Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin by McDonell, Laura M, Kernohan, Kristin D, Boycott, Kym M, Sawyer, Sarah L

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Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis by Bennett, James T., Tan, Tiong Yang, Alcantara, Diana, Tétrault, Martine, Timms, Andrew E., Jensen, Dana, Collins, Sarah, Nowaczyk, Malgorzata J.M., Lindhurst, Marjorie J., Christensen, Katherine M., Braddock, Stephen R., Brandling-Bennett, Heather, Hennekam, Raoul C.M., Chung, Brian, Lehman, Anna, Su, John, Ng, SuYuen, Amor, David J., Majewski, Jacek, Biesecker, Les G., Boycott, Kym M., Dobyns, William B., O’Driscoll, Mark, Moog, Ute, McDonell, Laura M.

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Insulinoma presenting as hypoglycemia during lactose tolerance testing: a case report by Munro, Vicki, McDonell, Laura M, Keough, Valerie, Siddiqi, Ferhan S

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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures by Gennarino, Vincenzo A., Palmer, Elizabeth E., McDonell, Laura M., Wang, Li, Adamski, Carolyn J., Koire, Amanda, See, Lauren, Chen, Chun-An, Schaaf, Christian P., Rosenfeld, Jill A., Panzer, Jessica A., Moog, Ute, Hao, Shuang, Bye, Ann, Kirk, Edwin P., Stankiewicz, Pawel, Breman, Amy M., McBride, Arran, Kandula, Tejaswi, Dubbs, Holly A., Macintosh, Rebecca, Cardamone, Michael, Zhu, Ying, Ying, Kevin, Dias, Kerith-Rae, Cho, Megan T., Henderson, Lindsay B., Baskin, Berivan, Morris, Paula, Tao, Jiang, Cowley, Mark J., Dinger, Marcel E., Roscioli, Tony, Caluseriu, Oana, Suchowersky, Oksana, Sachdev, Rani K., Lichtarge, Olivier, Tang, Jianrong, Boycott, Kym M., Holder, J. Lloyd, Zoghbi, Huda Y.

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Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension by McDonell, Laura M., Leung, Gordon Ka‐Chun, Daoud, Hussein, Ip, Janice, Chim, Stella, Luk, Ho Ming, Lan, Lawrence, Boycott, Kym M., Chung, Brian Hon‐Yin

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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome by McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M

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Separate and combined effects of advanced age and obesity on mammary adipose inflammation, immunosuppression and tumor progression in mouse models of triple negative breast cancer by Smith, Laura A, Craven, Dalton M, Rainey, Magdalena A, Cozzo, Alyssa J, Carson, Meredith S, Glenny, Elaine M, Sheth, Nishita, McDonell, Shannon B, Rezeli, Erika T, Montgomery, Stephanie A, Bowers, Laura W, Coleman, Michael F, Hursting, Stephen D

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17p13.3 microduplications are associated with split-hand foot malformation and long-bone deficiency (SHFLD) by Armour, Christine M, Bulman, Dennis E, Jarinova, Olga, Rogers, Richard Curtis, Clarkson, Kate B, DuPont, Barbara R, Dwivedi, Alka, Bartel, Frank O, McDonell, Laura, Schwartz, Charles E, Boycott, Kym M, Everman, David B, Graham, Gail E

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