Saskia M. Maas

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 77 publications

Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.

Clinical and Molecular Characterization of 46 Patients With Beckwith-Wiedemann Spectrum and Uniparental Disomy of 11p15.

Journal: American journal of medical genetics. Part A

Published: May 01, 2026

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal: Journal of dermatological science

Published: October 17, 2025

Growth Charts for Children With Beckwith-Wiedemann Spectrum.

Growth Charts for Children With Beckwith-Wiedemann Spectrum.

Journal: American journal of medical genetics. Part A

Published: October 28, 2024

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature.

Journal: HGG advances

Published: September 05, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

DDX3X-related neurodevelopmental disorder in males - presenting a new cohort of 19 males and a literature review.

Journal: European journal of human genetics : EJHG

Published: May 31, 2024

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis.

Journal: Clinical epigenetics

Published: April 25, 2024

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis.

Journal: American journal of respiratory and critical care medicine

Published: April 16, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Journal: Annals of neurology

Published: November 16, 2023

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.

Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.

Journal: International journal of molecular sciences

Published: August 17, 2023

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.

Journal: Clinical obesity

Published: August 09, 2023

Showing 1-12 of 77

Last Updated: 09/26/2026