Multiplex assessment of protein variant abundance by massively parallel sequencing

Kenneth A. Matreyek, Lea M. Starita, Jason J. Stephany, +13

Nature Genetics

Long-read SequencingFunctional GenomicsSequencingNext-generation SequencingGenetics +8

Magnitude and Dynamics of the T-Cell Response to SARS-CoV-2 Infection at Both Individual and Population Levels

Thomas M. Snyder, Rachel M. Gittelman, Mark Klinger, +53

Adaptive Immune SystemImmunologyViral DynamicImmunodominanceClass Ii Data +16

A large-scale database of T-cell receptor beta (TCRβ) sequences and binding associations from natural and synthetic exposure to SARS-CoV-2.

Sean Nolan, Marissa Vignali, Mark Klinger, +24

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Justyna A. Karolak, Marie Vincent, Gail Deutsch, +69

The American Journal of Human Genetics

Developmental BiologyPulmonary PathologyMedicinePathologyBronchial Neoplasm +5

Closing the gap: Systematic integration of multiplexed functional data resolves variants of uncertain significance in BRCA1, TP53, and PTEN

Shawn Fayer, Jennifer N. Dines, Alan F. Rubin, +8

The American Journal of Human Genetics

Functional GenomicsEngineeringSystematic IntegrationUncertain SignificanceComputational Biology +8

Recommendations for the collection and use of multiplexed functional data for clinical variant interpretation

Hannah Gelman, Jennifer N. Dines, Jonathan S. Berg, +9

Genome Medicine

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants

Jennifer N. Dines, Katie Golden‐Grant, Amy Lacroix, +28

Genetics in Medicine

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

Amanda S. Freed, Sarah V. Clowes Candadai, Megan Sikes, +16

The Journal of Pediatrics

Critical Care MedicineDna SequencingSequencingMedicineCritically Ill Children +10

Systematic misclassification of missense variants in BRCA1 and BRCA2 “coldspots”

Jennifer N. Dines, Brian H. Shirts, Thomas P. Slavin, +4

Genetics in Medicine

Expanding clinical phenotype in <i>CACNA1C</i> related disorders: From neonatal onset severe epileptic encephalopathy to late‐onset epilepsy

Xiuhua Bozarth, Jennifer N. Dines, Qian Cong, +6

American Journal of Medical Genetics Part A