Dusica Babovic-Vuksanovic

2023

Aortic Dissection in a Young Patient With Unsuspected Aortopathy

Perez, Y., Qureshi, M. Y., Babovic-Vuksanovic, D. & Cannon, B., Aug 2023, In: Pediatrics. 152, 2, e2022057694.

Research output: Contribution to journal › Article › peer-review

Characterizing T-cell dysfunction and exclusion signatures in malignant peripheral nerve sheath tumors reveals susceptibilities to immunotherapy

Bhandarkar, A. R., Bhandarkar, S., Babovic-Vuksanovic, D., Parney, I. F. & Spinner, R. J., Sep 2023, In: Journal of neuro-oncology. 164, 3, p. 693-699 7 p.

Research output: Contribution to journal › Article › peer-review

Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes

Oftedal, B. E., Assing, K., Baris, S., Safgren, S. L., Johansen, I. S., Jakobsen, M. A., Babovic-Vuksanovic, D., Agre, K., Klee, E. W., Majcic, E., Ferré, E. M. N., Schmitt, M. M., DiMaggio, T., Rosen, L. B., Rahman, M. O., Chrysis, D., Giannakopoulos, A., Garcia, M. T., González-Granado, L. I., Stanley, K., & 5 othersGalant-Swafford, J., Suwannarat, P., Meyts, I., Lionakis, M. S. & Husebye, E. S., Jun 16 2023, In: iScience. 26, 6, 106818.

Research output: Contribution to journal › Article › peer-review

Open Access

Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9))

Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 othersMulvihill, L. A., McAllister, T. M., Aoudia, S. L., Kruisselbrink, T. M., Gunderson, L. B., Kemppainen, J. L., Fisher, L. J., Tarnowski, J. M., Hager, M. M., Kroc, S. A., Bertsch, N. L., Agre, K. E., Jackson, J. L., Macklin-Mantia, S. K., Murphree, M. I., Rust, L. M., Summer Bolster, J. M., Beck, S. A., Atwal, P. S., Ellingson, M. S., Barnett, S. S., Rasmussen, K. J., Lahner, C. A., Niu, Z., Hasadsri, L., Ferber, M. J., Marcou, C. A., Clark, K. J., Pichurin, P. N., Deyle, D. R., Morava-Kozicz, E., Gavrilova, R. H., Dhamija, R., Wierenga, K. J., Lanpher, B. C., Babovic-Vuksanovic, D., Farrugia, G., Schimmenti, L. A., Stewart, A. K. & Lazaridis, K. N., Feb 2023, In: Genetics in Medicine. 25, 2, 100359.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

Delanne, J., Lecat, M., Blackburn, P. R., Klee, E. W., Stumpel, C. T. R. M., Stegmann, S., Stevens, S. J. C., Nava, C., Heron, D., Keren, B., Mahida, S., Naidu, S., Babovic-Vuksanovic, D., Herkert, J. C., Torring, P. M., Kibæk, M., De Bie, I., Pfundt, R., Hendriks, Y. M. C., Ousager, L. B., & 15 othersBend, R., Warren, H., Skinner, S. A., Lyons, M. J., Pöe, C., Chevarin, M., Jouan, T., Garde, A., Thomas, Q., Kuentz, P., Tisserant, E., Duffourd, Y., Philippe, C., Faivre, L. & Thauvin-Robinet, C., Jan 2023, In: European Journal of Medical Genetics. 66, 1, 104670.

Research output: Contribution to journal › Article › peer-review

Open Access

2022

Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5

Rajan, D. S., Kour, S., Fortuna, T. R., Cousin, M. A., Barnett, S. S., Niu, Z., Babovic-Vuksanovic, D., Klee, E. W., Kirmse, B., Innes, M., Rydning, S. L., Selmer, K. K., Vigeland, M. D., Erichsen, A. K., Nemeth, A. H., Millan, F., DeVile, C., Fawcett, K., Legendre, A., Sims, D., & 10 othersSchnekenberg, R. P., Burglen, L., Mercier, S., Bakhtiari, S., Martinez-Salas, E., Wigby, K., Lenberg, J., Friedman, J. R., Kruer, M. C. & Pandey, U. B., Feb 28 2022, In: Frontiers in Cell and Developmental Biology. 10, 783762.

Research output: Contribution to journal › Article › peer-review

Open Access

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Cousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., & 51 othersGavrilova, R. H., Graham, J. M., Haack, T. B., Juusola, J., Kant, S. G., Kayani, S., Keren, B., Ketteler, P., Klöckner, C., Koopmann, T. T., Kruisselbrink, T. M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R. R., Leduc, M. S., Leonardi, E., Lewis, A. M., Liew, W., Machol, K., Mardini, S., McWalter, K., Mignot, C., McLaughlin, J., Murgia, A., Narayanan, V., Nava, C., Neuser, S., Nizon, M., Ognibene, D., Park, J., Platzer, K., Poirsier, C., Radtke, M., Ramsey, K., Runke, C. K., Guillen Sacoto, M. J., Scaglia, F., Shinawi, M., Spranger, S., Tan, E. S., Taylor, J., Trentesaux, A. S., Vairo, F., Willaert, R., Zadeh, N., Urrutia, R., Babovic-Vuksanovic, D., Zimmermann, M. T., Mathie, A. & Klee, E. W., Dec 2022, In: Genome medicine. 14, 1, 62.

Research output: Contribution to journal › Article › peer-review

Open Access

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders

O'Grady, L., Schrier Vergano, S. A., Hoffman, T. L., Sarco, D., Cherny, S., Bryant, E., Schultz-Rogers, L., Chung, W. K., Sacharow, S., Immken, L. L., Holder, S., Blackwell, R. R., Buchanan, C., Yusupov, R., Lecoquierre, F., Guerrot, A. M., Rodan, L., de Vries, B. B. A., Kamsteeg, E. J., Santos Simarro, F., & 14 othersPalomares-Bralo, M., Brown, N., Pais, L., Ferrer, A., Klee, E. W., Babovic-Vuksanovic, D., Rhodes, L., Person, R., Begtrup, A., Keller-Ramey, J., Santiago-Sim, T., Schnur, R. E., Sweetser, D. A. & Gold, N. B., Sep 2022, In: American Journal of Medical Genetics, Part A. 188, 9, p. 2750-2759 10 p.

Research output: Contribution to journal › Article › peer-review

Neurofibromatosis 1 in the setting of dual diagnosis: Diagnostic and management conundrums

Muthusamy, K., El-Jabali, A., Ongie, L. J., Dhamija, R. & Babovic-Vuksanovic, D., Mar 2022, In: American Journal of Medical Genetics, Part A. 188, 3, p. 911-918 8 p.

Research output: Contribution to journal › Article › peer-review

Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation

Thompson, A. F., Blackburn, P. R., Arons, N. S., Stevens, S. N., Babovic-Vuksanovic, D., Lian, J. B., Klee, E. W. & Stumpff, J. K., Jun 2022, In: eLife. 11, e78653.

Research output: Contribution to journal › Article › peer-review

Open Access

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation

International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Sep 2022, In: Genetics in Medicine. 24, 9, p. 1967-1977 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2021

Audit of Gastrointestinal Manifestations in Patients with Loeys–Dietz Syndrome and Vascular Ehlers–Danlos Syndrome

Wang, X. J., Babameto, M., Babovic-Vuksanovic, D., Bowen, J. M. & Camilleri, M., Apr 2021, In: Digestive diseases and sciences. 66, 4, p. 1142-1152 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Imaging Evaluation of Plexiform Neurofibromas in Neurofibromatosis Type 1: A Survey-Based Assessment

Ahlawat, S., Ly, K. I., Fayad, L. M., Fisher, M. J., Lessing, A. J., Berg, D. J., Salamon, J. M., Mautner, V. F., Babovic-Vuksanovic, D., Dombi, E., Harris, G., Plotkin, S. R. & Blakeley, J., Aug 17 2021, In: Neurology. 97, 7, p. S111-S119

Research output: Contribution to journal › Article › peer-review

Open Access

Impact of integrated translational research on clinical exome sequencing

Klee, E. W., Cousin, M. A., Pinto e Vairo, F., Morales-Rosado, J. A., Macke, E. L., Jenkinson, W. G., Ferrer, A., Schultz-Rogers, L. E., Olson, R. J., Oliver, G. R., Sigafoos, A. N., Schwab, T. L., Zimmermann, M. T., Urrutia, R. A., Kaiwar, C., Gupta, A., Blackburn, P. R., Boczek, N. J., Prochnow, C. A., Lowy, R. J., & 40 othersMulvihill, L. A., McAllister, T. M., Aoudia, S. L., Kruisselbrink, T. M., Gunderson, L. B., Kemppainen, J. L., Fisher, L. J., Tarnowski, J. M., Hager, M. M., Kroc, S. A., Bertsch, N. L., Agre, K. E., Jackson, J. L., Macklin-Mantia, S. K., Murphree, M. I., Rust, L. M., Summer Bolster, J. M., Beck, S. A., Atwal, P. S., Ellingson, M. S., Barnett, S. S., Rasmussen, K. J., Lahner, C. A., Niu, Z., Hasadsri, L., Ferber, M. J., Marcou, C. A., Clark, K. J., Pichurin, P. N., Deyle, D. R., Morava-Kozicz, E., Gavrilova, R. H., Dhamija, R., Wierenga, K. J., Lanpher, B. C., Babovic-Vuksanovic, D., Farrugia, G., Schimmenti, L. A., Stewart, A. K. & Lazaridis, K. N., Mar 2021, In: Genetics in Medicine. 23, 3, p. 498-507 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC), Aug 2021, In: Genetics in Medicine. 23, 8, p. 1506-1513 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Undiagnosed Diseases Network, Aug 2021, In: American Journal of Medical Genetics, Part A. 185, 8, p. 2417-2433 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins

Sorokina, E. A., Reis, L. M., Thompson, S., Agre, K., Babovic-Vuksanovic, D., Ellingson, M. S., Hasadsri, L., van Bever, Y. & Semina, E. V., Dec 2021, In: Human genetics. 140, 12, p. 1775-1789 15 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2020

Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow-up

Kittah, N. E., Gruber, L. M., Bancos, I., Hamidi, O., Tamhane, S., Iñiguez-Ariza, N., Babovic-Vuksanovic, D., Thompson, G. B., Lteif, A., Young, W. F. & Erickson, D., Sep 1 2020, In: Clinical Endocrinology. 93, 3, p. 288-295 8 p.

Research output: Contribution to journal › Article › peer-review

5 Scopus 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

Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M., & 88 othersD'Agostino, M. D., Delatycki, M. B., Digilio, M. C., Dosa, L., Esposito, S., Fox, S., Freckmann, M. L., Fauth, C., Giugliano, T., Giustini, S., Goetsch, A., Goldberg, Y., Greenwood, R. S., Griffis, C., Gripp, K. W., Gupta, P., Haan, E., Hachen, R. K., Haygarth, T. L., Hernández-Chico, C., Hodge, K., Hopkin, R. J., Hudgins, L., Janssens, S., Keller, K., Kelly-Mancuso, G., Kochhar, A., Korf, B. R., Lewis, A. M., Liebelt, J., Lichty, A., Listernick, R. H., Lyons, M. J., Maystadt, I., Martinez Ojeda, M., McDougall, C., McGregor, L. K., Melis, D., Mendelsohn, N., Nowaczyk, M. J. M., Ortenberg, J., Panzer, K., Pappas, J. G., Pierpont, M. E., Piluso, G., Pinna, V., Pivnick, E. K., Pond, D. A., Powell, C. M., Rogers, C., Ruhrman Shahar, N., Rutledge, S. L., Saletti, V., Sandaradura, S. A., Santoro, C., Schatz, U. A., Schreiber, A., Scott, D. A., Sellars, E. A., Sheffer, R., Siqveland, E., Slopis, J. M., Smith, R., Spalice, A., Stockton, D. W., Streff, H., Theos, A., Tomlinson, G. E., Tran, G., Trapane, P. L., Trevisson, E., Ullrich, N. J., Van den Ende, J., Schrier Vergano, S. A., Wallace, S. E., Wangler, M. F., Weaver, D. D., Yohay, K. H., Zackai, E., Zonana, J., Zurcher, V., Claes, K. B. M., Eoli, M., Martin, Y., Wimmer, K., De Luca, A., Legius, E. & Messiaen, L. M., Jan 1 2020, In: Human mutation. 41, 1, p. 299-315 17 p.

Research output: Contribution to journal › Article › peer-review

Open Access

22 Scopus citations

Correction: KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants (Genetics in Medicine, (2019), 21, 4, (850-860), 10.1038/s41436-018-0259-2)

The DDD Study, Nov 1 2020, In: Genetics in Medicine. 22, 11, p. 1920 1 p.

Research output: Contribution to journal › Comment/debate › peer-review

Open Access

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Lennox, A. L., Hoye, M. L., Jiang, R., Johnson-Kerner, B. L., Suit, L. A., Venkataramanan, S., Sheehan, C. J., Alsina, F. C., Fregeau, B., Aldinger, K. A., Moey, C., Lobach, I., Afenjar, A., Babovic-Vuksanovic, D., Bézieau, S., Blackburn, P. R., Bunt, J., Burglen, L., Campeau, P. M., Charles, P., & 34 othersChung, B. H. Y., Cogné, B., Curry, C., D'Agostino, M. D., Di Donato, N., Faivre, L., Héron, D., Innes, A. M., Isidor, B., Keren, B., Kimball, A., Klee, E. W., Kuentz, P., Küry, S., Martin-Coignard, D., Mirzaa, G., Mignot, C., Miyake, N., Matsumoto, N., Fujita, A., Nava, C., Nizon, M., Rodriguez, D., Blok, L. S., Thauvin-Robinet, C., Thevenon, J., Vincent, M., Ziegler, A., Dobyns, W., Richards, L. J., Barkovich, A. J., Floor, S. N., Silver, D. L. & Sherr, E. H., May 6 2020, In: Neuron. 106, 3, p. 404-420.e8

Research output: Contribution to journal › Article › peer-review

Open Access

20 Scopus citations

SPECC1L regulates palate development downstream of IRF6

Hall, E. G., Wenger, L. W., Wilson, N. R., Undurty-Akella, S. S., Standley, J., Augustine-Akpan, E. A., Kousa, Y. A., Acevedo, D. S., Goering, J. P., Pitstick, L., Natsume, N., Paroya, S. M., Busch, T. D., Ito, M., Mori, A., Imura, H., Schultz-Rogers, L. E., Klee, E. W., Babovic-Vuksanovic, D., Kroc, S. A., & 8 othersAdeyemo, W. L., Eshete, M. A., Bjork, B. C., Suzuki, S., Murray, J. C., Schutte, B. C., Butali, A. & Saadi, I., Mar 1 2020, In: Human molecular genetics. 29, 5, p. 845-858 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

2019

An intragenic duplication of TRPS1 leading to abnormal transcripts and causing trichorhinophalangeal syndrome type i

Zepeda-Mendoza, C. J., Cousin, M. A., Basu, S., Jenkinson, G., Oliver, G., Pittock, S. T., Baughn, L. B., Klee, E. W. & Babovic-Vuksanovic, D., 2019, In: Cold Spring Harbor Molecular Case Studies. 5, 6, a004655.

Research output: Contribution to journal › Article › peer-review

Open Access

Genomics as a Scientifically Based Fortune-teller

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

Research output: Contribution to journal › Editorial › peer-review

Open Access

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

The DDD Study, Apr 1 2019, In: Genetics in Medicine. 21, 4, p. 850-860 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Late-onset Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Presenting with Auditory Agnosia

Smith, K., Chiu, S., Hunt, C., Chandregowda, A., Babovic-Vuksanovic, D. & Keegan, B. M., May 1 2019, In: Neurologist. 24, 3, p. 90-92 3 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Long-Term Outcomes in Patients With Turner Syndrome: A 68-Year Follow-Up

Fuchs, M. M., Attenhofer Jost, C., Babovic-Vuksanovic, D., Connolly, H. M. & Egbe, A., Jun 4 2019, In: Journal of the American Heart Association. 8, 11, e011501.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Oncolytic Measles Virotherapy and Opposition to Measles Vaccination

Russell, S. J., Babovic-Vuksanovic, D., Bexon, A., Cattaneo, R., Dingli, D., Dispenzieri, A., Deyle, D. R., Federspiel, M. J., Fielding, A., Galanis, E., Lacy, M. Q., Leibovich, B. C., Liu, M. C., Muñoz-Alía, M., Miest, T. C., Molina, J. R., Mueller, S., Okuno, S. H., Packiriswamy, N., Peikert, T., & 6 othersRaffel, C., Van Rhee, F., Ungerechts, G., Young, P. R., Zhou, Y. & Peng, K. W., Sep 2019, In: Mayo Clinic proceedings. 94, 9, p. 1834-1839 6 p.

Research output: Contribution to journal › Review article › peer-review

Open Access

5 Scopus citations

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., Ferber, M., Van Hul, E., van der Werf, I. M., Wuyts, W., Babovic-Vuksanovic, D. & Klee, E. W., Mar 2019, In: Molecular Genetics and Genomic Medicine. 7, 3, e00560.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases

Blackburn, P. R., Zepeda-Mendoza, C. J., Kruisselbrink, T. M., Schimmenti, L. A., García-Miñaur, S., Palomares, M., Nevado, J., Mori, M. A., Le Meur, G., Klee, E. W., Le Caignec, C., Lapunzina, P., Isidor, B. & Babovic-Vuksanovic, D., Sep 1 2019, In: European Journal of Human Genetics. 27, 9, p. 1379-1388 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Variants in DOCK3 cause developmental delay and hypotonia

Wiltrout, K., Ferrer, A., van de Laar, I., Namekata, K., Harada, T., Klee, E. W., Zimmerman, M. T., Cousin, M. A., Kempainen, J. L., Babovic-Vuksanovic, D., van Slegtenhorst, M. A., Aarts-Tesselaar, C. D., Schnur, R. E., Andrews, M. & Shinawi, M., Aug 1 2019, In: European Journal of Human Genetics. 27, 8, p. 1225-1234 10 p.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

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 journal › Article › peer-review

Open Access

5 Scopus citations

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., Sep 1 2018, In: Journal of child neurology. 33, 10, p. 651-658 8 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus 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 2018, In: Clinical Genetics. 93, 1, p. 187-190 4 p.

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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 2018, In: American Journal of Medicine. 131, 5, p. 506-509 4 p.

Research output: Contribution to journal › Comment/debate › peer-review

2 Scopus citations

2017

An association of peripheral nerve sheath tumors and lipomas

Elsherif, M. A., Babovic-Vuksanovic, D. & Spinner, R. J., Jan 1 2017, In: Acta Neurochirurgica. 159, 1, p. 185-190 6 p.

Research output: Contribution to journal › Article › peer-review

A novel de novo frameshift deletion in EHMT1 in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylation

Blackburn, P. R., Williams, M., Cousin, M. A., Boczek, N. J., Beek, G. J., Lomberk, G. A., Urrutia, R. A., Babovic-Vuksanovic, D. & Klee, E. W., Mar 2017, In: Molecular Genetics and Genomic Medicine. 5, 2, p. 141-146 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Cryptogenic cirrhosis and sitosterolemia: A treatable disease if identified but fatal if missed

Bazerbachi, F., Conboy, E. E., Mounajjed, T., Watt, K. D., Babovic-Vuksanovic, D., Patel, S. B. & Kamath, P. S., Nov 1 2017, In: Annals of hepatology. 16, 6, p. 970-978 9 p.

Research output: Contribution to journal › Article › peer-review

Open Access

9 Scopus citations

Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Kaiwar, C., Zimmermann, M. T., Ferber, M. J., Niu, Z., Urrutia, R. A., Klee, E. W. & Babovic-Vuksanovic, D., Nov 1 2017, In: Cold Spring Harbor Molecular Case Studies. 3, 6

Research output: Contribution to journal › Article › peer-review

Open Access

19 Scopus citations

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients

Cousin, M. A., Matey, E. T., Blackburn, P. R., Boczek, N. J., McAllister, T. M., Kruisselbrink, T. M., Babovic-Vuksanovic, D., Lazaridis, K. N. & Klee, E. W., May 2017, In: Molecular Genetics and Genomic Medicine. 5, 3, p. 269-279 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1

Gruber, L. M., Erickson, D., Babovic-Vuksanovic, D., Thompson, G. B., Young, W. F. & Bancos, I., Jan 1 2017, In: Clinical Endocrinology. 86, 1, p. 141-149 9 p.

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

The prevalence of diseases caused by lysosome-related genes in a cohort of undiagnosed patients

Vairo, F. P., Boczek, N. J., Cousin, M. A., Kaiwar, C., Blackburn, P. R., Conboy, E., Lanpher, B. C., Gavrilova, R. H., Pichurin, P. N., Lazaridis, K. N., Babovic-Vuksanovic, D. & Klee, E. W., Dec 2017, In: Molecular Genetics and Metabolism Reports. 13, p. 46-51 6 p.

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

2016

Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing

Shi, Y., Dhamija, R., Wren, C., Wang, X., Babovic-Vuksanovic, D. & Spector, E., Dec 1 2016, In: American Journal of Medical Genetics, Part A. 170, 12, p. 3359 1 p.

Research output: Contribution to journal › Letter › peer-review

3 Scopus citations

Liposuction in the treatment of plexiform neurofibromas

Babovic, S. & Babovic-Vuksanovic, D., Jan 1 2016, Liposuction: Principles and Practice, Second Edition. Springer Berlin Heidelberg, p. 695-699 5 p.

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience

Lazaridis, K. N., Schahl, K. A., Cousin, M. A., Babovic-Vuksanovic, D., Riegert-Johnson, D. L., Gavrilova, R. H., McAllister, T. M., Lindor, N. M., Abraham, R. S., Ackerman, M. J., Pichurin, P. N., Deyle, D. R., Gavrilov, D. K., Hand, J. L., Klee, E. W., Stephens, M. C., Wick, M. J., Atkinson, E. J., Linden, D. R., Ferber, M. J., & 19 othersWieben, E. D., Farrugia, G., Baudhuin, L. M., Beck, S. A., Beek, G. J., Go, R. S., Guthrie, K. J., Hovan, M. J., Hunt, K. S., Kemppainen, J. L., Kruisselbrink, T. M., McCormick, J. B., McLaughlin, B. M., Murphree, M. I., Niewold, T. B., Oglesbee, D., Reed, A., Thibodeau, S. N. & Thorland, E. C., Mar 1 2016, In: Mayo Clinic proceedings. 91, 3, p. 297-307 11 p.

Research output: Contribution to journal › Article › peer-review

65 Scopus citations

Phenotype analysis impacts testing strategy in patients with Currarino syndrome

Cuturilo, G., Hodge, J. C., Runke, C. K., Thorland, E. C., Al-Owain, M. A., Ellison, J. W. & Babovic-Vuksanovic, D., Jan 1 2016, In: Clinical Genetics. 89, 1, p. 109-114 6 p.

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

2015

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

Rojnueangnit, K., Xie, J., Gomes, A., Sharp, A., Callens, T., Chen, Y., Liu, Y., Cochran, M., Abbott, M. A., Atkin, J., Babovic-Vuksanovic, D., Barnett, C. P., Crenshaw, M., Bartholomew, D. W., Basel, L., Bellus, G., Ben-Shachar, S., Bialer, M. G., Bick, D., Blumberg, B., & 53 othersCortes, F., David, K. L., Destree, A., Duat-Rodriguez, A., Earl, D., Escobar, L., Eswara, M., Ezquieta, B., Frayling, I. M., Frydman, M., Gardner, K., Gripp, K. W., Hernández-Chico, C., Heyrman, K., Ibrahim, J., Janssens, S., Keena, B. A., Llano-Rivas, I., Leppig, K., Mcdonald, M., Misra, V. K., Mulbury, J., Narayanan, V., Orenstein, N., Galvin-Parton, P., Pedro, H., Pivnick, E. K., Powell, C. M., Randolph, L., Raskin, S., Rosell, J., Rubin, K., Seashore, M., Schaaf, C. P., Scheuerle, A., Schultz, M., Schorry, E., Schnur, R., Siqveland, E., Tkachuk, A., Tonsgard, J., Upadhyaya, M., Verma, I. C., Wallace, S., Williams, C., Zackai, E., Zonana, J., Lazaro, C., Claes, K., Korf, B., Martin, Y., Legius, E. & Messiaen, L., Nov 2015, In: Human mutation. 36, 11, p. 1052-1063 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

79 Scopus citations

Oncolytic measles virus as a novel therapy for malignant peripheral nerve sheath tumors

Deyle, D. R., Escobar, D. Z., Peng, K. W. & Babovic-Vuksanovic, D., Jul 1 2015, In: Gene. 565, 1, p. 140-145 6 p.

Research output: Contribution to journal › Article › peer-review

14 Scopus citations

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines

Conboy, E., Dhamija, R., Wang, M., Xie, J., Dyck, P. J., Bridges, A. G., Spinner, R. J., Clayton, A. C., Watson, R. E., Messiaen, L. & Babovic-Vuksanovic, D., Sep 2 2015, In: Journal of medical genetics. 53, 2, p. 123-126 4 p.

Research output: Contribution to journal › Article › peer-review

12 Scopus citations

2014

Genomic medicine and incidental findings: Balancing actionability and patient autonomy

McCormick, J. B., Sharp, R. R., Farrugia, G., Lindor, N. M., Babovic-Vuksanovic, D., Borad, M. J., Bryce, A. H., Caselli, R. J., Ferber, M. J., Johnson, K. J., Lazaridis, K. N., McWilliams, R. R., Murray, J. A., Parker, A. S., Schahl, K. A. & Wieben, E. D., Jun 2014, In: Mayo Clinic proceedings. 89, 6, p. 718-721 4 p.

Research output: Contribution to journal › Short survey › peer-review

10 Scopus citations

Dusica Babovic-Vuksanovic, MD

Research output

Search results