Jurgen Neesen - Publications

TMC6/8-associated epidermodysplasia verruciformis: germline variants and a complex structural alteration in a skin cancer predisposition syndrome.

Journal: European journal of human genetics : EJHG

Published: October 15, 2025

OMKar: optical map based automated karyotyping of genomes to identify constitutional abnormalities.

Journal: medRxiv : the preprint server for health sciences

Published: February 24, 2025

OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities.

Journal: Genome research

Published: February 13, 2025

Retrospective study on the utility of optical genome mapping as a follow-up method in genetic diagnostics.

Journal: Journal of medical genetics

Published: July 22, 2024

Aneuploidy detection in pooled polar bodies using rapid nanopore sequencing.

Journal: Journal of assisted reproduction and genetics

Published: November 23, 2023

Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: November 09, 2023

Late stage melanoma is hallmarked by low NLGN4X expression leading to HIF1A accumulation.

Journal: British journal of cancer

Published: August 21, 2023

Outcome after Prenatal Diagnosis of Trisomy 13, 18, and 21 in Fetuses with Congenital Heart Disease.

Journal: Life (Basel, Switzerland)

Published: July 16, 2022

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Journal: Human genetics

Published: June 16, 2022

Optical Genome Mapping in Routine Human Genetic Diagnostics-Its Advantages and Limitations.

Journal: Genes

Published: November 16, 2021

Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation.

Journal: Genes

Published: October 27, 2021

Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.

Journal: European journal of human genetics : EJHG

Published: March 17, 2021