Bilateral pheochromocytoma: Clinical characteristics, treatment and longitudinal follow‐up
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Published in Clinical endocrinology (Oxford) (01.09.2020)
Published in Clinical endocrinology (Oxford) (01.09.2020)
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Pathogenic mutations in the chromokinesin KIF22 disrupt anaphase chromosome segregation
Thompson, Alex F, Blackburn, Patrick R, Arons, Noah S, Stevens, Sarah N, Babovic-Vuksanovic, Dusica, Lian, Jane B, Klee, Eric W, Stumpff, Jason
Published in eLife (22.06.2022)
Published in eLife (22.06.2022)
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Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders
O'Grady, Lauren, Schrier Vergano, Samantha A., Hoffman, Trevor L., Sarco, Dean, Cherny, Sara, Bryant, Emily, Schultz‐Rogers, Laura, Chung, Wendy K., Sacharow, Stephanie, Immken, Ladonna L., Holder, Susan, Blackwell, Rebecca R., Buchanan, Catherine, Yusupov, Roman, Lecoquierre, François, Guerrot, Anne‐Marie, Rodan, Lance, Vries, Bert B. A., Kamsteeg, Erik Jan, Santos Simarro, Fernando, Palomares‐Bralo, Maria, Brown, Natasha, Pais, Lynn, Ferrer, Alejandro, Klee, Eric W., Babovic‐Vuksanovic, Dusica, Rhodes, Lindsay, Person, Richard, Begtrup, Amber, Keller‐Ramey, Jennifer, Santiago‐Sim, Teresa, Schnur, Rhonda E., Sweetser, David A., Gold, Nina B.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Mayer–Rokitansky–Küster–Hauser anomaly and its associated malformations
Pittock, Siobhán T., Babovic‐Vuksanovic, Dusica, Lteif, Aida
Published in American journal of medical genetics. Part A (15.06.2005)
Published in American journal of medical genetics. Part A (15.06.2005)
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RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.03.2019)
Published in Molecular genetics & genomic medicine (01.03.2019)
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Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients
Cousin, Margot A., Matey, Eric T., Blackburn, Patrick R., Boczek, Nicole J., McAllister, Tammy M., Kruisselbrink, Teresa M., Babovic‐Vuksanovic, Dusica, Lazaridis, Konstantinos N., Klee, Eric W.
Published in Molecular genetics & genomic medicine (01.05.2017)
Published in Molecular genetics & genomic medicine (01.05.2017)
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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, Magdalena, Callens, Tom, Chen, Yunjia, Gomes, Alicia, Hicks, Alesha D., Sharp, Angela, Johns, Eric, Uhas, Kim Armfield, Armstrong, Linlea, Bosanko, Katherine Armstrong, Babovic‐Vuksanovic, Dusica, Baker, Laura, Basel, Donald G., Bennett, James T., Chambers, Chelsea, Clarkson, Lola K., Clementi, Maurizio, Cortés, Fanny M., Cunningham, Mitch, D'Agostino, M. Daniela, Delatycki, Martin B., Digilio, Maria C., Dosa, Laura, Esposito, Silvia, Fox, Stephanie, Freckmann, Mary‐Louise, Fauth, Christine, Giugliano, Teresa, Giustini, Sandra, Goetsch, Allison, Greenwood, Robert S., Griffis, Cristin, Gripp, Karen W., Gupta, Punita, Haan, Eric, Hachen, Rachel K., Haygarth, Tamara L., Hernández‐Chico, Concepción, Hodge, Katelyn, Hopkin, Robert J., Hudgins, Louanne, Janssens, Sandra, Keller, Kory, Kelly‐Mancuso, Geraldine, Kochhar, Aaina, Korf, Bruce R., Lewis, Andrea M., Liebelt, Jan, Lichty, Angie, Listernick, Robert H., Lyons, Michael J., Maystadt, Isabelle, Martinez Ojeda, Mayra, McDougall, Carey, McGregor, Lesley K., Melis, Daniela, Mendelsohn, Nancy, Nowaczyk, Malgorzata J.M., Ortenberg, June, Panzer, Karin, Pierpont, Mary Ella, Piluso, Giulio, Pinna, Valentina, Pivnick, Eniko K., Pond, Dinel A., Powell, Cynthia M., Rogers, Caleb, Ruhrman Shahar, Noa, Rutledge, S. Lane, Saletti, Veronica, Sandaradura, Sarah A., Schatz, Ulrich A., Scott, Daryl A., Sellars, Elizabeth A., Sheffer, Ruth, Siqveland, Elizabeth, Slopis, John M., Smith, Rosemarie, Spalice, Alberto, Stockton, David W., Streff, Haley, Theos, Amy, Tomlinson, Gail E., Tran, Grace, Trapane, Pamela L., Trevisson, Eva, Ullrich, Nicole J., Van den Ende, Jenneke, Schrier Vergano, Samantha A., Wallace, Stephanie E., Wangler, Michael F., Yohay, Kaleb H., Zackai, Elaine, Zonana, Jonathan, Claes, Kathleen B. M., Eoli, Marica, Wimmer, Katharina, De Luca, Alessandro, Legius, Eric, Messiaen, Ludwine M.
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
Piotrowski, Arkadiusz, Xie, Jing, Liu, Ying F, Poplawski, Andrzej B, Gomes, Alicia R, Madanecki, Piotr, Fu, Chuanhua, Crowley, Michael R, Crossman, David K, Armstrong, Linlea, Babovic-Vuksanovic, Dusica, Bergner, Amanda, Blakeley, Jaishri O, Blumenthal, Andrea L, Daniels, Molly S, Feit, Howard, Gardner, Kathy, Hurst, Stephanie, Kobelka, Christine, Lee, Chung, Nagy, Rebecca, Rauen, Katherine A, Slopis, John M, Suwannarat, Pim, Westman, Judith A, Zanko, Andrea, Korf, Bruce R, Messiaen, Ludwine M
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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LCR-initiated rearrangements at the IDS locus, completed with Alu-mediated recombination or non-homologous end joining
Oshima, Junko, Lee, Jennifer A, Breman, Amy M, Fernandes, Priscilla H, Babovic-Vuksanovic, Dusica, Ward, Patricia A, Wolfe, Lynne A, Eng, Christine M, Del Gaudio, Daniela
Published in Journal of human genetics (01.07.2011)
Published in Journal of human genetics (01.07.2011)
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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
Sorokina, Elena A., Reis, Linda M., Thompson, Samuel, Agre, Katherine, Babovic-Vuksanovic, Dusica, Ellingson, Marissa S., Hasadsri, Linda, van Bever, Yolande, Semina, Elena V.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Cantagrel, Vincent, Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Dobyns, William B., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A., Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.
Published in Cell (23.07.2010)
Published in Cell (23.07.2010)
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Recommendations for imaging tumor response in neurofibromatosis clinical trials
Dombi, Eva, Ardern-Holmes, Simone L, Babovic-Vuksanovic, Dusica, Barker, Fred G, Connor, Steve, Evans, D Gareth, Fisher, Michael J, Goutagny, Stephane, Harris, Gordon J, Jaramillo, Diego, Karajannis, Matthias A, Korf, Bruce R, Mautner, Victor, Plotkin, Scott R, Poussaint, Tina Y, Robertson, Kent, Shih, Chie-Schin, Widemann, Brigitte C
Published in Neurology (19.11.2013)
Published in Neurology (19.11.2013)
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Phase II trial of pirfenidone in children and young adults with neurofibromatosis type 1 and progressive plexiform neurofibromas
Widemann, Brigitte C., Babovic-Vuksanovic, Dusica, Dombi, Eva, Wolters, Pamela L., Goldman, Stewart, Martin, Staci, Goodwin, Anne, Goodspeed, Wendy, Kieran, Mark W., Cohen, Bruce, Blaney, Susan M., King, Allison, Solomon, Jeffrey, Patronas, Nicholas, Balis, Frank M., Fox, Elizabeth, Steinberg, Seth M., Packer, Roger J
Published in Pediatric blood & cancer (01.09.2014)
Published in Pediatric blood & cancer (01.09.2014)
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Variants in DOCK3 cause developmental delay and hypotonia
Wiltrout, Kimberly, Ferrer, Alejandro, van de Laar, Ingrid, Namekata, Kazuhiko, Harada, Takayuki, Klee, Eric W, Zimmerman, Michael T, Cousin, Margot A, Kempainen, Jennifer L, Babovic-Vuksanovic, Dusica, van Slegtenhorst, Marjon A, Aarts-Tesselaar, Coranne D, Schnur, Rhonda E, Andrews, Marisa, Shinawi, Marwan
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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