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

Marina T. DiStefano, Scott Goehringer, Lawrence Babb, +43

Genetics in Medicine

Bioinformatics DatabaseGlobal EffortGeneticsComputational GenomicsGene Curation Coalition +7

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, +68

Genetics in Medicine

Genome-wide Association StudyGenetic AnalysisNext-generation SequencingGeneticsGenomic Testing +4

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Erica D. Smith, Kelly Radtke, Mari Rossi, +9

Human Mutation

Exome SequencingGenetic EpidemiologyDiagnosisPathologyDiagnostic Exome Sequencing +17

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Kelly D. Farwell Hagman, Deepali N. Shinde, Cameron Mroske, +16

Genetics in Medicine

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin, +94

The American Journal of Human Genetics

Neurodevelopmental DisordersDifferent Neurodevelopmental DisordersNeurodegenerative DiseasesDevelopmental BiologyMendelian Disorder +13

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Margot R.F. Reijnders, Kerry A. Miller, Mohsan Alvi, +64

The American Journal of Human Genetics

Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions

Zöe Powis, Meghan C. Towne, Kelly D. Farwell Hagman, +9

Clinical Genetics

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, +59

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

Marina T. DiStefano, Scott Goehringer, Lawrence Babb, +43