Publications by authors named "Matthew DeFelice"

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Long-Read Sequencing of the VNTR: Genomic Variation, Mutational Landscape, and Its Impact on ADTKD Diagnosis and Progression.
Alena Vrbacká, Anna Přistoupilová, Kendrah O Kidd, Václav Janoušek, Martin Radina, Matthew DeFelice

bioRxiv· September 2025

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A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.
Toni A Boltz, Benjamin B Chu, Calwing Liao, Julia M Sealock, Robert Ye, Matthew DeFelice

bioRxiv· September 2024

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Blended Genome Exome (BGE) as a Cost Efficient Alternative to Deep Whole Genomes or Arrays.
Matthew DeFelice, Jonna L Grimsby, Daniel Howrigan, Kai Yuan, Sinéad B Chapman

bioRxiv· July 2024

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Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak.
Katherine J Siddle, Lydia A Krasilnikova, Gage K Moreno, Stephen F Schaffner, Johanna Vostok, Matthew T DeFelice

Cell· February 2022

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Evidence of transmission from fully vaccinated individuals in a large outbreak of the SARS-CoV-2 Delta variant in Provincetown, Massachusetts.
Katherine J Siddle, Lydia A Krasilnikova, Gage K Moreno, Stephen F Schaffner, Johanna Vostok, Matthew T DeFelice

medRxiv· October 2021

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Sensitive Detection of Minimal Residual Disease in Patients Treated for Early-Stage Breast Cancer.
Heather A Parsons, Justin Rhoades, Sarah C Reed, Gregory Gydush, Priyanka Ram, Matthew DeFelice

Clin Cancer Res· June 2020

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Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
Brendan Blumenstiel, Matthew DeFelice, Ozge Birsoy, Anthony J Bleyer, Stanislav Kmoch

J Mol Diagn· July 2016

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The genomic landscape of pediatric Ewing sarcoma.
Brian D Crompton, Chip Stewart, Amaro Taylor-Weiner, Gabriela Alexe, Kyle C Kurek, Matthew DeFelice

Cancer Discov· November 2014

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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
Andrew Kirby, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Matthew DeFelice

Nat Genet· March 2013

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DGAT1 mutation is linked to a congenital diarrheal disorder.
Joel T Haas, Harland S Winter, Elaine Lim, Andrew Kirby, Brendan Blumenstiel, Matthew DeFelice

J Clin Invest· December 2012

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High-throughput detection of actionable genomic alterations in clinical tumor samples by targeted, massively parallel sequencing.
Nikhil Wagle, Michael F Berger, Matthew J Davis, Brendan Blumenstiel, Matthew Defelice

Cancer Discov· January 2012

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Targeted exon sequencing by in-solution hybrid selection.
Brendan Blumenstiel, Kristian Cibulskis, Sheila Fisher, Matthew DeFelice, Andrew Barry

Curr Protoc Hum Genet· July 2010

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Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Manuel A R Ferreira, Michael C O'Donovan, Yan A Meng, Ian R Jones, Douglas M Ruderfer, Matthew Defelice

Nat Genet· September 2008

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A second generation human haplotype map of over 3.1 million SNPs.

Nature· October 2007

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Genome-wide detection and characterization of positive selection in human populations.
Pardis C Sabeti, Patrick Varilly, Ben Fry, Jason Lohmueller, Elizabeth Hostetter, Matthew Defelice

Nature· October 2007

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Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

Science· June 2007

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The structure of haplotype blocks in the human genome.
Stacey B Gabriel, Stephen F Schaffner, Huy Nguyen, Jamie M Moore, Jessica Roy, Matthew DeFelice

Science· June 2002

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