Curtis R. Coughlin

Application of a framework to guide genetic testing communication across clinical indications

Miranda L. G. Hallquist

• Apr 1, 2021 • 1 min read

Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy

• Feb 1, 2021 • 1 min read

Development and application of an ethical framework for pediatric metabolic and bariatric surgery evaluation

Jaime M. Moore

• Feb 1, 2021 • 1 min read

Aldehyde Dehydrogenase

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

Curtis R. Coughlin

• Jan 1, 2021 • 1 min read

Amino Acid Metabolism

Inconsistencies in the Nutrition Management of Glutaric Aciduria Type 1: An International Survey

Laurie Bernstein

• Oct 1, 2020 • 1 min read

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