Denny Popp

Leipzig, SN, Germany

Last Updated: 09/26/2026

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Found 37 publications

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.

Journal: Frontiers in endocrinology

Published: April 03, 2026

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Clinical and genetic diagnostic challenges in presumed hereditary ataxia.

Journal: Journal of neurology

Published: January 28, 2026

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

GAA-FGF14 Ataxia Is a Frequently Overlooked Cause of Sporadic Adult-Onset Ataxia.

Journal: Clinical genetics

Published: January 07, 2026

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.

Natural History of Clinical Phenotypes and Their Biochemical Correlates in Adult X-Linked Adrenoleukodystrophy.

Journal: Journal of inherited metabolic disease

Published: October 24, 2025

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.

Journal: NAR genomics and bioinformatics

Published: April 26, 2025

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals.

Journal: International journal of obesity (2005)

Published: September 27, 2024

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.

Incorporating Nanopore Sequencing Into a Diverse Diagnostic Toolkit for Incontinentia Pigmenti.

Journal: Human mutation

Published: July 29, 2024

Genome Sequencing for Diagnosing Rare Diseases.

Genome Sequencing for Diagnosing Rare Diseases.

Journal: The New England journal of medicine

Published: June 05, 2024

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Thiamine-Responsive Megaloblastic Anemia Syndrome Mimicking Myelodysplastic Neoplasm.

Journal: Acta haematologica

Published: May 16, 2024

Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.

Evaluation of Automated Magnetic Bead-Based DNA Extraction for Detection of Short Tandem Repeat Expansions With Nanopore Sequencing.

Journal: Journal of clinical laboratory analysis

Published: August 12, 2023

Recently evolved combination of unique sulfatase and amidase genes enables bacterial degradation of the wastewater micropollutant acesulfame worldwide.

Recently evolved combination of unique sulfatase and amidase genes enables bacterial degradation of the wastewater micropollutant acesulfame worldwide.

Journal: Frontiers in microbiology

Published: May 16, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Journal: American journal of human genetics

Published: February 23, 2023

Showing 1-12 of 37

Last Updated: 09/26/2026