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Person

Ingo Kurth (1974-)

Arzt

Name	Ingo Kurth
Time	1974- (Date of birth and death)
Place	Deutschland
Gender	männlich
Academic degree	Dr. med.
Profession	Arzt (characteristic profession)
Related	Universitätsklinikum Hamburg-Eppendorf Universitätsklinikum Jena. Institut für Humangenetik
Further information	Diss. Rheinisch-Westfälische Technische Hochschule Aachen, Medizinische Fakultät, 2003 Univ. Hamburg, Medizinische Fak., Universitätsklinikum Hamburg-Eppendorf, Zentrum für Geburtshilfe, Kinder- und Jugendmedizin, Inst. für Humangenetik, Arbeitsgruppe Funtionelle Genetik
Record type	Person
GND-Identifier	124971024
Record ID	124971024
Involved in show all Frequent and clinically relevant germline DNA repair gene variants in young and familial myeloproliferative neoplasms Familial cerebral cavernous malformations caused by a novel germline structural variant in the KRIT1 gene Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders Auswirkung einer bislang unbekannten Deletionsmutation des Spleißfaktors SRRM4 auf die Synthese der neuronalen Isoform von Protrudin Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants Label-free single-cell RNA multiplexing leveraging genetic variability Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Stand der humangenetischen Versorgung in der Pädiatrie : Antworten auf die zwölf wichtigsten Fragen Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study Differenzierung von humanen induzierten pluripotenten Stammzellen in Endothelzellen nach CRISPR/Cas9-vermittelter Inaktivierung von CCM1, CCM2 und CCM3 GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases Human genetic diagnostics in oncologic diseases. Importance of tumor risk syndromes for treatment and prevention Label-free single-cell RNA multiplexing leveraging genetic variability Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings Systematic assessment of COVID-19 host genetics using whole genome sequencing data Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity Single-cell, whole-embryo phenotyping of mammalian developmental disorders Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach 3-jähriger Patient mit bilateralen Wilms-Tumoren : Vorbereitung auf die Facharztprüfung: Fall 107 Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39 A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling Isolation and transfection of myenteric neurons from mice for patch-clamp applications Novel homozygous nonsense mutation in the P5′N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39 Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven Unusual phenotypes in patients with a pathogenic germline variant in DICER1 Genome sequencing in families with congenital limb malformations ARL6IP1 in endoplasmic reticulum homeostasis and axonal maintenance Assessing the impact of pain-linked Nav1.7 variants : An example of two variants with no biophysical effect Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study Differential diagnosis of vacuolar myopathies in the NGS era Swarm Learning for decentralized and confidential clinical machine learning Swarm Learning for decentralized and confidential clinical machine learning The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells

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Katalog der Deutschen Nationalbibliothek

Ingo Kurth (1974-)

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

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

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

Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention

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

Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors

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

Auswirkung einer bislang unbekannten Deletionsmutation des Spleißfaktors SRRM4 auf die Synthese der neuronalen Isoform von Protrudin

Comprehensive Genetic Testing for Clinical Decision-Making in a Patient With Congenital Hyperinsulinism

Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort

Mutational constraint analysis workflow for overlapping short open reading frames and genomic neighbors

CNVizard—a lightweight streamlit application for an interactive analysis of copy number variants

Label-free single-cell RNA multiplexing leveraging genetic variability

Humangenetische Diagnostik bei onkologischen Erkrankungen : Bedeutung von Tumorrisikosyndromen für Therapie und Prävention

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

Stand der humangenetischen Versorgung in der Pädiatrie : Antworten auf die zwölf wichtigsten Fragen

Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study

Differenzierung von humanen induzierten pluripotenten Stammzellen in Endothelzellen nach CRISPR/Cas9-vermittelter Inaktivierung von CCM1, CCM2 und CCM3

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

Human genetic diagnostics in oncologic diseases. Importance of tumor risk syndromes for treatment and prevention

Label-free single-cell RNA multiplexing leveraging genetic variability

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

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

Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity

Single-cell, whole-embryo phenotyping of mammalian developmental disorders

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

3-jähriger Patient mit bilateralen Wilms-Tumoren : Vorbereitung auf die Facharztprüfung: Fall 107

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases

Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort

DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

Functional connectivity signatures of NMDAR dysfunction in schizophrenia—integrating findings from imaging genetics and pharmaco-fMRI

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy

Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

Peripheral temperature dysregulation associated with functionally altered NaV1.8 channels

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon

Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives

Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

Isolation and transfection of myenteric neurons from mice for patch-clamp applications

Novel homozygous nonsense mutation in the P5′N-1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39

Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder

Exomsequenzierung bei Kindern und Jugendlichen mit seltenen Erkrankungen : Aktueller Stand, Herausforderungen, Perspektiven

Unusual phenotypes in patients with a pathogenic germline variant in DICER1

Genome sequencing in families with congenital limb malformations

ARL6IP1 in endoplasmic reticulum homeostasis and axonal maintenance

Assessing the impact of pain-linked Nav1.7 variants : An example of two variants with no biophysical effect

Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study

Diagnosing small fiber neuropathy in clinical practice: a deep phenotyping study

Differential diagnosis of vacuolar myopathies in the NGS era

Swarm Learning for decentralized and confidential clinical machine learning

Swarm Learning for decentralized and confidential clinical machine learning

The difficulty to model Huntington’s disease in vitro using striatal medium spiny neurons differentiated from human induced pluripotent stem cells