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Publications by Joy D. Cogan

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

Pharmacologic Correction of Dominant-Negative GH1 Deficiency Causing Mutations

Clinical and Translational Science
GeneticsMolecular BiologyPharmacologyBiochemistryNeuroscienceMedicineToxicologyPharmaceutics
2011English

Penetrance of Pulmonary Arterial Hypertension Is Modulated by the Expression of normalBMPR2allele

Human Mutation
Genetics
2009English

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