Jennifer Roggenbuck

Jennifer Roggenbuck

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Jennifer Roggenbuck

Jennifer Roggenbuck

Publications by authors named "Jennifer Roggenbuck"

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14Publications

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Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.

Amyotroph Lateral Scler Frontotemporal Degener 2019 May 1;20(3-4):216-221. Epub 2019 Apr 1.

a Division of Human Genetics , The Ohio State University Medical Center , Columbus , OH , USA.

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http://dx.doi.org/10.1080/21678421.2019.1582670DOI Listing
May 2019

Variable reporting of and a high rate of uncertain results in ALS genetic testing.

Neurol Genet 2019 Feb 7;5(1):e301. Epub 2019 Jan 7.

Department of Neurology (H.K.), Indiana University Medical Center, Indianapolis; Department of Neurology (S.A.G.), University of Michigan Medical Center, Ann Arbor; Department of Neurology (A.Q., S.J.K., J.R.) and Department of Biological Chemistry & Pharmacy (S.J.K.), The Ohio State University Wexner Medical Center, Columbus.

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http://dx.doi.org/10.1212/NXG.0000000000000301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340336PMC
February 2019

Patients with sporadic and familial amyotrophic lateral sclerosis found value in genetic testing.

Mol Genet Genomic Med 2018 03 20;6(2):224-229. Epub 2017 Dec 20.

Division of Human Genetics, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.1002/mgg3.360DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5902388PMC
March 2018

Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

Muscle Nerve 2017 08 20;56(2):341-345. Epub 2017 Feb 20.

Department of Neurology, Division of Neuromuscular Medicine, The Ohio State University Wexner Medical Center, 395 West 12th Avenue, Columbus, Ohio, 43210, USA.

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http://dx.doi.org/10.1002/mus.25491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440221PMC
August 2017

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.

J Genet Couns 2017 Jun 20;26(3):604-611. Epub 2016 Oct 20.

Division of Human Genetics, Department of Internal Medicine, The Ohio State University, Columbus, OH, USA.

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http://dx.doi.org/10.1007/s10897-016-0034-yDOI Listing
June 2017

Genetic testing and genetic counseling for amyotrophic lateral sclerosis: an update for clinicians.

Genet Med 2017 03 18;19(3):267-274. Epub 2016 Aug 18.

The Ohio State University Wexner Medical Center, Columbus, Ohio, USA.

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http://www.nature.com/articles/gim2016107
Publisher Site
http://dx.doi.org/10.1038/gim.2016.107DOI Listing
March 2017

The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and management.

Appl Clin Genet 2015 19;8:235-43. Epub 2015 Oct 19.

Department of Neurology, Division of Neuromuscular Disorders, The Ohio State University Wexner Medical Center, Columbus, OH, USA ; Department of Physical Medicine and Rehabilitation, The Ohio State University Wexner Medical Center, Columbus, OH, USA ; Department of Neuroscience, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

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http://dx.doi.org/10.2147/TACG.S69969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4621202PMC
November 2015

CF versus CRMS: diagnostic challenges in cystic fibrosis.

Minn Med 2012 Oct;95(10):42-4

Children's Hospitals and Clinics of Minnesota, USA.

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October 2012

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

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http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Duplication of the distal long arm of chromosome 15: report of three new patients and review of the literature.

Am J Med Genet A 2004 May;126A(4):398-402

Division of Genetics, Children's Hospitals and Clinics, Minneapolis, Minnesota 55404, USA.

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http://dx.doi.org/10.1002/ajmg.a.20617DOI Listing
May 2004

A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing.

J Mol Diagn 2002 May;4(2):114-7

Clinical Cancer Genetics and Human Cancer Genetics Programs, The Ohio State University, 420 W. 12th Avenue, Columbus, OH 43210, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S152515781060690
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1906990PMC
http://dx.doi.org/10.1016/S1525-1578(10)60690-3DOI Listing
May 2002