Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Peter R. Baker, Marisa W. Friederich, Michael A. Swanson, +26

Brain

GeneticsPathologyMolecular GeneticsDisease Gene IdentificationInsulin Signaling +16

Folinic acid–responsive seizures are identical to pyridoxine‐dependent epilepsy

Renata C. Gallagher, Johan L.K. Van Hove, Gunter Scharer, +9

Annals of Neurology

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, +15

The American Journal of Human Genetics

Systems BiologyGenetic DisorderMedicineGeneticsPathogenesis +4

Genomics in Clinical Practice: Lessons from the Front Lines

Howard J. Jacob, Kelly Abrams, David Bick, +24

Science Translational Medicine

EngineeringGeneticsGenomicsHigh Throughput SequencingClinical Genetics +17

Prediction of long‐term outcome in glycine encephalopathy: a clinical survey

Julia B. Hennermann, J L Berger, Ulrike Grieben, +2

Journal of Inherited Metabolic Disease

Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

Michael A. Swanson, Curtis R. Coughlin, Gunter Scharer, +12

Annals of Neurology

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Curtis R. Coughlin, Michael A. Swanson, Kathryn E. Kronquist, +17

Genetics in Medicine

Metabolic SyndromeMetabolic DisorderGenetic DisorderGeneticsDiabetes +6

The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in <i>ALDH7A1</i>

Gunter Scharer, Chad Brocker, Vasilis Vasiliou, +4

Journal of Inherited Metabolic Disease

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, <i>CARS2,</i> lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, +11

Journal of Medical Genetics

BAG3 myofibrillar myopathy presenting with cardiomyopathy

Chamindra G. Konersman, Brett J. Bordini, Gunter Scharer, +7

Neuromuscular Disorders

Mitochondrial MyopathyCardiomyopathyHeart FailureBag3 Myofibrillar MyopathyPathology +3