DusicaBabovic-VuksanovicMDFAAP, FACMG

PubMed

• Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data.
  Alejandro Ferrer, Patrick Duffy, Rory J Olson, Michael A Meiners, Laura Schultz-Rogers, Erica L Macke, Stephanie Safgren, Joel A Morales-Rosado, Margot A Cousin, Gavin...> ;Human Genetics. 2024 Mar 27
• 1 citations
  Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy.
  Shaan Bhandarkar, Dusica Babovic-Vuksanovic, Ian F Parney, Robert J Spinner, Bhandarkar, A.> ;Journal of Neuro-Oncology. 2023 Sep 1
• 1 citations
  Aortic Dissection in a Young Patient With Unsuspected Aortopathy.
  Yalile Perez, M Yasir Qureshi, Dusica Babovic-Vuksanovic, Bryan Cannon> ;Pediatrics. 2023 Aug 1
• 7 citations
  Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
  Bergithe E Oftedal, Kristian Assing, Safa Baris, Stephanie L Safgren, Isik S Johansen, Marianne Antonius Jakobsen, Dusica Babovic-Vuksanovic, Katherine Agre, Eric W Kl...> ;Iscience. 2023 Jun 16
• 4 citations
  Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
  Julian Delanne, Magaly Lecat, Patrick R Blackburn, Eric W Klee, Constance T R M Stumpel, Sander Stegmann, Servi J C Stevens, Caroline Nava, Delphine Heron, Boris Keren...> ;European Journal of Medical Genetics. 2023 Jan 1
• 4 citations
  Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.
  Lauren O'Grady, Samantha A Schrier Vergano, Trevor L Hoffman, Dean Sarco, Sara Cherny, Emily Bryant, Laura Schultz-Rogers, Wendy K Chung, Stephanie Sacharow, Ladonna L...> ;American Journal of Medical Genetics. Part A. 2022 Sep 1
• 60 citations
  Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
  Scott R Plotkin, Ludwine Messiaen, Eric Legius, Patrice Pancza, Robert A Avery, Jaishri O Blakeley, Dusica Babovic-Vuksanovic, Rosalie Ferner, Michael J Fisher, Jan M ...> ;Genetics in Medicine. 2022 Sep 1
• 2 citations
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
  Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Maria Arelin, Geoffrey Beek, Mir Reza Bekheirnia, Jasmin Beygo, Vikas Bhambhani, Ma...> ;Genome Medicine. 2022 Jun 13
• 8 citations
  Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in.
  Deepa S Rajan, Sukhleen Kour, Tyler R Fortuna, Margot A Cousin, Sarah S Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W Klee, Brian Kirmse, Micheil Innes, Siri L...> ;Frontiers in Cell and Developmental Biology. 2022 Jan 1
• 1 citations
  Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums.
  Karthik Muthusamy, Aseel El-Jabali, Laura J Ongie, Radhika Dhamija, Dusica Babovic-Vuksanovic> ;American Journal of Medical Genetics. Part A. 2021 Nov 19
• 3 citations
  WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.
  Elena A. Sorokina, Linda M. Reis, Samuel Thompson, Katherine Agre, Dusica Babovic-Vuksanovic, Marissa S. Ellingson, Linda Hasadsri, Yolande van Bever, Elena V. Semina> ;Human Genetics. 2021 Oct 12
• 1 citations
  REiNS: Imaging Evaluation of Plexiform Neurofibromas in Neurofibromatosis Type 1: A Survey-Based Assessment
  Shivani Ahlawat, K. Ina Ly, Laura M. Fayad, Michael Fisher, Andrés J. Lessing, Dale J. Berg, Johannes Salamon, Victor-Felix Mautner, Dusica Babovic-Vuksanovic, Eva Dom...> ;Neurology. 2021 Jul 6
• 7 citations
  TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study
  Bradley Bowles, Alejandro Ferrer, Carla Nishimura, Filippo Vairo, Tristan Rey, Bruno Leheup, Jennifer A. Sullivan, Kelly Schoch, Nicholas Stong, Emanuele Agolini, Dari...> ;American Journal of Medical Genetics. Part A. 2021 May 27
• 240 citations
  Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
  Eric Legius, Ludwine Messiaen, Pierre Wolkenstein, P Pancza, Robert A. Avery, Yemima Berman, J. Blakeley, Dusica Babovic-Vuksanovic, Karin Soares Gonçalves Cunha, Rosa...> ;Genetics in Medicine. 2021 May 19
• 5 citations
  Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome
  Xiao Jing Wang, Mary Babameto, Dusica Babovic-Vuksanovic, Juan M. Bowen, Michael Camilleri> ;Digestive Diseases and Sciences. 2021 Apr 1
• 18 citations
  Impact of integrated translational research on clinical exome sequencing.
  Eric W. Klee, Margot A. Cousin, Filippo Vairo, Joel A. Morales-Rosado, Erica L. Macke, Garrett Jenkinson, Alejandro Ferrer, Laura Schultz-Rogers, Rory J. Olson, Gavin ...> ;Genetics in Medicine. 2021 Mar 1
• Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.
  Joanna Kennedy, David Goudie, Edward Blair, Kate Chandler, Shelagh Joss, Victoria McKay, Andrew Green, Ruth Armstrong, Melissa Lees, Benjamin Kamien, Bruce Hopper, Tio...> ;Genetics in Medicine. 2020 Nov 1
• 16 citations
  Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up
  Nana Esi Kittah, Lucinda Gruber, Irina Bancos, Oksana Hamidi, Shrikant Tamhane, Nicole M. Iñiguez-Ariza, Dusica Babovic-Vuksanovic, Aida N. Lteif, William F. Young, Da...> ;Clinical Endocrinology. 2020 May 14
• 95 citations
  Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development
  Ashley L. Lennox, Mariah L. Hoye, Ruiji Jiang, Bethany L. Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan, Charles J. Sheehan, Fernando C. Alsina, Brieana Fregeau...> ;Neuron. 2020 May 6
• 12 citations
  SPECC1L regulates palate development downstream of IRF6
  Everett G. Hall, Luke W. Wenger, Nathan R. Wilson, Sraavya S. Undurty-Akella, Jennifer Standley, Eno Abasi Augustine-Akpan, Youssef A. Kousa, Diana S. Acevedo, Jeremy ...> ;Human Molecular Genetics. 2020 Mar 27
• 64 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 5 citations
  An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type I.
  Cinthya J. Zepeda-Mendoza, Margot A. Cousin, Shubham Basu, Garrett Jenkinson, Gavin R. Oliver, Siobhan T. Pittock, Linda B. Baughn, Eric W. Klee, Dusica Babovic-Vuksan...> ;Cold Spring Harbor Molecular Case Studies. 2019 Dec 13
• 7 citations
  Oncolytic Measles Virotherapy and Opposition to Measles Vaccination
  Stephen J. Russell, Dusica Babovic-Vuksanovic, Alice Bexon, Roberto Cattaneo, David Dingli, Angela Dispenzieri, David R. Deyle, Mark J. Federspiel, Adele K. Fielding, ...> ;Mayo Clinic Proceedings. 2019 Jun 22
• 38 citations
  Long‐Term Outcomes in Patients With Turner Syndrome: A 68‐Year Follow‐Up
  Margaret Fuchs, Christine H. Attenhofer Jost, Dusica Babovic-Vuksanovic, Heidi M. Connolly, Alexander C. Egbe> ;Journal of the American Heart Association. 2019 Jun 4
• 7 citations
  Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
  Patrick R. Blackburn, Cinthya J. Zepeda-Mendoza, Teresa M. Kruisselbrink, Lisa A. Schimmenti, Sixto García-Miñaur, María Palomares, Julián Nevado, María A. Mori, Guylè...> ;European Journal of Human Genetics. 2019 May 3
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