Elke J. De Boer

Nijmegen, GE 6525GA, Netherlands

Last Updated: 09/26/2026

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Found 43 publications

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants.

Journal: Clinical genetics
Published: January 23, 2026

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Journal: Nature medicine
Published: June 19, 2025

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review.

Journal: American journal of medical genetics. Part A
Published: April 14, 2025

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).

Journal: Lab animal
Published: June 24, 2024

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.

Journal: The Journal of clinical investigation
Published: April 26, 2024

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG
Published: April 02, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics
Published: April 01, 2024

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Journal: NPJ genomic medicine
Published: February 14, 2024

Natural history of adults with KBG syndrome: A physician-reported experience.

Natural history of adults with KBG syndrome: A physician-reported experience.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 31, 2024

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples.

Journal: European journal of human genetics : EJHG
Published: November 17, 2023

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 02, 2023

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.

Journal: European journal of human genetics : EJHG
Published: June 16, 2023
Showing 1-12 of 43

Last Updated: 09/26/2026