Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng, +29

The American Journal of Human Genetics

Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, +32

The American Journal of Human Genetics

Acmg/amp FrameworkSystems BiologyFunctional GenomicsEngineeringMedicine +7

ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, +5

The American Journal of Human Genetics

Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

Alicia B. Byrne, Peer Arts, Thuong Ha, +198

Nature Medicine

Pathogenic variants in <i>MDFIC</i> cause recessive central conducting lymphatic anomaly with lymphedema

Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton, +29

Science Translational Medicine

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

Vikas Pejaver, Alicia B. Byrne, Bing Feng, +10

Genetic EpidemiologyPathologyComputational ToolPp3/bp4 CriteriaDisease Classification +23

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

Timothy Bergquist, Sarah L. Stenton, Emily A.W. Nadeau, +10

Genetics in Medicine

Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

Alicia B. Byrne, Peer Arts, Steven W. Polyak, +11

npj Genomic Medicine

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Andrew Kodani, Connor Kenny, Abbe Lai, +20

Neuron

Cellular NeurobiologyMolecular NeuroscienceDevelopmental BiologySynaptic SignalingNeuroanatomy +9

<i>matchbox</i>: An open-source tool for patient matching via the Matchmaker Exchange

Harindra Arachchi, Monica H. Wojcik, Benjamin Weisburd, +10

Human Mutation

EngineeringPathologyPatient Tracking SystemBioinformatics DatabaseInformation Retrieval +20