Marcel R. Nelen

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 42 publications

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling.

Journal: Human molecular genetics

Published: January 30, 2025

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Newborn Screening by DNA-First: Systematic Evaluation of the Eligibility of Inherited Metabolic Disorders Based on Treatability.

Journal: International journal of neonatal screening

Published: October 14, 2024

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Journal: International journal of neonatal screening

Published: January 22, 2024

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.

Journal: Frontiers in genetics

Published: September 29, 2023

Genome sequencing as a generic diagnostic strategy for rare disease.

Genome sequencing as a generic diagnostic strategy for rare disease.

Journal: Genome medicine

Published: September 21, 2023

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

Journal: Human genomics

Published: January 17, 2023

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: December 03, 2022

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

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

Published: July 19, 2022

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

The performance of genome sequencing as a first-tier test for neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: June 07, 2022

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Journal: European journal of pediatrics

Published: June 02, 2022

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Diagnostic analysis of the highly complex OPN1LW/OPN1MW gene cluster using long-read sequencing and MLPA.

Journal: NPJ genomic medicine

Published: February 25, 2022

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene.

Journal: Blood advances

Published: February 04, 2022

Showing 1-12 of 42

Last Updated: 09/26/2026