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Publications by Christina P. Burghard

A Multiplexed Assay for Exon Recognition Reveals That an Unappreciated Fraction of Rare Genetic Variants Cause Large-Effect Splicing Disruptions

Molecular Cell
Cell BiologyMolecular Biology
2019English

Related publications

Exon Recognition in Vertebrate Splicing

Journal of Biological Chemistry
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1995English

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

Diabetes
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2020English

S-Cap Extends Pathogenicity Prediction to Genetic Variants That Affect RNA Splicing

Nature Genetics
Genetics
2019English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology
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2011English

Improved Detection of Rare Genetic Variants for Diseases

PLoS ONE
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2010English

406 an in Vitro Splicing Assay Reveals the Pathogenicity of Intronic Variants in ABCC6, the Gene at Fault in Pseudoxanthoma Elasticum

Journal of Investigative Dermatology
BiochemistryDermatologyCell BiologyMolecular Biology
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The Quest for Rare Variants: Pooled Multiplexed Next Generation Sequencing in Plants

Frontiers in Plant Science
Plant Science
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The Exon a (C77G) Mutation Is a Common Cause of Abnormal CD45 Splicing in Humans

Journal of Immunology
AllergyImmunology
2001English

Multiple Splicing Defects in an Intronic False Exon

Molecular and Cellular Biology
Cell BiologyMolecular Biology
2000English

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