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Author Details

Matthew J Ferber
Mayo Clinic
1997
46
23
PMIDPaper TitleJournal TitlePublished Year
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
37750719Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus.J Clin Microbiol2023
33144682Impact of integrated translational research on clinical exome sequencing.Genet Med2021
34041744CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Epilepsia2021
34007000One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.Genet Med2021
34140662Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
32092541Design and Reporting Considerations for Genetic Screening Tests.J Mol Diagn2020
30453057Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.J Mol Diagn2019
31239556CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Genet Med2019
30632316RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.Mol Genet Genomic Med2019
30523343Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.Genet Med2019
29304915Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing.Mayo Clin Proc2018
30345613Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).Am J Med Genet A2018
28944238Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.Mol Genet Genomic Med2017
28487885Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.Cold Spring Harb Mol Case Stud2017
28077442Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine.Clin Chem2017
28963436Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.Cold Spring Harb Mol Case Stud2017
26944241Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.Mayo Clin Proc2016
26947514Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.J Mol Diagn2016
25649062High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report.Hered Cancer Clin Pract2015
26434960Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.Mayo Clin Proc2015
26606281EHR based Genetic Testing Knowledge Base (iGTKB) Development.BMC Med Inform Decis Mak2015
25960255Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing.J Mol Diagn2015
24388019Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.Mayo Clin Proc2014
24943691Genomic medicine and incidental findings: balancing actionability and patient autonomy.Mayo Clin Proc2014
24888332Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.Am J Med Genet A2014
24616301Implementing individualized medicine into the medical practice.Am J Med Genet C Semin Med Genet2014
23159591APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.J Mol Diagn2013
24371183Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic.J Genet2013
23649380Preserving personal autonomy in a genomic testing era.Genet Med2013
23138292Assuring the quality of next-generation sequencing in clinical laboratory practice.Nat Biotechnol2012
21902532Expanding DNA diagnostic panel testing: is more better?Expert Rev Mol Diagn2011
20346064Fulminant Wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation.Am J Transplant2010
20562348Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.Clin Chem2010
17550084Genetic tests physicians should know.Minn Med2007
16644258Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.Mol Genet Metab2006
17148043A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.Ophthalmic Genet2006
15771901The role of viral integration in the development of cervical cancer.Cancer Genet Cytogenet2005
16143124Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients.Gastroenterology2005
16175588Wilson Disease--keeping the bar for diagnosis raised.Hepatology2005
15381365Positioning of cervical carcinoma and Burkitt lymphoma translocation breakpoints with respect to the human papillomavirus integration cluster in FRA8C at 8q24.13.Cancer Genet Cytogenet2004
12802289Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers.Oncogene2003
14562053Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma.Oncogene2003
12112530Transcriptional profiling reveals that several common fragile-site genes are downregulated in ovarian cancer.Genes Chromosomes Cancer2002
9641978Combinatorial selection of a small RNA that induces amplification of IncFII plasmids in Escherichia coli.J Mol Biol1998
9025948Quantitating oligonucleotide affinities for duplex DNA: footprinting vs electrophoretic mobility shift assays.Anal Biochem1997
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Co-authored papers 6
Konstantinos N Lazaridis
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Co-authored papers 6
Eric D Wieben
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Co-authored papers 6
Marissa S Ellingson
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Co-authored papers 6
Linnea M Baudhuin
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Co-authored papers 5
Jennifer B McCormick
Penn State College of Medicine
Co-authored papers 5
Kiley J Johnson
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Co-authored papers 5
Pavel N Pichurin
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Co-authored papers 4
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Michael T Zimmermann
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Genomics England Ltd.
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John L Black
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Lisa G Peterson
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Garrett Jenkinson
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Richard M Weinshilboum
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Jamie K Bruflat
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Tina Hambuch
Invitae Corporation
Co-authored papers 2
Justin M Zook
National Institute of Standards and Technology
Co-authored papers 2
Joseph H Blommel
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Co-authored papers 2
Richard R Sharp
Biomedical Ethics, Mayo Clinic and Foundation
Co-authored papers 2
Alan H Bryce
Mayo Clinic
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Cloann Schultz
Center for Individualized Medicine
Co-authored papers 2
Jennifer M Skierka
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Co-authored papers 2
Birgit Funke
Partners Healthcare Center for Personalized Genetic Medicine
Co-authored papers 2
Pedro J Caraballo
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Release 1.2