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Dusica Babovic‐Vuksanovic | doi.page

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Dusica Babovic‐Vuksanovic

Mayo Clinic(US)

Publications by Year

Research Areas

Neurofibromatosis and Schwannoma Cases, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Meningioma and schwannoma management, Neuroblastoma Research and Treatments

Most-Cited Works

→ Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation(2021)713 cited
→ Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas(2013)319 cited
→ SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder(2010)307 cited
→ Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation(2022)254 cited
→ Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development(2020)213 cited
→ NF1 plexiform neurofibroma growth rate by volumetric MRI(2007)195 cited

→ High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation(2015)

189 cited

→ Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV(2001)182 cited

→ Recommendations for imaging tumor response in neurofibromatosis clinical trials(2013)142 cited

→ Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen(2012)137 cited