Gelb, Bruce D.

Top Publications

Top Publications Authored or Co-Authored by "Gelb, Bruce D."

• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

  Brain, Volume 143, No. 8, Year 2020, Citations 100
• Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey Syndrome

  Nature Genetics, Volume 32, No. 3, Year 2002, Citations 62
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 34
• SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

  American Journal of Human Genetics, Volume 108, No. 11, Year 2021, Citations 33