Stefan J. White

Leiden, ZH, Netherlands

Last Updated: 09/26/2026

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Found 32 publications

Breakpoint characterization of a rare alpha0 -thalassemia deletion using targeted locus amplification on genomic DNA.

Breakpoint characterization of a rare alpha0 -thalassemia deletion using targeted locus amplification on genomic DNA.

Journal: International journal of laboratory hematology

Published: April 02, 2021

Reduced PRC2 function alters male germline epigenetic programming and paternal inheritance.

Reduced PRC2 function alters male germline epigenetic programming and paternal inheritance.

Journal: BMC biology

Published: July 10, 2018

Loss of maternal EED results in postnatal overgrowth.

Loss of maternal EED results in postnatal overgrowth.

Journal: Clinical epigenetics

Published: April 19, 2018

Skewed X-inactivation is common in the general female population.

Skewed X-inactivation is common in the general female population.

Journal: European journal of human genetics : EJHG

Published: April 17, 2018

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

Rare variants in non-coding regulatory regions of the genome that affect gene expression in systemic lupus erythematosus.

Journal: Scientific reports

Published: October 27, 2017

Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).

Genotyping Multiallelic Copy Number Variation with Multiplex Ligation-Dependent Probe Amplification (MLPA).

Journal: Methods in molecular biology (Clifton, N.J.)

Published: November 09, 2016

Quantitative DNA Analysis Using Droplet Digital PCR.

Quantitative DNA Analysis Using Droplet Digital PCR.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: November 09, 2016

Targeted Locus Amplification and Next-Generation Sequencing.

Targeted Locus Amplification and Next-Generation Sequencing.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: November 09, 2016

Critical points for an accurate human genome analysis.

Critical points for an accurate human genome analysis.

Journal: Human mutation

Published: September 12, 2016

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.

Journal: Human mutation

Published: July 05, 2016

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).

Journal: Journal of neuroinflammation

Published: January 15, 2016

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.

Journal: Stem cells and development

Published: November 27, 2015

Showing 1-12 of 32

Last Updated: 09/26/2026