Egbert W. Redeker
Amsterdam, NH, Netherlands
Last Updated: 09/26/2026
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Found 14 publications
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.
Journal: Hereditary cancer in clinical practice
Published: July 02, 2023
Framing the potential of public frameshift peptides as immunotherapy targets in colon cancer.
Journal: PloS one
Published: June 23, 2020
Stüve-Wiedemann syndrome: recurrent neonatal infections caused by impairment of JAK/STAT 3 pathway.
Journal: Clinical dysmorphology
Published: January 08, 2019
Cancer Risks for PMS2-Associated Lynch Syndrome.
Journal: Journal of clinical oncology : official journal of the American Society of Clinical Oncology
Published: August 31, 2018
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Journal: Nature reviews. Genetics
Published: July 12, 2018
With expanded carrier screening, founder populations run the risk of being overlooked.
Journal: Journal of community genetics
Published: February 24, 2017
Phenotypes and genotypes in individuals with SMC1A variants.
Journal: American journal of medical genetics. Part A
Published: January 11, 2017
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
Journal: BMC medical genomics
Published: July 10, 2015
Targeted carrier screening for four recessive disorders: high detection rate within a founder population.
Journal: European journal of medical genetics
Published: November 12, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal: Journal of medical genetics
Published: August 16, 2014
Last Updated: 09/26/2026