Search Results - "Waanders, Esme"
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High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer
Published in Clinical cancer research (01-04-2018)“…In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of…”
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2
Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations
Published in Haematologica (Roma) (01-12-2021)“…Genomic studies of pediatric acute lymphoblastic leukemia (ALL) have shown remarkable heterogeneity in initial diagnosis, with multiple (sub)clones harboring…”
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3
Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL
Published in Blood (10-10-2013)“…Most relapses in childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) are not predicted using current prognostic features. Here, we determined the…”
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4
Recognition of genetic predisposition in pediatric cancer patients: An easy-to-use selection tool
Published in European journal of medical genetics (01-03-2016)“…Abstract Genetic predisposition for childhood cancer is under diagnosed. Identifying these patients may lead to therapy adjustments in case of syndrome-related…”
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5
Relapse-Fated Latent Diagnosis Subclones in Acute B Lineage Leukemia Are Drug Tolerant and Possess Distinct Metabolic Programs
Published in Cancer discovery (01-04-2020)“…Disease recurrence causes significant mortality in B-progenitor acute lymphoblastic leukemia (B-ALL). Genomic analysis of matched diagnosis and relapse samples…”
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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors
Published in The Journal of pathology (01-10-2021)“…In a subset of pediatric cancers, a germline cancer predisposition is highly suspected based on clinical and pathological findings, but genetic evidence is…”
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TRIM28 haploinsufficiency predisposes to Wilms tumor
Published in International journal of cancer (15-08-2019)“…Two percent of patients with Wilms tumors have a positive family history. In many of these cases the genetic cause remains unresolved. By applying germline…”
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Outcome of children with hypodiploid ALL treated with risk-directed therapy based on MRD levels
Published in Blood (24-12-2015)Get full text
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9
Mutational Landscape and Patterns of Clonal Evolution in Relapsed Pediatric Acute Lymphoblastic Leukemia
Published in Blood cancer discovery (01-07-2020)Get full text
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10
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
Published in American journal of human genetics (04-04-2019)“…By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three…”
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Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
Published in British journal of haematology (01-01-2023)“…Summary Erythrocytosis is associated with increased red blood cell mass and can be either congenital or acquired. Congenital secondary causes are rare and…”
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The origin and nature of tightly clustered BTG1 deletions in precursor B-cell acute lymphoblastic leukemia support a model of multiclonal evolution
Published in PLoS genetics (01-02-2012)“…Recurrent submicroscopic deletions in genes affecting key cellular pathways are a hallmark of pediatric acute lymphoblastic leukemia (ALL). To gain more…”
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13
A RAG driver on the road to pediatric ALL
Published in Nature genetics (01-02-2014)“…Genomic aberrations affecting genes in B cell differentiation are hallmarks of B-precursor acute lymphoblastic leukemia (ALL). A new whole-genome sequencing…”
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14
On the monophyly of chromalveolates using a six-protein phylogeny of eukaryotes
Published in International journal of systematic and evolutionary microbiology (01-01-2005)“…Canadian Institute for Advanced Research, Department of Botany, University of British Columbia, 3529-6270 University Boulevard, Vancouver, BC, Canada V6T 1Z4…”
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European standard clinical practice – Key issues for the medical care of individuals with familial leukemia
Published in European journal of medical genetics (01-04-2023)“…Although hematologic malignancies (HM) are no longer considered exclusively sporadic, additional awareness of familial cases has yet to be created. Individuals…”
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16
Characteristics of white blood cell count in acute lymphoblastic leukemia: A COST LEGEND phenotype–genotype study
Published in Pediatric blood & cancer (01-06-2022)“…Background White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well‐known prognostic factor in acute lymphoblastic leukemia…”
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Clonal dynamics in pediatric B‐cell precursor acute lymphoblastic leukemia with very early relapse
Published in Pediatric blood & cancer (01-01-2022)“…Introduction One‐quarter of the relapses in children with B‐cell precursor acute lymphoblastic leukemia (BCP‐ALL) occur very early (within 18 months, before…”
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Accurate detection of low-level mosaic mutations in pediatric acute lymphoblastic leukemia using single molecule tagging and deep-sequencing
Published in Leukemia & lymphoma (03-07-2018)“…Pathogenic mutations in relapse-associated genes in pediatric acute lymphoblastic leukemia may improve risk stratification when detected at subclonal levels at…”
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Late Recurrence of Childhood T-Cell Acute Lymphoblastic Leukemia Frequently Represents a Second Leukemia Rather Than a Relapse: First Evidence for Genetic Predisposition
Published in Journal of clinical oncology (20-04-2011)“…Relapse of childhood T-cell acute lymphoblastic leukemia (T-ALL) often occurs during treatment, but in some cases, leukemia re-emerges off therapy. On the…”
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Congenital disorders of glycosylation in hepatology: The example of polycystic liver disease
Published in Journal of hepatology (01-03-2010)“…Autosomal dominant polycystic liver disease (PCLD) is a rare progressive disorder characterized by an increased liver volume due to many (>20) fluid-filled…”
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