Weksberg, Rosanna A.

Top Publications

Top Publications Authored or Co-Authored by "Weksberg, Rosanna A."

• Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

  American Journal of Medical Genetics, Volume 84, No. 5, Year 1999, Citations 407
• De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

  American Journal of Human Genetics, Volume 107, No. 2, Year 2020, Citations 92
• An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

  American Journal of Human Genetics, Volume 109, No. 10, Year 2022, Citations 62
• A mutation in the proα2(I) Gene (COLIA2) for type I procollagen in Ehlers-Danlos syndrome type VII: Evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype

  American Journal of Human Genetics, Volume 48, No. 2, Year 1991, Citations 52
• A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature

  American Journal of Medical Genetics, Part A, Volume 191, No. 5, Year 2023, Citations 38