Matthew DeFelice
Overview
Explore the profile of Matthew DeFelice including associated specialties, affiliations and a list of published articles.
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14
Citations
8734
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Recent Articles
1.
Boltz T, Chu B, Liao C, Sealock J, Ye R, Majara L, et al.
bioRxiv
. 2024 Sep;
PMID: 39282356
We deployed the Blended Genome Exome (BGE), a DNA library blending approach that generates low pass whole genome (1-4× mean depth) and deep whole exome (30-40× mean depth) data in...
2.
DeFelice M, Grimsby J, Howrigan D, Yuan K, Chapman S, Stevens C, et al.
bioRxiv
. 2024 Apr;
PMID: 38645052
Genomic scientists have long been promised cheaper DNA sequencing, but deep whole genomes are still costly, especially when considered for large cohorts in population-level studies. More affordable options include microarrays...
3.
Parsons H, Rhoades J, Reed S, Gydush G, Ram P, Exman P, et al.
Clin Cancer Res
. 2020 Mar;
26(11):2556-2564.
PMID: 32170028
Purpose: Existing cell-free DNA (cfDNA) methods lack the sensitivity needed for detecting minimal residual disease (MRD) following therapy. We developed a test for tracking hundreds of patient-specific mutations to detect...
4.
Blumenstiel B, DeFelice M, Birsoy O, Bleyer A, Kmoch S, Carter T, et al.
J Mol Diagn
. 2016 May;
18(4):566-71.
PMID: 27157321
Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base...
5.
Crompton B, Stewart C, Taylor-Weiner A, Alexe G, Kurek K, Calicchio M, et al.
Cancer Discov
. 2014 Sep;
4(11):1326-41.
PMID: 25186949
Unlabelled: Pediatric Ewing sarcoma is characterized by the expression of chimeric fusions of EWS and ETS family transcription factors, representing a paradigm for studying cancers driven by transcription factor rearrangements....
6.
Kirby A, Gnirke A, Jaffe D, Baresova V, Pochet N, Blumenstiel B, et al.
Nat Genet
. 2013 Feb;
45(3):299-303.
PMID: 23396133
Although genetic lesions responsible for some mendelian disorders can be rapidly discovered through massively parallel sequencing of whole genomes or exomes, not all diseases readily yield to such efforts. We...
7.
Haas J, Winter H, Lim E, Kirby A, Blumenstiel B, DeFelice M, et al.
J Clin Invest
. 2012 Nov;
122(12):4680-4.
PMID: 23114594
Congenital diarrheal disorders (CDDs) are a collection of rare, heterogeneous enteropathies with early onset and often severe outcomes. Here, we report a family of Ashkenazi Jewish descent, with 2 out...
8.
Wagle N, Berger M, Davis M, Blumenstiel B, DeFelice M, Pochanard P, et al.
Cancer Discov
. 2012 May;
2(1):82-93.
PMID: 22585170
Unlabelled: Knowledge of "actionable" somatic genomic alterations present in each tumor (e.g., point mutations, small insertions/deletions, and copy-number alterations that direct therapeutic options) should facilitate individualized approaches to cancer treatment....
9.
Blumenstiel B, Cibulskis K, Fisher S, DeFelice M, Barry A, Fennell T, et al.
Curr Protoc Hum Genet
. 2010 Jun;
Chapter 18:Unit 18.4.
PMID: 20582916
This unit describes a protocol for the targeted enrichment of exons from randomly sheared genomic DNA libraries using an in-solution hybrid selection approach for sequencing on an Illumina Genome Analyzer...
10.
Ferreira M, ODonovan M, Meng Y, Jones I, Ruderfer D, Jones L, et al.
Nat Genet
. 2008 Aug;
40(9):1056-8.
PMID: 18711365
To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and identified a region of strong association (rs10994336, P = 9.1 x...