Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases.
PMID:35256540
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
PMID:35220969
Intellectual disability genomics: current state, pitfalls and future challenges.
PMID:34930158
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
PMID:33924139
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease.
PMID:33521598
The Human Phenotype Ontology in 2021.
PMID:33264411
Mitochondria under the spotlight: On the implications of mitochondrial dysfunction and its connectivity to neuropsychiatric disorders.
PMID:33033576
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems.
PMID:32972444
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.
PMID:32946487
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network.
PMID:32928283
The undiagnosed diseases program: Approach to diagnosis.
PMID:32477883
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments.
PMID:32259080
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
PMID:31479590
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
PMID:31417602
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.
PMID:31227780
VarWatch-A stand-alone software tool for variant matching.
PMID:31022234
Uncovering Missing Heritability in Rare Diseases.
PMID:30987386
Federated discovery and sharing of genomic data using Beacons.
PMID:30833764
Diagnosing rare diseases after the exome.
PMID:30559314
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
PMID:30304647
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
PMID:30248891
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases.
PMID:30173820
SpainUDP: The Spanish Undiagnosed Rare Diseases Program.
PMID:30110963
Registered access: authorizing data access.
PMID:30069064
[From symptom to syndrome using modern software support].
PMID:29995249
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
PMID:29961570
Paediatric genomics: diagnosing rare disease in children.
PMID:29398702
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability.
PMID:29258477
Matchmaker Exchange.
PMID:29044468
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
PMID:28874452
"Matching" consent to purpose: The example of the Matchmaker Exchange.
PMID:28699299
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
PMID:28686853
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
PMID:28603714
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
PMID:28475856
Semantic prioritization of novel causative genomic variants.
PMID:28414800
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease.
PMID:28157539
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
PMID:28132690
Patient Similarity: Emerging Concepts in Systems and Precision Medicine.
PMID:27932992
The Human Phenotype Ontology in 2017.
PMID:27899602
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases.
PMID:27782107
Registered access: a 'Triple-A' approach.
PMID:27677416
Explorations to improve the completeness of exome sequencing.
PMID:27568008
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges.
PMID:27504451
State of rare disease management in Southeast Asia.
PMID:27484654
A Clinician's perspective on clinical exome sequencing.
PMID:27126233
Novel bioinformatic developments for exome sequencing.
PMID:27075447
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.
PMID:26656649
Human genotype-phenotype databases: aims, challenges and opportunities.
PMID:26553330
The Matchmaker Exchange: a platform for rare disease gene discovery.
PMID:26295439
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles.
PMID:26255989