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Publications by Eric W. Klee
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Clinical Spectrum of STX1B-related Epileptic Disorders
Neurology
Neurology
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls
Pediatrics
Child Health
Pediatrics
Perinatology
Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research
Frontiers in Genetics
Genetics
Molecular Medicine
A Tailored Approach to Fusion Transcript Identification Increases Diagnosis of Rare Inherited Disease
PLoS ONE
Multidisciplinary
Antiangiogenic Effects and Therapeutic Targets ofAzadirachta indicaLeaf Extract in Endothelial Cells
Evidence-based Complementary and Alternative Medicine
Alternative Medicine
Complementary
Whole Exome Sequencing Implicates an INO80D Mutation in a Syndrome of Aortic Hypoplasia, Premature Atherosclerosis, and Arterial Stiffness
Circulation: Cardiovascular Genetics
Developmental Delay, Coarse Facial Features, and Epilepsy in a Patient With EXT2 Gene Variants
Clinical Case Reports
Medicine
