Maarten G. Massink

Utrecht, UT, Netherlands

Last Updated: 09/26/2026

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Found 25 publications

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Journal: American journal of human genetics

Published: March 11, 2026

Genetic Landscape of Robin Sequence: A Systematic Review.

Genetic Landscape of Robin Sequence: A Systematic Review.

Journal: Clinical genetics

Published: July 30, 2025

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.

Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes-ENG and ACVRL1.

Journal: Human mutation

Published: March 19, 2024

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.

Journal: ERJ open research

Published: July 25, 2023

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.

Journal: Molecular syndromology

Published: September 07, 2022

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.

Concurrent de novo ZFHX4 variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of ZFHX4 and USP10.

Journal: American journal of medical genetics. Part A

Published: August 04, 2022

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.

Journal: American journal of human genetics

Published: February 09, 2022

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Telomere dysfunction implicates POT1 in patients with idiopathic pulmonary fibrosis.

Journal: The Journal of experimental medicine

Published: August 06, 2021

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

NAA80 bi-allelic missense variants result in high-frequency hearing loss, muscle weakness and developmental delay.

Journal: Brain communications

Published: March 24, 2021

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.

Journal: Clinical genetics

Published: February 28, 2020

Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1.

Pulmonary fibrosis linked to variants in the ACD gene, encoding the telomere protein TPP1.

Journal: The European respiratory journal

Published: April 23, 2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Journal: Nature communications

Published: January 31, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026