Publications by authors named "John Wolff"

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A Novel Web App for Dietary Weight Management: Development, Implementation, and Usability Study.
Ashleigh Oliveira, John Wolff, Nouf Alfouzan, Jin Yu, Asma Yahya

JMIR Form Res· November 2024

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Reproduction of melting behavior for vitrified hillforts based on amphibolite, granite, and basalt lithologies.
John S McCloy, José Marcial, Jack S Clarke, Mostafa Ahmadzadeh, John A Wolff

Sci Rep· January 2021

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A Semi-Automated Tuberculosis Testing Workflow Reduces Manual Hazardous Sample Handling and Hands-On Time: A Proof-of-Concept Study.
Kevin W P Miller, Neil Grossman, Peter Haviernik, John Wolff, Chih-Lung Fu

SLAS Technol· June 2020

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An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Dong-Hui Chen, Maxwell Ma, Mena Scavina, Elizabeth Blue, John Wolff

Muscle Nerve· May 2018

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Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.
Beate Peter, Ellen M Wijsman, Alejandro Q Nato, , Mark M Matsushita, John Wolff

PLoS One· February 2017

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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Dong-Hui Chen, Jennifer E Below, Akiko Shimamura, Sioban B Keel, Mark Matsushita, John Wolff

Am J Hum Genet· June 2016

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Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects.
Dong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, Heather C Mefford, Marie Davis, John Wolff

Hum Mutat· December 2013

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Evaluation of Chlamydia trachomatis and Neisseria gonorrhoeae detection in urine, endocervical, and vaginal specimens by a multiplexed isothermal thermophilic helicase-dependent amplification (tHDA) assay.
Dominic O'Neil, Victoria Doseeva, Thomas Rothmann, John Wolff, Irina Nazarenko

J Clin Microbiol· December 2011

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Multiplex isothermal helicase-dependent amplification assay for detection of Chlamydia trachomatis and Neisseria gonorrhoeae.
Victoria Doseeva, Thomas Forbes, John Wolff, Yuri Khripin, Dominic O'Neil

Diagn Microbiol Infect Dis· December 2011

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A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations.
Dong-Hui Chen, Wendy H Raskind, William W Parson, Joshua A Sonnen, Tiffany Vu, John Wolff

J Neurol Sci· September 2010

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A novel X-linked four-repeat tauopathy with Parkinsonism and spasticity.
Parvoneh Poorkaj, Wendy H Raskind, James B Leverenz, Mark Matsushita, Cyrus P Zabetian, John Wolff

Mov Disord· July 2010

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Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21.
Wendy H Raskind, Mark Matsushita, Beate Peter, Jeffrey Biberston, John Wolff

Am J Med Genet B Neuropsychiatr Genet· June 2009

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Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds.
Dong-Hui Chen, Mark Matsushita, Shirley Rainier, Brandon Meaney, Lisa Tisch, John Wolff

Arch Neurol· April 2005

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Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia.
Dong-Hui Chen, Zoran Brkanac, Christophe L M J Verlinde, Xiao-Jian Tan, Laura Bylenok, John Wolff

Am J Hum Genet· April 2003

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A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter.
Zoran Brkanac, Laura Bylenok, Magali Fernandez, Mark Matsushita, Hillary Lipe, John Wolff

Arch Neurol· August 2002

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Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32.
Zoran Brkanac, Magali Fernandez, Mark Matsushita, Hilary Lipe, John Wolff

Am J Med Genet· May 2002

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