Dusica Babovic-Vuksanovic, MD

Professor

  • 2444 Citations
  • 29 h-Index
1989 …2018
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Research Output 1989 2018

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

Methylation
Growth
Genes
Intellectual Disability
Sotos Syndrome

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
Dystonia
Status Epilepticus
Exome
Genes

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

Genetic Association Studies
Social Media
Language Development Disorders
Microcephaly
Penetrance
1 Citations

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders

Mills, J. R., Moyer, A. M., Kipp, B. R., Poplawski, A. B., Messiaen, L. M. & Babovic-Vuksanovic, D., Jan 1 2018, In : Clinical Genetics. 93, 1, p. 187-190 4 p.

Research output: Contribution to journalArticle

Mosaicism
Acoustic Neuroma
Meningioma
Mutation
Headache

When Biochemical Phenotype Predicts Genotype: Pheochromocytoma and Paraganglioma

Yan, Q., Bancos, I., Gruber, L. M., Bancos, C., McKenzie, T. J., Babovic-Vuksanovic, D. & Young, W. F., May 1 2018, In : American Journal of Medicine. 131, 5, p. 506-509 4 p.

Research output: Contribution to journalComment/debate

Paraganglioma
Pheochromocytoma
Genotype
Phenotype