Sonja A. De Munnik

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 39 publications

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B.

Clinically Irrelevant Terminal 16q21 Deletion Detected by NIPT Is Attributable to Inherited Fragility at FRA16B.

Journal: American journal of medical genetics. Part A

Published: July 30, 2025

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

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

IGF1 Haploinsufficiency: Phenotype and Response to Growth Hormone Treatment in 9 Patients.

Journal: Hormone research in paediatrics

Published: April 12, 2024

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Journal: Circulation. Genomic and precision medicine

Published: March 22, 2024

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Germ line ERG haploinsufficiency defines a new syndrome with cytopenia and hematological malignancy predisposition.

Journal: Blood

Published: March 19, 2024

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Journal: Nature communications

Published: December 08, 2023

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.

Journal: Blood advances

Published: December 04, 2023

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome.

Journal: Research square

Published: September 18, 2023

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.

Journal: Prenatal diagnosis

Published: October 07, 2022

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome.

Journal: Nature communications

Published: October 02, 2022

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.

Journal: American journal of human genetics

Published: July 08, 2022

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.

Journal: eLife

Published: March 08, 2022

Showing 1-12 of 39

Last Updated: 09/26/2026