Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1 von Kocak, Hande, Ballew, Bari J, Bisht, Kamlesh, Eggebeen, Rebecca, Hicks, Belynda D, Suman, Shalabh, O'Neil, Adri, Giri, Neelam, Maillard, Ivan, Alter, Blanche P, Keegan, Catherine E, Nandakumar, Jayakrishnan, Savage, Sharon A

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Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita von Ballew, Bari J., Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Boland, Joseph, Burdett, Laurie, Alter, Blanche P., Savage, Sharon A.

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Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival von Bai, Jiwei, Shi, Jianxin, Li, Chuzhong, Wang, Shuai, Zhang, Tongwu, Hua, Xing, Zhu, Bin, Koka, Hela, Wu, Ho-Hsiang, Song, Lei, Wang, Difei, Wang, Mingyi, Zhou, Weiyin, Ballew, Bari J., Zhu, Bin, Hicks, Belynda, Mirabello, Lisa, Parry, Dilys M., Zhai, Yixuan, Li, Mingxuan, Du, Jiang, Wang, Junmei, Zhang, Shuheng, Liu, Qian, Zhao, Peng, Gui, Songbai, Goldstein, Alisa M., Zhang, Yazhuo, Yang, Xiaohong R.

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A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome von Ballew, Bari J, Joseph, Vijai, De, Saurav, Sarek, Grzegorz, Vannier, Jean-Baptiste, Stracker, Travis, Schrader, Kasmintan A, Small, Trudy N, O'Reilly, Richard, Manschreck, Chris, Harlan Fleischut, Megan M, Zhang, Liying, Sullivan, John, Stratton, Kelly, Yeager, Meredith, Jacobs, Kevin, Giri, Neelam, Alter, Blanche P, Boland, Joseph, Burdett, Laurie, Offit, Kenneth, Boulton, Simon J, Savage, Sharon A, Petrini, John H J

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Procalcitonin Test in the Diagnosis of Bacteremia: A Meta-analysis von Jones, Alan E., MD, Fiechtl, James F., MD, Brown, Michael D., MD, Ballew, Jason J., MD, Kline, Jeffrey A., MD

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Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families von Mirabello, Lisa, Macari, Elizabeth R., Jessop, Lea, Ellis, Steven R., Myers, Timothy, Giri, Neelam, Taylor, Alison M., McGrath, Katherine E., Humphries, Jessica M., Ballew, Bari J., Yeager, Meredith, Boland, Joseph F., He, Ji, Hicks, Belynda D., Burdett, Laurie, Alter, Blanche P., Zon, Leonard, Savage, Sharon A.

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A Common Polymorphism in SCN5A is Associated with Lone Atrial Fibrillation von Chen, LY, Ballew, JD, Herron, KJ, Rodeheffer, RJ, Olson, TM

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Partnerships that Facilitate a Refugee's Journey to Wellbeing von Marano, Nina, Wojno, Abbey E, Stauffer, William M, Weinberg, Michelle, Klosovsky, Alexander, Ballew, J Daniel, Shetty, Sharmila, Cookson, Susan, Walker, Patricia, Cetron, Martin S

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Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology von Menon, SC, Michels, VV, Pellikka, PA, Ballew, JD, Karst, ML, Herron, KJ, Nelson, SM, Rodeheffer, RJ, Olson, TM

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Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up von Burris, Ashley M., DO, Ballew, Bari J., PhD, Kentosh, Joshua B., DO, Turner, Clesson E., MD, Norton, Scott A., MD, MPH, Giri, Neelam, MD, Alter, Blanche P., MD, MPH, Nellan, Anandani, MD, Gamper, Christopher, MD, PhD, Hartman, Kip R., MD, Savage, Sharon A., MD

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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes von McReynolds, Lisa J., Rafati, Maryam, Wang, Youjin, Ballew, Bari J., Kim, Jung, Williams, Valencia V., Zhou, Weiyin, Hendricks, Rachel M., Dagnall, Casey, Freedman, Neal D., Carter, Brian, Strollo, Sara, Hicks, Belynda, Zhu, Bin, Jones, Kristine, Paczesny, Sophie, Marsh, Steven G.E., Spellman, Stephen R., He, Meilun, Wang, Tao, Lee, Stephanie J., Savage, Sharon A., Gadalla, Shahinaz M.

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Novel FANCI mutations in Fanconi anemia with VACTERL association von Savage, Sharon A., Ballew, Bari J., Giri, Neelam, Chandrasekharappa, Settara C., Ameziane, Najim, de Winter, Johan, Alter, Blanche P.

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Multiple genetic pathways regulate replicative senescence in telomerase‐deficient yeast von Ballew, Bari J., Lundblad, Victoria

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First Report of Alternaria japonica , a Causal Agent of Black Spot, on Kale in South Carolina, U.S.A von Keinath, A. P., Toporek, S. M., DuBose, V. B., Zardus, S. H., Ballew, J. B.

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1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes von Brodie, Seth A, Rodriguez-Aulet, Jean Paul, Giri, Neelam, Dai, Jieqiong, Steinberg, Mia, Waterfall, Joshua J, Roberson, David, Ballew, Bari J, Zhou, Weiyin, Anzick, Sarah L, Jiang, Yuan, Wang, Yonghong, Zhu, Yuelin J, Meltzer, Paul S, Boland, Joseph, Alter, Blanche P, Savage, Sharon A

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Contribution of dopamine neurons in the medial zona incerta to the innervation of the central nucleus of the amygdala, horizontal diagonal band of Broca and hypothalamic paraventri... von Cheung, Sun, Ballew, Jennifer R., Moore, Kenneth E., Lookingland, Keith J.

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Corrigendum: 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius-like phenotypes von Brodie, Seth A, Rodriguez-Aulet, Jean Paul, Giri, Neelam, Dai, Jieqiong, Steinberg, Mia, J Waterfall, Joshua, Roberson, David, Ballew, Bari J, Zhou, Weiyin, Anzick, Sarah L, Jiang, Yuan, Wang, Yonghong, Zhu, Yuelin J, Meltzer, Paul S, Boland, Joseph, Alter, Blanche P, Savage, Sharon A

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Altered expression of glomerular heat shock protein 27 in experimental nephrotic syndrome von Smoyer, W E, Gupta, A, Mundel, P, Ballew, J D, Welsh, M J

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Sodium Channel Mutations and Susceptibility to Heart Failure and Atrial Fibrillation von Olson, Timothy M, Michels, Virginia V, Ballew, Jeffrey D, Reyna, Sandra P, Karst, Margaret L, Herron, Kathleen J, Horton, Steven C, Rodeheffer, Richard J, Anderson, Jeffrey L

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Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia von McReynolds, Lisa J., Wang, Youjin, Thompson, Ashley S., Ballew, Bari J., Kim, Jung, Alter, Blanche P., Hicks, Belynda, Zhu, Bin, Jones, Kristine, Spellman, Stephen R., Wang, Tao, Lee, Stephanie J., Savage, Sharon A., Gadalla, Shahinaz M.

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