Paper Details

Paper Title

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

Paper Journal Title

Hum Mutat

Paper Citation Count

Paper Publication Year

2019

Bio Mention

Exomiser, HPO, Human, congenital myasthenic syndromes, disease genes, gene-list, neuromuscular disorder, patients

Mesh Descriptor

Author Name	Affiliation
Rachel Thompson	Institute of Genetic Medicine, Newcastle University, International Centre for Life
Sergi Beltran	Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST)
Sergi Beltran	Universitat Pompeu Fabra-UPF
Peter A C 't Hoen	Radboud Institute for Molecular Life Sciences, Radboud University Medical Center Nijmegen
Peter A C 't Hoen	Radboud Institute for Molecular Life Sciences, Radboud University Medical Center Nijmegen
Hanns Lochm??ller	Center for Genomic Regulation, Barcelona Institute of Science and Technology (BIST)
Hanns Lochm??ller	Children's Hospital of Eastern Ontario Research Institute, University of Ottawa
Hanns Lochm??ller	The Ottawa Hospital
Hanns Lochm??ller	Medical Center-University of Freiburg

Dataset	Description	Source Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link
Human Phenotype Ontology	Standardized vocabulary of phenotypic abnormalities in human disease	Link

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