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Publications by Kevin S. Smith

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

Desktop Transcriptome Sequencing From Archival Tissue to Identify Clinically Relevant Translocations

American Journal of Surgical Pathology
AnatomyForensic MedicinePathologySurgery
2013English

Glycogen Synthase Kinase 3 in MLL Leukaemia Maintenance and Targeted Therapy

Nature
Multidisciplinary
2008English

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