ERD

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Deployment of PhenoTips custom forms according to the ERNs specifications

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Wnt genes in colonic polyposis predisposition

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Second training for ePAGs delivered

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

All foundational standards selected and implemented across the project

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatab...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

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

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republi...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour wit...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Solving unsolved rare neurological diseases—a Solve-RD viewpoint.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Ini...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphi...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

The Human Phenotype Ontology in 2021

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Presence of Genetic Variants Among Young Men With Severe COVID-19

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystro...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epilept...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate g...

Project: Solve-RD

Updated at: 31-10-2023

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Project acronym Solve-RD

Resources

Selected filters:

Analysis of brain atrophy and local gene expression in genetic frontotemporal dementia

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Deployment of PhenoTips custom forms according to the ERNs specifications

Wnt genes in colonic polyposis predisposition

Periventricular heterotopia in a male child with <scp><i>USP9X</i></scp> missense variant

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis

Second training for ePAGs delivered

The 2020 version of the gene table of neuromuscular disorders (nuclear genome)

Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.

All foundational standards selected and implemented across the project

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatab...

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

Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republi...

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes- a collaborative multicentre endeavour wit...

Solving unsolved rare neurological diseases—a Solve-RD viewpoint.

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Standards of NGS Data Sharing and Analysis in Ataxias: Recommendations by the NGS Working Group of the Ataxia Global Ini...

Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement

SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome...

Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Induced pluripotent stem cell-derived motor neurons of CMT type 2 patients reveal progressive mitochondrial dysfunction

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphi...

The Human Phenotype Ontology in 2021

Presence of Genetic Variants Among Young Men With Severe COVID-19

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystro...

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epilept...

Gastric cancer genetic predisposition and clinical presentations: Established heritable causes and potential candidate g...