Publications by authors named "Chelsea Chambers"

11Publications

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:
Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 01 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6973139PMC
January 2020

A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.

J Child Neurol 2017 Dec;32(14):1123-1124

2 Department of Neurology, University of Virginia, Charlottesville, VA, USA.

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http://dx.doi.org/10.1177/0883073817736702DOI Listing
December 2017

Autosomal recessive inheritance of -related generalized dystonia and myoclonus.

Neurol Genet 2017 Oct 25;3(5):193. Epub 2017 Sep 25.

Department of Neurology (M.J.B., C.C.), and Department of Pathology (E.S.W.), University of Virginia Health System, Charlottesville; and Department of Clinical Genomics and Neurology (R.D.), Mayo Clinic, Phoenix, AZ.

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http://dx.doi.org/10.1212/NXG.0000000000000193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612768PMC
October 2017

Clinical Reasoning: A 13-year-old boy with chronic ataxia and developmental delay.

Neurology 2017 03;88(13):e116-e121

From the Department of Neurology, University of Virginia, Charlottesville.

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http://dx.doi.org/10.1212/WNL.0000000000003768DOI Listing
March 2017

Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.

Pediatr Neurol 2017 Jan 9;66:113-114. Epub 2016 Sep 9.

Department of Neurology, University of Virginia, Charlottesville, Virginia; Department of Pediatrics, University of Virginia, Charlottesville, Virginia. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.08.020DOI Listing
January 2017

Clinical and Molecular Characterization of ALG1-CDG.

Pediatr Neurol Briefs 2016 Feb;30(2):14

Department of Neurology (Division of Pediatric Neurology), University of Virginia, Charlottesville, VA.

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http://dx.doi.org/10.15844/pedneurbriefs-30-2-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821836PMC
February 2016

Diagnostic NGS for Severe Neuromuscular Disorders.

Pediatr Neurol Briefs 2015 Nov;29(11):82

Division of Pediatric Neurology, Department of Neurology, University of Virginia, Charlottesville, VA.

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http://dx.doi.org/10.15844/pedneurbriefs-29-11-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4747264PMC
November 2015

Review of Commercially Available Epilepsy Genetic Panels.

J Genet Couns 2016 Apr 5;25(2):213-7. Epub 2015 Nov 5.

Department of Neurology, University of Virginia, PO Box 800394, Charlottesville, VA, USA.

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http://dx.doi.org/10.1007/s10897-015-9906-9DOI Listing
April 2016

Cognitive and affective outcomes of more severe compared to less severe carbon monoxide poisoning.

Brain Inj 2008 May;22(5):387-95

Psychology Department, Brigham Young University, Provo, Utah, USA.

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http://dx.doi.org/10.1080/02699050802008075DOI Listing
May 2008