Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Allyn McConkie-Rosell

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

English

IRF2BPL Is Associated With Neurological Phenotypes

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

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

American Journal of Human Genetics

English

the Importance of Managing the Patient and Not the Gene: Expanded Phenotype of GLE1 -Associated Arthrogryposis

Cold Spring Harbor molecular case studies

Molecular Medicine

English

Characteristics of Undiagnosed Diseases Network Applicants: Implications for Referring Providers

BMC Health Services Research

English