Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder

Congenital myasthenic syndrome caused by novel COL13A1 mutations

(2019) Marina Dusl et al.   JOURNAL OF NEUROLOGY

RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases

(2018) Hanns Lochmüller et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The 2019 version of the gene table of neuromuscular disorders (nuclear genome)

(2018)   NEUROMUSCULAR DISORDERS

Classification, Ontology, and Precision Medicine

(2018) Melissa A. Haendel et al.   NEW ENGLAND JOURNAL OF MEDICINE

OMIM.org: leveraging knowledge across phenotype–gene relationships

(2018) Joanna S Amberger et al.   NUCLEIC ACIDS RESEARCH

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

(2018) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

(2018) Rachel Thompson et al.   Orphanet Journal of Rare Diseases

Evaluation of exome filtering techniques for the analysis of clinically relevant genes

(2017) Kristin D. Kernohan et al.   HUMAN MUTATION

Settling the score: variant prioritization and Mendelian disease

(2017) Karen Eilbeck et al.   NATURE REVIEWS GENETICS

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting

(2017) Reuben J. Pengelly et al.   Scientific Reports

From Wet-Lab to Variations: Concordance and Speed of Bioinformatics Pipelines for Whole Genome and Whole Exome Sequencing

(2016) Steve Laurie et al.   HUMAN MUTATION

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The Implicitome: A Resource for Rationalizing Gene-Disease Associations

(2016) Kristina M. Hettne et al.   PLoS One

Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain

(2015) Clare V. Logan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

(2015) William P. Bone et al.   GENETICS IN MEDICINE

The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles

(2015) Orion J. Buske et al.   HUMAN MUTATION

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

(2015) Orion J. Buske et al.   HUMAN MUTATION

Next-generation diagnostics and disease-gene discovery with the Exomiser

(2015) Damian Smedley et al.   Nature Protocols

The 2016 version of the gene table of monogenic neuromuscular disorders (nuclear genome)

(2015) Jean-Claude Kaplan et al.   NEUROMUSCULAR DISORDERS

Disease gene identification strategies for exome sequencing

(2012) Christian Gilissen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS