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Publications by Bret L. Bostwick

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

In Vivo 6-Thioguanine-Resistant T Cells From Melanoma Patients Have Public TCR and Share TCR Beta Amino Acid Sequences With Melanoma-Reactive T Cells

Journal of Immunological Methods
AllergyImmunology
2011English

Chronic Oral L-Carnitine Supplementation Drives Marked Plasma TMAO Elevations in Patients With Organic Acidemias Despite Dietary Meat Restrictions

JIMD Reports
Internal MedicineGeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2016English

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