Dusica Babovic-Vuksanovic, MD


  • 2559 Citations
  • 29 h-Index
1989 …2019
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Research Output 1989 2019

Genomics as a Scientifically Based Fortune-teller

Babovic-Vuksanovic, D., Jan 1 2019, In : Mayo Clinic Proceedings. 94, 1, p. 7-9 3 p.

Research output: Contribution to journalEditorial


RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Oliver, G. R., Blackburn, P. R., Ellingson, M. S., Conboy, E., Pinto e Vairo, F., Webley, M., Thorland, E. C., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 1 2019, In : Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journalArticle

Open Access
Multiple Hereditary Exostoses
Comparative Genomic Hybridization
Multiplex Polymerase Chain Reaction

Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Polonis, K., Blackburn, P. R., Urrutia, R. A., Lomberk, G. A., Kruisselbrink, T., Cousin, M. A., Boczek, N. J., Hoppman, N. L., Babovic-Vuksanovic, D., Klee, E. W. & Pichurin, P. N., Aug 1 2018, In : Cold Spring Harbor molecular case studies. 4, 4

Research output: Contribution to journalArticle

Intellectual Disability
Sotos Syndrome
1 Citation (Scopus)

De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus

Ryan, C. S., Fine, A. L., Cohen, A. L., Schiltz, B. M., Renaud, D. L., Wirrell, E. C., Patterson, M. C., Boczek, N. J., Liu, R., Babovic-Vuksanovic, D., Chan, D. C. & Payne, E. T., Jan 1 2018, (Accepted/In press) In : Journal of Child Neurology.

Research output: Contribution to journalArticle

Dynamin I
Status Epilepticus

KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants

The DDD Study, Jan 1 2018, (Accepted/In press) In : Genetics in Medicine.

Research output: Contribution to journalArticle

Social Media
Language Development Disorders
Genetic Association Studies