Simone A. Van Den Heuvel

Nijmegen, GE, Netherlands

Last Updated: 09/26/2026

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Found 13 publications

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Clinical Long-Read Genome Sequencing for Rare-Disease Diagnostics.

Journal: The New England journal of medicine

Published: June 15, 2026

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

Genome-wide methylation detection and episignature analysis using PacBio long-read sequencing.

Journal: Genome medicine

Published: September 16, 2024

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

Journal: American journal of human genetics

Published: August 31, 2024

The Effect of Topical Capsaicin 8% on Pain in Chemotherapy-induced Peripheral Neuropathy.

The Effect of Topical Capsaicin 8% on Pain in Chemotherapy-induced Peripheral Neuropathy.

Journal: Pain management nursing : official journal of the American Society of Pain Management Nurses

Published: April 06, 2024

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing.

Journal: Genome research

Published: March 28, 2024

A qualitative evaluation of the oncologists', neurologists', and pain specialists' views on the management and care of chemotherapy-induced peripheral neuropathy in The Netherlands.

A qualitative evaluation of the oncologists', neurologists', and pain specialists' views on the management and care of chemotherapy-induced peripheral neuropathy in The Netherlands.

Journal: Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer

Published: November 17, 2023

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

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Journal: Genome medicine

Published: December 20, 2021

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9.

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9.

Journal: Molecular therapy. Nucleic acids

Published: August 12, 2020

Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.

Validation of two-channel sequencing-by-synthesis for noninvasive prenatal testing of fetal whole and partial chromosome aberrations.

Journal: Prenatal diagnosis

Published: October 28, 2015

The in vitro mechanisms and in vivo efficacy of intravenous lidocaine on the neuroinflammatory response in acute and chronic pain.

The in vitro mechanisms and in vivo efficacy of intravenous lidocaine on the neuroinflammatory response in acute and chronic pain.

Journal: European journal of pain (London, England)

Published: August 17, 2015

Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

Monochorionic dizygous twins presenting with blood chimerism and discordant sex.

Journal: Twin research and human genetics : the official journal of the International Society for Twin Studies

Published: June 18, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026