Renee Temme

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Catherine A. Brownstein, Alan H. Beggs, Nils Homer et al. · Genome biology · 2014 · 432 citations · Full text

WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

Shawna M. Pyott, Thao Tran, Dru F. Leistritz et al. · The American Journal of Human Genetics · 2013 · 205 citations · Full text

Bone Disease, Moderately Severe, Developmental Biology +9

Diagnostic Exome Sequencing Identifies Two Novel <i>IQSEC2</i> Mutations Associated with X‐Linked Intellectual Disability with Seizures: Implications for Genetic Counseling and Clinical Diagnosis

Stephanie Gandomi, Kelly Gonzalez, M. Parra et al. · Journal of Genetic Counseling · 2013 · 46 citations · Full text

Neurogenomics, Neurological Disorder, Genetics +18

Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses

Nancy J. Mendelsohn, Timothy C. Wood, Rebecca Olson et al. · JIMD Reports · 2013 · 26 citations · Full text

The Long and Short of Genetic Counseling Summary Letters: A Case–control Study

Jennifer Roggenbuck, Renee Temme, Jennifer L. Baker et al. · Journal of Genetic Counseling · 2014 · 21 citations