Emmelien Aten

Department Of Otorhinolaryngology Head And Neck Surgery
Leiden, ZH 2333ZA, Netherlands

Last Updated: 09/26/2026

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Found 28 publications

Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire.

Determinants of the quality of life of patients with NF2-related schwannomatosis and validation of the Dutch NFTI-QOL questionnaire.

Journal: Familial cancer

Published: April 03, 2026

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: October 19, 2025

Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Genetic Alterations in Patients with NF2-Related Schwannomatosis and Sporadic Vestibular Schwannomas.

Journal: Cancers

Published: December 03, 2024

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis.

Journal: Experimental and molecular pathology

Published: April 30, 2024

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Atypical Progeria Primarily Manifesting as Premature Cardiac Valvular Disease Segregates with LMNA-Gene Variants.

Journal: Journal of cardiovascular development and disease

Published: December 30, 2023

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.

Journal: European journal of medical genetics

Published: December 12, 2022

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Journal: American journal of human genetics

Published: November 23, 2022

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

Journal: Human mutation

Published: December 09, 2021

Response to Thibodeau and Langlois.

Response to Thibodeau and Langlois.

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

Published: August 20, 2020

Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.

Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.

Journal: Journal of medical genetics

Published: November 15, 2019

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.

The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.

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

Published: November 07, 2019

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder.

Journal: American journal of human genetics

Published: September 23, 2019

Showing 1-12 of 28

Last Updated: 09/26/2026