Publications by authors named "Matthew Ferber"

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Exome Sequencing Enhances Screening for Familial Hypercholesterolemia Within a Multi-Site Healthcare System.
N Jewel Samadder, Mariah Schroeder, Molly M Voss, Fadi Shamoun, Iftikhar Kullo, Matthew J Ferber

Circ Genom Precis Med· December 2025

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MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Maolei Gong, Jiayi Li, Zailong Qin, Matheus Vernet Machado Bressan Wilke, Yijun Liu, Matthew J Ferber

Am J Hum Genet· November 2024

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Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education.
Lorelei A Bandel, Robert A Vierkant, Teresa M Kruisselbrink, Michelle L Bublitz, Tammy A Wilson, Matthew J Ferber

Mayo Clin Proc· November 2024

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Exome Sequencing Identifies Carriers of the Autosomal Dominant Cancer Predisposition Disorders Beyond Current Practice Guideline Recommendations.
N Jewel Samadder, Emily Gay, Vanda Lindpere, Michelle L Bublitz, Lorelei A Bandel, Matthew J Ferber

JCO Precis Oncol· July 2024

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Combining rare and common genetic variants improves population risk stratification for breast cancer.
Alexandre Bolze, Daniel Kiser, Kelly M Schiabor Barrett, Gai Elhanan, Jamie M Schnell Blitstein, Matthew J Ferber

Genet Med Open· February 2024

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Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus.
Nicholas T Streck, Mark J Espy, Matthew J Ferber, Eric W Klee, Raymund R Razonable

J Clin Microbiol· October 2023

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke, Matthew J Ferber

Genet Med· February 2023

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Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Rong Mao, Patti Krautscheid, Rondell P Graham, Arupa Ganguly, Suma Shankar, Matthew Ferber

Genet Med· October 2021

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One 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.
Stephen E Lincoln, Tina Hambuch, Justin M Zook, Sara L Bristow, Kathryn Hatchell, Matthew J Ferber

Genet Med· September 2021

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Michelle E Ernst, Evan H Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Matthew J Ferber

Epilepsia· July 2021

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Impact of integrated translational research on clinical exome sequencing.
Eric W Klee, Margot A Cousin, Filippo Pinto E Vairo, Joel A Morales-Rosado, Erica L Macke, Matthew J Ferber

Genet Med· March 2021

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Design and Reporting Considerations for Genetic Screening Tests.
Jill Hagenkord, Birgit Funke, Emily Qian, Madhuri Hegde, Kevin B Jacobs, Matthew Ferber

J Mol Diagn· May 2020

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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young, Matthew J Ferber

Genet Med· December 2019

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Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Bryce A Seifert, Jennifer L McGlaughon, Sarah A Jackson, Deborah I Ritter, Maegan E Roberts, Matthew J Ferber

Genet Med· July 2019

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RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.
Gavin R Oliver, Patrick R Blackburn, Marissa S Ellingson, Erin Conboy, Filippo Pinto E Vairo, Matthew Ferber

Mol Genet Genomic Med· March 2019

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Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing.
James T Lu, Matthew Ferber, Jill Hagenkord, Elissa Levin, Sarah South

J Mol Diagn· January 2019

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Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Nicole J Boczek, Carrie A Lahner, Thuy-Mi Nguyen, Matthew J Ferber, Linda Hasadsri

Am J Med Genet A· December 2018

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Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing.
Megan A Allyse, David H Robinson, Matthew J Ferber, Richard R Sharp

Mayo Clin Proc· January 2018

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Novel 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.
Charu Kaiwar, Michael T Zimmermann, Matthew J Ferber, Zhiyv Niu, Raul A Urrutia

Cold Spring Harb Mol Case Stud· November 2017

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Two pathways to self-forgiveness: A hedonic path via self-compassion and a eudaimonic path via the reaffirmation of violated values.
Lydia Woodyatt, Michael Wenzel, Matthew Ferber

Br J Soc Psychol· September 2017

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Melissa S DeRycke, Shanaka Gunawardena, Jessica R Balcom, Angela M Pickart, Lindsey A Waltman, Matthew J Ferber

Mol Genet Genomic Med· September 2017

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Novel de novo variant in 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.
Patrick R Blackburn, Sarah S Barnett, Michael T Zimmermann, Margot A Cousin, Charu Kaiwar, Matthew J Ferber

Cold Spring Harb Mol Case Stud· May 2017

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Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine.
Linnea M Baudhuin, Matthew J Ferber

Clin Chem· March 2017

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Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.
Yuan Ji, Jennifer M Skierka, Joseph H Blommel, Brenda E Moore, Douglas L VanCuyk, Matthew J Ferber

J Mol Diagn· May 2016

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Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Konstantinos N Lazaridis, Kimberly A Schahl, Margot A Cousin, Dusica Babovic-Vuksanovic, Douglas L Riegert-Johnson, Matthew J Ferber

Mayo Clin Proc· March 2016

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