The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles
GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
Cafe Variome: General-Purpose Software for Making Genotype–Phenotype Data Discoverable in Restricted or Open Access Contexts
Participant-Driven Matchmaking in the Genomic Era
GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge
Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
Data Sharing in the Undiagnosed Diseases Network
The Genomic Birthday Paradox: How Much Is Enough?
Mitigating False-Positive Associations in Rare Disease Gene Discovery
Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type
GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK
Matching Two Independent Cohorts Validates DPH1 as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies