Ingo Kurth

Aachen, NW, Germany

Last Updated: 09/26/2026

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Found 152 publications

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Exome and Genome Sequencing for the Diagnosis of Rare Diseases.

Journal: Deutsches Arzteblatt international

Published: March 19, 2026

Functional impact of the TRPA1 H560D variant on neuropathic pain.

Functional impact of the TRPA1 H560D variant on neuropathic pain.

Journal: Pain

Published: January 24, 2026

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 19, 2025

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Journal: Clinical genetics

Published: October 08, 2025

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms.

Journal: Blood cancer journal

Published: September 18, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene.

Journal: Neurogenetics

Published: June 11, 2025

Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing.

Structural variations in evolutionary novel genomic regions: new insights into neurodevelopmental disorders by long-read DNA Sequencing.

Journal: Molecular medicine (Cambridge, Mass.)

Published: June 10, 2025

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.

Journal: Blood cancer journal

Published: May 16, 2025

Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain.

Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain.

Journal: Neuropediatrics

Published: April 28, 2025

Showing 1-12 of 152

Last Updated: 09/26/2026