Sanne C. Savelberg

Utrecht, UT 3584EA, Netherlands

Last Updated: 09/26/2026

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Found 14 publications

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Broad Vitamin B6-Related Metabolic Disturbances in a Zebrafish Model of Hypophosphatasia (TNSALP-Deficiency).

Journal: International journal of molecular sciences

Published: March 03, 2025

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like Phenotype.

Journal: Nephron

Published: December 21, 2024

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: July 23, 2019

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: April 21, 2019

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.

Journal: Nature communications

Published: January 31, 2019

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

Assessment of parental mosaicism in SCN1A-related epilepsy by single-molecule molecular inversion probes and next-generation sequencing.

Journal: Journal of medical genetics

Published: August 08, 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

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders.

Journal: Disease models & mechanisms

Published: May 01, 2018

Identification of human D lactate dehydrogenase deficiency.

Identification of human D lactate dehydrogenase deficiency.

Journal: Nature communications

Published: April 11, 2018

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.

Journal: Epilepsia

Published: January 16, 2018

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

Journal: Human molecular genetics

Published: December 11, 2015

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.

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

Published: August 26, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026