ERD

Remote visualization of large scale genomic alignments for collaborative clinical research and diagnosis of rare disease...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Treatabolome database

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Guidelines for collection of experimental data

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Bespoke Phenotips frontends for associated ERNs and undiagnosed disease programmes

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Guidelines for molecular genetics of rare disorders

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein S...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial d...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patient...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Metadata catalog operational, with initial content

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case rep...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Small heat shock proteins in neurodegenerative diseases.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Somatic mutational signatures in polyposis and colorectal cancer

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Long-Read Sequencing Emerging in Medical Genetics

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Central RD-Connect database serving Solve-RD, including user authentication and authorization

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Resources

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Remote visualization of large scale genomic alignments for collaborative clinical research and diagnosis of rare disease...

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease

Impairment of Lysosome Function and Autophagy in Rare Neurodegenerative Diseases

Treatabolome database

Guidelines for collection of experimental data

BAG3 Pro209 mutants associated with myopathy and neuropathy relocate chaperones of the CASA-complex to aggresomes

Bespoke Phenotips frontends for associated ERNs and undiagnosed disease programmes

Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability

Guidelines for molecular genetics of rare disorders

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein S...

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial d...

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A ‐Ataxia: A Multicenter Study of 59 Patients

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patient...

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Metadata catalog operational, with initial content

Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case rep...

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Small heat shock proteins in neurodegenerative diseases.

Somatic mutational signatures in polyposis and colorectal cancer

Long-Read Sequencing Emerging in Medical Genetics

Central RD-Connect database serving Solve-RD, including user authentication and authorization

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies.

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants