Publications by authors named "Christin D Collins"

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Response to Biesecker et al.
Joseph J Shen, Saskia B Wortmann, Leo A J Kluijtmans, Christin D Collins, Robin van der Lee

Genet Med· April 2021

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The role of clinical response to treatment in determining pathogenicity of genomic variants.
Joseph J Shen, Saskia B Wortmann, Lonneke de Boer, Leo A J Kluijtmans, Marleen C D G Huigen, Christin D Collins

Genet Med· March 2021

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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.
Erin R Riggs, Tristan Nelson, Andrew Merz, Todd Ackley, Brian Bunke, Christin D Collins, Morag N Collinson

Hum Mutat· November 2018

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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das

Hum Mutat· November 2018

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Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features.
Rossana L Sanchez, Jiong Yan, Sarah Richards, Gary Mierau, Eric P Wartchow, Christin D Collins

Am J Ophthalmol Case Rep· December 2016

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Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis.
Sek Won Kong, Mustafa Sahin, Christin D Collins, Mary H Wertz, Malcolm G Campbell

Mol Autism· February 2014

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MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
Davide Tonduti, Adeline Vanderver, Angela Berardinelli, Johanna L Schmidt, Christin D Collins

J Child Neurol· June 2013

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Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders.
Sek Won Kong, Christin D Collins, Yuko Shimizu-Motohashi, Ingrid A Holm, Malcolm G Campbell

PLoS One· June 2013

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Molecular pathways altered by insulin b9-23 immunization.
Sarah E Eckenrode, Qing-Guo Ruan, Christin D Collins, Ping Yang, Richard A McIndoe

Ann N Y Acad Sci· December 2004

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Gene expression associated with interferon alfa antiviral activity in an HCV replicon cell line.
Haizhen Zhu, Hongshan Zhao, Christin D Collins, Sarah E Eckenrode, Qingguo Run

Hepatology· May 2003

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