Lynne Rumping

Seroconversion to HCoV-NL63 in Rhesus Macaques

M. Deijs, L. van der Hoek, R. Dijkman, 2009, Viruses.

Inborn errors of enzymes in glutamate metabolism

R. Houwen, J. Jans, P. V. van Hasselt, 2019, Journal of inherited metabolic disease.

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

R. Houwen, J. Jans, R. Fingerhut, 2019, JAMA neurology.

Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.

R. Houwen, M. Pras-Raves, J. Jans, 2019, Biochimica et biophysica acta. General subjects.

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

P. Pouwels, Q. Waisfisz, J. M. van de Kamp, 2023, JIMD reports.

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

S. Robertson, J. Saris, M. V. van Slegtenhorst, 2021, American journal of medical genetics. Part A.

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

Rachel L. Taylor, P. Pouwels, R. Houwen, 2018, Human molecular genetics.

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

J. Jans, P. V. van Hasselt, Lynne Rumping, 2019, New England Journal of Medicine.

Multicenter Clinical and Functional Evidence Reclassifies a Recurrent Non-canonical Filamin C Splice-altering Variant.

L. Mestroni, D. Roden, D. Fatkin, 2023, Heart rhythm.