ERD

Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

Project: Solve-RD

Updated at: 06-08-2024

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Project acronym Solve-RD

Genome sequencing as a generic diagnostic strategy for rare disease

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Periodic Reporting for period 4 - Solve-RD (Solving the unsolved Rare Diseases)

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care...

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn sy...

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global...

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Project: Solve-RD

Updated at: 30-06-2024

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Project acronym Solve-RD

Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

Project: Solve-RD

Updated at: 11-05-2024

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Project acronym Solve-RD

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

Project: Solve-RD

Updated at: 11-05-2024

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Project acronym Solve-RD

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

Project: Solve-RD

Updated at: 11-05-2024

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Project acronym Solve-RD

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myop...

Project: Solve-RD

Updated at: 11-05-2024

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Project acronym Solve-RD

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus c...

Project: Solve-RD

Updated at: 11-05-2024

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Project acronym Solve-RD

Publication: EBCD findings in at least 2 different HCPs including in one ERN

Project: Solve-RD

Updated at: 09-04-2024

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Project acronym Solve-RD

Publication: Synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS

Project: Solve-RD

Updated at: 09-04-2024

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Project acronym Solve-RD

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

Project: Solve-RD

Updated at: 09-04-2024

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Project acronym Solve-RD

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and ...

Project: Solve-RD

Updated at: 01-04-2024

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Project acronym Solve-RD

Complete Solve-RD bioinformatics platform operational

Project: Solve-RD

Updated at: 31-03-2024

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Project acronym Solve-RD

4 workshops, videoconferences and jamborees for hands-on discussion on diagnostic hypothesis

Project: Solve-RD

Updated at: 31-03-2024

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Project acronym Solve-RD

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological ...

Project: Solve-RD

Updated at: 31-03-2024

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Project acronym Solve-RD

3.500 collected data sets from associated ERNs and undiagnosed disease programmes

Project: Solve-RD

Updated at: 31-03-2024

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Project acronym Solve-RD

Distinct features in adult polyglucosan body disease: a case series

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multic...

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental diso...

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical fe...

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants...

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects

Project: Solve-RD

Updated at: 01-01-2024

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Project acronym Solve-RD

Resources

Selected filters:

Novel OBSCN variants associated with a risk to exercise-intolerance and rhabdomyolysis

Genome sequencing as a generic diagnostic strategy for rare disease

Periodic Reporting for period 4 - Solve-RD (Solving the unsolved Rare Diseases)

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care...

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn sy...

Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global...

Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease

Term-BLAST-like alignment tool for concept recognition in noisy clinical texts

RFC1 repeat expansions in downbeat nystagmus syndromes: frequency and phenotypic profile

Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myop...

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus c...

Publication: EBCD findings in at least 2 different HCPs including in one ERN

Publication: Synthesis of existing studies assessing cost effectiveness and clinical utility of WES/WGS

BIOMARKERS FOR NEURODEGENERATIVE AND/OR NEUROMUSCULAR DISEASES

DMD deletions underlining mild dystrophinopathies: literature review highlights phenotype-related mutation clusters and ...

Complete Solve-RD bioinformatics platform operational

4 workshops, videoconferences and jamborees for hands-on discussion on diagnostic hypothesis

Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological ...

3.500 collected data sets from associated ERNs and undiagnosed disease programmes

Distinct features in adult polyglucosan body disease: a case series

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multic...

DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental diso...

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical fe...

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants...

Downregulation of PMP22 ameliorates myelin defects in iPSC-derived human organoid cultures of CMT1A

Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects