Susanne Motameny

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 39 publications

SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data.

SV-MeCa: an XGBoost-based meta-caller approach for structural variant calling from short-read data.

Journal: BMC bioinformatics

Published: March 20, 2025

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.

NCBench: providing an open, reproducible, transparent, adaptable, and continuous benchmark approach for DNA-sequencing-based variant calling.

Journal: F1000Research

Published: August 27, 2024

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.

A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa.

Journal: Journal of medicine and life

Published: February 19, 2024

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Systematic assessment of COVID-19 host genetics using whole genome sequencing data.

Journal: PLoS pathogens

Published: February 17, 2024

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Journal: PLoS genetics

Published: April 06, 2022

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

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

Published: December 29, 2021

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.

Journal: HGG advances

Published: November 29, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

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

Published: March 19, 2021

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.

Long-lived macrophage reprogramming drives spike protein-mediated inflammasome activation in COVID-19.

Journal: EMBO molecular medicine

Published: February 17, 2021

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.

Journal: Human mutation

Published: October 08, 2020

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours.

Journal: American journal of medical genetics. Part A

Published: September 15, 2020

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 20, 2020

Showing 1-12 of 39

Last Updated: 09/26/2026