Adam D. Heaps

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes

Kevin A. Strauss, Vincent J. Carson, Kyle Soltys et al. · Molecular Genetics and Metabolism · 2020 · 153 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +17

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of<i>WDR73</i>

Robert N. Jinks, Erik G. Puffenberger, Emma L. Baple et al. · Brain · 2015 · 67 citations · Full text

Medicine, Neurology, Pediatrics +17

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Kevin A. Strauss, Sander Markx, Benjamin Georgi et al. · Human Molecular Genetics · 2014 · 59 citations · Full text

Life Sciences, Genetics, Psychiatry +17

Genomic diagnostics within a medically underserved population: efficacy and implications

Kevin A. Strauss, Claudia Gonzaga‐Jauregui, Karlla W. Brigatti et al. · Genetics in Medicine · 2017 · 59 citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier

Lauren E. Bowser, Millie Young, Olivia Wenger et al. · Molecular Genetics and Metabolism · 2019 · 55 citations

Life Sciences, Biochemistry, Genetics +11