Stephanie E. Smetsers

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 19 publications

The Histological Spectrum of DICER1-Associated Neoplasms.

The Histological Spectrum of DICER1-Associated Neoplasms.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society

Published: April 15, 2025

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

A germline PDGFRB splice site variant associated with infantile myofibromatosis and resistance to imatinib.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 11, 2024

Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.

Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.

Journal: The Lancet. Child & adolescent health

Published: March 25, 2024

Small cell osteosarcoma versus fusion-driven round cell sarcomas of bone: retrospective clinical, radiological, pathological, and (epi)genetic comparison with clinical implications.

Small cell osteosarcoma versus fusion-driven round cell sarcomas of bone: retrospective clinical, radiological, pathological, and (epi)genetic comparison with clinical implications.

Journal: Virchows Archiv : an international journal of pathology

Published: October 13, 2023

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome-A Systematic Review.

Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Patient Characteristics, Treatment, and Outcome-A Systematic Review.

Journal: Cancers

Published: June 26, 2023

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.

Journal: Journal of pediatric surgery

Published: June 13, 2023

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia.

Predictors of outcomes in hematopoietic cell transplantation for Fanconi anemia.

Journal: Bone marrow transplantation

Published: March 15, 2023

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.

Journal: JAMA network open

Published: February 03, 2023

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.

Genetic testing and surveillance in infantile myofibromatosis: a report from the SIOPE Host Genome Working Group.

Journal: Familial cancer

Published: June 17, 2020

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers.

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 06, 2018

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Questions.

Hyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Questions.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 06, 2018

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.

Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.

Journal: British journal of haematology

Published: May 17, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026