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Publications by Jennifer E. Posey
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
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
American Journal of Human Genetics
Genetics
Bi-Allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay
American Journal of Human Genetics
Genetics
IRF2BPL Is Associated With Neurological Phenotypes
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes
American Journal of Human Genetics
Genetics
Triploidy Mosaicism (45,x/68,xx) in an Infant Presenting With Failure to Thrive
American Journal of Medical Genetics, Part A
Genetics
Syngnathia and Obstructive Apnea in a Case of Popliteal Pterygium Syndrome
European Journal of Pediatrics
Child Health
Pediatrics
Perinatology
