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Publications by Lisa T. Emrick

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome With Intellectual Disability and Developmental Delay

American Journal of Human Genetics
Genetics
2019English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics
Genetics
2018English

De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

American Journal of Human Genetics
Genetics
2019English

Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics
Genetics
2019English

Glucose Metabolism Derangements in Adults With the MELAS M.3243A>G Mutation

Mitochondrion
Molecular MedicineCell BiologyMolecular Biology
2014English

De Novo EIF2AK1 and EIF2AK2 Variants Are Associated With Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

2019English

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