Mariette V. Hoffer

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 57 publications

Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.

Two new cases of KYNU deficiency: Further delineation of the phenotypic and biochemical spectrum and exploration of treatment options.

Journal: Molecular genetics and metabolism

Published: May 28, 2025

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Journal: Neuromuscular disorders : NMD

Published: May 28, 2025

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Prenatal Variants of Uncertain Significance (VUS): to report or not to report?

Journal: European journal of human genetics : EJHG

Published: February 20, 2025

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Bi-allelic deleterious variants in SNAPIN, which encodes a retrograde dynein adaptor, cause a prenatal-onset neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 24, 2024

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Confined Placental Mosaicism Detected With Non-Invasive Prenatal Testing: Is There an Association Between Mosaic Ratio and Pregnancy Outcome?

Journal: Prenatal diagnosis

Published: July 03, 2024

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study.

Clinical Outcome and Risk Factors for Progression of Prenatally Diagnosed Fetal Ventriculomegaly: A Retrospective Multicenter Study.

Journal: Prenatal diagnosis

Published: February 13, 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

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.

The role of confined placental mosaicism in fetal growth restriction: A retrospective cohort study.

Journal: Prenatal diagnosis

Published: December 06, 2023

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

Journal: American journal of medical genetics. Part A

Published: June 13, 2023

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

Journal: American journal of medical genetics. Part A

Published: November 28, 2022

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.

Journal: American journal of human genetics

Published: November 28, 2022

Showing 1-12 of 57

Last Updated: 09/26/2026