Publications by authors named "Matt Velinder"

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RNA sequencing provides functional insights and diagnostic resolution in previously unsolved rare disease cases.
Robert G Lewis, John M O'Shea, Lucilla Pizzo, Ting Wen, Makenzie L Fulmer, Matt Velinder

BMC Med Genomics· November 2025

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-Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine: Putative Role of .
Jordan Langford, Lana Vukadin, John C Carey, Lorenzo D Botto, Matt Velinder

Neurol Genet· June 2023

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Author Correction: Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges

Sci Rep· April 2022

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: A Collaborative Diagnostic Workflow to Enable Team-Based Precision Genomics.
Alistair Ward, Matt Velinder, Tonya Di Sera, Aditya Ekawade, Sabrina Malone Jenkins

J Pers Med· January 2022

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Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges

Sci Rep· October 2021

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Effective variant filtering and expected candidate variant yield in studies of rare human disease.
Brent S Pedersen, Joe M Brown, Harriet Dashnow, Amelia D Wallace, Matt Velinder

NPJ Genom Med· July 2021

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B Krier, Kimberly LeBlanc

Genet Med· June 2021

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ped_draw: pedigree drawing with ease.
Matt Velinder, Dillon Lee, Gabor Marth

BMC Bioinformatics· December 2020

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gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
Tonya Di Sera, Matt Velinder, Alistair Ward, Yi Qiao, Stephanie Georges

medRxiv· November 2020

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Genepanel.iobio - an easy to use web tool for generating disease- and phenotype-associated gene lists.
Aditya Ekawade, Matt Velinder, Alistair Ward, Tonya DiSera, Chase Miller

BMC Med Genomics· December 2019

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Genome sequencing reveals a deep intronic splicing mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
Whitney L Wooderchak-Donahue, Jamie McDonald, Andrew Farrell, Gulsen Akay, Matt Velinder

J Med Genet· December 2018

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Rapid clinical diagnostic variant investigation of genomic patient sequencing data with web tools.
Alistair Ward, Mary A Karren, Tonya Di Sera, Chase Miller, Matt Velinder

J Clin Transl Sci· December 2017

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