Article-Journal

Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Marisa W. Friederich

• Sep 1, 2020 • 1 min read

Abnormal expression of GABAA receptor subunits and hypomotility upon loss of gabra1 in zebrafish

Nayeli G. Reyes-Nava

• Apr 1, 2020 • 1 min read

Pyridoxine-dependent epilepsy is more than just epilepsy

Curtis R. Coughlin

• Mar 1, 2020 • 1 min read

Developing interactions with industry in rare diseases: lessons learned and continuing challenges

Susan A. Berry

• Jan 1, 2020 • 1 min read

Genetic Testing: Consent and Result Disclosure for Primary Care Providers

W. Andrew Faucett

• Nov 1, 2019 • 1 min read

22q11 Deletion Syndrome

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Wolfram Demaerel

• Sep 1, 2019 • 1 min read

6-Hydroxy-Pipecolate

Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening

Michael F. Wempe

• May 1, 2019 • 1 min read

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype

Nicholas v. Stence

• May 1, 2019 • 1 min read

2-Aminoadipic Acid

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Curtis R. Coughlin

• Mar 1, 2019 • 1 min read

Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background

Kelly E. Ormond

• Mar 1, 2019 • 1 min read