disease severity in MFS
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Sex, pregnancy and aortic disease in Marfan syndrome
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Proteome-wide identification of in vivo ISG15 modification sites links ISGylation to metabolic pathways and autophagy following Listeria monocytogenes infection
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- Journal Article
- A1
- open access
Children on dialysis as well as renal transplanted children report severely impaired health-related quality of life
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A mechanistic classification of clinical phenotypes in neuroblastoma.
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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BATCH-GE : analysis of NGS data for genome editing assessment
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Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome
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Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
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Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
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Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families
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- Conference Paper
- C3
- open access
A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta
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- Conference Paper
- C3
- open access
Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients
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Fishing for the missing link : successful translation of a human disorder in zebrafish
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features
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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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Zebrafish modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model
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Loss of galactosyltransferase II, encoded by B3GALT6, causes skeletal abnormalities in a zebrafish model for spondylodysplastic Ehlers-Danlos syndrome, the B3GALT6 type
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A mechanistic classification of clinical phenotypes in neuroblastoma
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- Journal Article
- A1
- open access
Ehlers-Danlos syndromes : state of the art on clinical practice guidelines
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Voiding school for children with refractory non-neurogenic overactive bladder : a 10-year retrospective study
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The role of microRNA-155 in cigarette smoke-induced inflammation
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- Conference Paper
- C3
- open access
Propagation-based phase-contrast imaging of aortic dissection in mice : from individual elastic lamella to 3D analysis
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Incidental or secondary findings in genetics : stairways to a life of certainty?
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Incidental or secondary findings : a patient perspective on additional genetic results
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Incidental or secondary findings : a dual bottom-up approach to the terminological debate
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Vascular aspects of the Ehlers-Danlos syndromes
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IRF2BPL is associated with neurological phenotypes
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- Journal Article
- A1
- open access
Natural history of vanishing white matter
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- Journal Article
- A1
- open access
Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway
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SAMMSON fosters cancer cell fitness by concertedly enhancing mitochondrial and cytosolic translation
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The cancer-associated microprotein CASIMO1 controls cell proliferation and interacts with squalene epoxidase modulating lipid droplet formation
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Shallow whole genome sequencing allows successful copy number profiling in formalin-fixed paraffin-embedded material in neuroblastoma patients
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Single CTC enrichment and isolation using Parsortix and DEPArray NxT
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The use of uroflowmetry combined with electromyography testing in healthy children
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Dopamine and LUTS
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Van gendervariatie tot genderdysforie : een wetenschappelijk kader getoetst
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A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment : BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy)
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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Tissue is the issue : when a second biopsy reveals the true diagnosis
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Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
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Paediatric acute disseminated encephalomyelitis followed by optic neuritis : disease course, treatment response and outcome
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Generation and validation of the first complete knockout model of abcc6a in zebrafish
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Uncovering the role of zebrafish in atm
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Uncovering the role of zebrafish in atm
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Uncovering the role of atm in zebrafish
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Abcc6a mutant zebrafish as a tool for compound screening for PXE
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Generation and validation of the first complete knockout model of abcc6a in zebrafish
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Generation and validation of the first complete knockout model of ABCC6A in zebrafish
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Onderzoek op PXE : het belang van zebravissen voor pseudoxanthoma elasticum
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Generation and validation of the first complete knockout model of abcc6a in zebrafish
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Generation and validation of a complete knockout model of abcc6a in zebrafish
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First complete knockout zebrafish model for pseudoxanthoma elasticum using CRISPR/Cas9
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- PhD Thesis
- open access
DNA copy number imbalances with clinical relevance in cancer : rare events in big data
(2018) -
CRISPR/Cas9 disease models in zebrafish and Xenopus : the genetic renaissance of fish and frogs
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Deciphering the origin of human embryonic stem cells and different pluripotency states
(2018) -
- Journal Article
- A1
- open access
In silico discovery of a FOXM1 driven embryonal signaling pathway in therapy resistant neuroblastoma tumors
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Chromosomal radiosensitivity and instability in triple negative and/or young breast cancer and Fanconi Anaemia patients in South Africa
(2018) -
Surgical repair of atrioventricular septal defects : incidence and mode of failure of the left atrioventricular valve
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Functional characterization of N-terminal TIMP3 mutation underlying Sorsby fundus dystrophy in Belgian and French pedigrees
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Antisense oligonucleotide-based splice correction of two neighboring deep-intronic ABCA4 mutations causing Stargardt disease
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Antisense oligonucleotide-based correction of deep-intronic ABCA4 splice mutations using patient-derived fibroblasts and photoreceptor precursor cells
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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- Journal Article
- A1
- open access
Point-of-care CRP matters : normal CRP levels reduce immediate antibiotic prescribing for acutely ill children in primary care : a cluster randomized controlled trial
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Congenital heart defects and cardiovascular risk in individuals who have a 45X/46XY karyotype
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Caring for teenagers : challenging yet rewarding
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Prenatal counselling of fetal congenital heart disease
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Medical devices marketed as medicins : safety and regulatory concerns in children
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Proandrogenic and antiandrogenic progestins in transgender youth : differential effects on body composition and bone metabolism
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Screening for osteogenic compounds using the zebrafish as a model
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- Journal Article
- A1
- open access
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence
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A variety of Alu-mediated copy number variations can underlie IL-12Rβ1 deficiency
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LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV
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Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations
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Results of a multicenter population pharmacokinetic study of ciprofloxacin in children with complicated urinary tract infection
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Deletion 6q drives T-cell leukemia progression by ribosome modulation
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- Journal Article
- A1
- open access
SHQ1 regulation of RNA splicing is required for T-lymphoblastic leukemia cell survival
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IQSEC2-related encephalopathy in males and females : a comparative study including 37 novel patients
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SmgGDS, a new piece in the thoracic aortic aneurysm and dissection puzzle
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- Journal Article
- A1
- open access
Differential gene expression analysis tools exhibit substandard performance for long non-coding RNA-sequencing data
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- Conference Paper
- C3
- open access
Differential gene expression analysis of RNA-sequencing data : evaluation of DGE tools for long non-coding RNA-sequencing data
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- Conference Paper
- C3
- open access
Probabilistic index models for testing differential gene expression in single-cell RNA-sequencing data
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Assessing the biological signal of different RNA fractions for computational deconvolution of healthy tissues
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Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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- Conference Paper
- C3
- open access
Therapeutic applications of SAMMSON lncRNA inhibition in uveal melanoma
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Exploring the contribution of gene dosage effects of 17q gain genes on hESC and neuroblastoma proliferation
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IncuCyte® : when real-time, automated live-cell imaging and analysis becomes easy
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Predisposing mutations in hippo signaling reveal an actionable target in Burkitt lymphoma
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- Journal Article
- A1
- open access
Genes at the crossroad of primary immunodeficiencies and cancer
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An accelerated, clinical-grade protocol to generate high yields of type 1-polarizing messenger RNA loaded dendritic cells for cancer vaccination
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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Identification of germline mutations in cancer predisposition genes in patients with a personal and/or family history of pancreatic cancer
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The neuroblastoma-specific lncRNA NESPR activates PHOX2B expression and is essential for neuroblastoma cell survival
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- Journal Article
- A1
- open access
The long non-coding RNA landscape in juvenile myelomonocytic leukemia
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- Conference Paper
- C3
- open access
Le project européen sur les toxines urémiques
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- Conference Paper
- C3
- open access
Le project Européen c4c
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- Journal Article
- A2
- open access
Targeted genomic screen reveals focal long non-coding RNA copy number alterations in cancer cell lines
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- Journal Article
- A1
- open access
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
(2018) PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 115(34). p.E8037-E8046 -
Molecular diagnosis of Common Variable Immunodeficiency and related antibody disorders : an integrated immunological and genetic approach
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- Journal Article
- A1
- open access
Ikaros family zinc finger 1 regulates dendritic cell development and function in humans
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Comprehensive pharmacological profiling in neuroblastoma cell lines using Deep Coverage Microscopy (DCM)
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Comprehensive pharmacological profiling in neuroblastoma cell lines using Deep Coverage Microscopy (DCM)
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Diagnosis of Fanconi Anaemia by ionising radiation- or mitomycin C-induced micronuclei
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Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
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- Journal Article
- A1
- open access
TSC-associated neuropsychiatric disorders (TAND) : findings from the TOSCA natural history study
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- Journal Article
- A2
- open access
ZEB proteins in leukemia : friends, foes, or friendly foes?
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Bone sarcomas : ESMO-PaedCan-EURACAN clinical practice guidelines for diagnosis, treatment and follow-up
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Interleukin 2 with anti-GD2 antibody ch14.18/CHO (dinutuximab beta) in patients with high-risk neuroblastoma (HR-NBL1/SIOPEN) : a multicentre, randomised, phase 3 trial
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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CRISPR/Cas9 mediated knockout of rcbtb1 in Xenopus tropicalis to model RCBTB1-associated retinal disease
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- Journal Article
- A1
- open access
Pre-clinical evaluation of second generation PIM inhibitors for the treatment of T-cell acute lymphoblastic leukemia and lymphoma
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2018 International consensus on cardiopulmonary resuscitation and emergency cardiovascular care science with treatment recommendations summary
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2018 International consensus on cardiopulmonary resuscitation and emergency cardiovascular care science with treatment recommendations summary
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Circulating microRNA biomarkers for metastatic disease in neuroblastoma patients
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The ornithine decarboxylase G316A promoter polymorphism impacts neuroblastoma clinical outcome and may identify patients particularly susceptible to polyamine inhibition
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Longitudinal evaluation of murine serum microRNAs as biomarkers for neuroblastoma burden and therapeutic TP53 reactivation
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Circulating microRNA biomarkers for metastatic neuroblastoma
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- Journal Article
- A2
- open access
Detecting long non-coding RNA biomarkers in prostate cancer liquid biopsies : hype or hope?
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Integrated proximal proteomics reveals IRS2 as a determinant of cell survival in ALK-driven neuroblastoma
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- Journal Article
- A1
- open access
Data Descriptor: Meta-mining of copy number profiles of high-risk neuroblastoma tumors
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Incidental or secondary findings : an integrative and patient-inclusive approach to the current debate
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A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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Fusion gene detection and variant calling in formalin-fixed paraffin-embedded tumor tissue using mRNA capture sequencing
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Non-invasive differential diagnosis of neuroblastoma with other paediatric solid tumors using methylation profiling of circulating cell-free DNA
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Non-invasive differential diagnosis of neuroblastoma with other paediatric solid tumors using methylation profiling of circulating cell-free DNA
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- Journal Article
- A1
- open access
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C > T mutation in MTFMT