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Affiliations

Publications (34)

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Insights into genetics, human biology and disease gleaned from family based genomic studies.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education.

Next-generation sequencing and the evolution of data sharing.

Orthopaedic Manifestations of Inborn Errors of Metabolism.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

Exploring Genes and Phenotypes Within Chromosomal Regions Using OMIM's GeneScout.

Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases.

Orthopaedic Problems in 35 Patients With Organic Acid Disorders.

Viewing Victor McKusick's legacy through the lens of his bibliography.

The impact of GeneMatcher on international data sharing and collaboration.

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post-mortem.

Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.

The Human Phenotype Ontology in 2024: phenotypes around the world.

Implementation of a dyadic nomenclature for monogenic diseases.

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.

Pathogenic Variants in NUP214 Cause "Plugged" Nuclear Pore Channels and Acute Febrile Encephalopathy.

OMIM.org: leveraging knowledge across phenotype-gene relationships.

Online Mendelian Inheritance in Man (OMIM®): Victor McKusick's magnum opus.

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report.

Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

The utility of exome sequencing for fetal pleural effusions.

Three decades of the Human Genome Organization.

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

Centers for Mendelian Genomics: A decade of facilitating gene discovery.

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking.

Variant-level matching for diagnosis and discovery: Challenges and opportunities.

Réseau de co-auteurs