Publications by authors named "Chelsea Chambers"

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Genetic Patterns of Selected Muscular Dystrophies in the Muscular Dystrophy Surveillance, Tracking, and Research Network.
Peter B Kang, Magali Jorand-Fletcher, Wanfang Zhang, Suzanne W McDermott, Reba Berry, Chelsea Chambers

Neurol Genet· December 2023

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Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders.
Chelsea Chambers, Lauren Lichten, Ashley Crook, Wendy R Uhlmann, Laynie Dratch

Neurol Clin Pract· October 2023

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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Amy L Schneider, Candace T Myers, Alison M Muir, Sophie Calvert, Alice Basinger, Chelsea Chambers

Epilepsia· January 2021

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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Chelsea Chambers

Hum Mutat· January 2020

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HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Chelsea Chambers

Brain· November 2018

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Phase determination using chromosomal microarray and fluorescence in situ hybridization in a patient with early onset Parkinson disease and two deletions in PRKN.
Eli S Williams, Matthew J Barrett, Radhika Dhamija, Lisa Toran, Chelsea Chambers

Mol Genet Genomic Med· May 2018

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A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton

J Child Neurol· December 2017

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Autosomal recessive inheritance of -related generalized dystonia and myoclonus.
Matthew J Barrett, Eli S Williams, Chelsea Chambers, Radhika Dhamija

Neurol Genet· October 2017

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Clinical Reasoning: A 13-year-old boy with chronic ataxia and developmental delay.
Amal Abu Libdeh, Lauren Talman, Chelsea Chambers, Radhika Dhamija

Neurology· March 2017

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Axenfeld-Rieger Syndrome and Leukoencephalopathy Caused by a Mutation in FOXC1.
Manish Kumar, Chelsea Chambers, Radhika Dhamija

Pediatr Neurol· January 2017

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Review of Commercially Available Epilepsy Genetic Panels.
Chelsea Chambers, Laura A Jansen, Radhika Dhamija

J Genet Couns· April 2016

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Clinical and Molecular Characterization of ALG1-CDG.
Radhika Dhamija, Chelsea Chambers

Pediatr Neurol Briefs· February 2016

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Diagnostic NGS for Severe Neuromuscular Disorders.
Radhika Dhamija, Chelsea Chambers

Pediatr Neurol Briefs· November 2015

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Cognitive and affective outcomes of more severe compared to less severe carbon monoxide poisoning.
Chelsea A Chambers, Ramona O Hopkins, Lindell K Weaver, Colin Key

Brain Inj· May 2008

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