Lynne Rumping

Amsterdam, NH, Netherlands

Last Updated: 09/26/2026

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Found 12 publications

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.

Journal: European journal of human genetics : EJHG

Published: March 04, 2025

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

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.

Journal: JIMD reports

Published: October 19, 2022

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.

Multicenter clinical and functional evidence reclassifies a recurrent noncanonical filamin C splice-altering variant.

Journal: Heart rhythm

Published: September 27, 2022

"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.

"Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.

Journal: European journal of human genetics : EJHG

Published: July 07, 2022

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Journal: American journal of medical genetics. Part A

Published: February 25, 2021

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

Journal: The New England journal of medicine

Published: September 19, 2019

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

Journal: Biochimica et biophysica acta. General subjects

Published: May 15, 2019

Inborn errors of enzymes in glutamate metabolism.

Inborn errors of enzymes in glutamate metabolism.

Journal: Journal of inherited metabolic disease

Published: March 14, 2019

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Journal: JAMA neurology

Published: December 22, 2018

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Journal: Human molecular genetics

Published: August 07, 2018

Hereditary fructose intolerance

Hereditary fructose intolerance

Journal: Nederlands tijdschrift voor geneeskunde

Published: March 06, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026