Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Daniel B. Goodman

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

Molecular Biology

English

Lack of Effect of Rezafungin on QT/QTc Interval in Healthy Subjects

Clinical Pharmacology in Drug Development

Pharmaceutical Science

English

Related publications

Exon Recognition in Vertebrate Splicing

Journal of Biological Chemistry

Molecular Biology

English

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

Internal Medicine

English

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

Nature Genetics

English

Rare Copy Number Variants Are an Important Cause of Epileptic Encephalopathies

Annals of Neurology

English

Improved Detection of Rare Genetic Variants for Diseases

Multidisciplinary

English

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

Molecular Biology

English

The Quest for Rare Variants: Pooled Multiplexed Next Generation Sequencing in Plants

Frontiers in Plant Science

English

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

Journal of Immunology

English

Multiple Splicing Defects in an Intronic False Exon

Molecular and Cellular Biology

Molecular Biology

English