Martina Wilke

Rotterdam, ZH, Netherlands

Last Updated: 09/26/2026

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Found 44 publications

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family.

Expansion of the phenotype in ZFX neurodevelopmental disorder in a family.

Journal: European journal of medical genetics

Published: April 29, 2025

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

Disease characteristics of SEPSECS deficiency: an international, retrospective, multicenter cohort study.

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

Published: April 02, 2025

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making.

Journal: European journal of human genetics : EJHG

Published: March 24, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.

Journal: HGG advances

Published: February 27, 2025

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: February 13, 2025

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations.

Journal: American journal of human genetics

Published: September 13, 2024

Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

Two novel variants in GRN: the relevance of CNV analysis and genetic screening in FTLD patients with a negative family history.

Journal: Journal of neurology

Published: September 13, 2024

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies.

Journal: Prenatal diagnosis

Published: July 10, 2024

Showing 1-12 of 44

Last Updated: 09/26/2026