P16.07 Individual task specific testing associated with intra-operative MRI during awake craniotomy surgery for low grade gliomas to improve extent of resection and minimize morbid... von Gripp, D. A., Aguiar, P. H. P., Maldaun, M. V. C., Mathias, L. R., Verst, S. M., Docema, M.

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Endoscopic assisted microneurosurgery for gasserian portion of trigeminal neuroma: two cases von Faleiro, Luiz Carlos Mendes, Faleiro, Rodrigo Moreira, Barroso, Luiz Fernando Vilar, Gripp, Daniel Andrade

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Vibration and noise control using shunted piezoelectric transducers: A review von Gripp, J.A.B., Rade, D.A.

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ClinGen’s RASopathy Expert Panel consensus methods for variant interpretation von Gelb, Bruce D, Cavé, Hélène, Dillon, Mitchell W, Gripp, Karen W, Lee, Jennifer A, Mason-Suares, Heather, Rauen, Katherine A, Williams, Bradley, Zenker, Martin, Vincent, Lisa M

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Costello syndrome: Clinical phenotype, genotype, and management guidelines von Gripp, Karen W., Morse, Lindsey A., Axelrad, Marni, Chatfield, Kathryn C., Chidekel, Aaron, Dobyns, William, Doyle, Daniel, Kerr, Bronwyn, Lin, Angela E., Schwartz, David D., Sibbles, Barbara J., Siegel, Dawn, Shankar, Suma P., Stevenson, David A., Thacker, Mihir M., Weaver, K. Nicole, White, Sue M., Rauen, Katherine A.

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Aircraft visual inspection: A systematic literature review von Yasuda, Yuri D.V., Cappabianco, Fabio A.M., Martins, Luiz Eduardo G., Gripp, Jorge A.B.

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Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis von Khajuria, Rajiv K., Munschauer, Mathias, Ulirsch, Jacob C., Fiorini, Claudia, Ludwig, Leif S., McFarland, Sean K., Abdulhay, Nour J., Specht, Harrison, Keshishian, Hasmik, Mani, D.R., Jovanovic, Marko, Ellis, Steven R., Fulco, Charles P., Engreitz, Jesse M., Schütz, Sabina, Lian, John, Gripp, Karen W., Weinberg, Olga K., Pinkus, Geraldine S., Gehrke, Lee, Regev, Aviv, Lander, Eric S., Gazda, Hanna T., Lee, Winston Y., Panse, Vikram G., Carr, Steven A., Sankaran, Vijay G.

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Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome von Gripp, Karen W., Robbins, Katherine M., Sobreira, Nara L., Witmer, P. Dane, Bird, Lynne M., Avela, Kristiina, Makitie, Outi, Alves, Daniela, Hogue, Jacob S., Zackai, Elaine H., Doheny, Kimberly F., Stabley, Deborah L., Sol-Church, Katia

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Assessing the gene–disease association of 19 genes with the RASopathies using the ClinGen gene curation framework von Grant, Andrew R., Cushman, Brandon J., Cavé, Hélène, Dillon, Mitchell W., Gelb, Bruce D., Gripp, Karen W., Lee, Jennifer A., Mason‐Suares, Heather, Rauen, Katherine A., Tartaglia, Marco, Vincent, Lisa M., Zenker, Martin

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A dyadic approach to the delineation of diagnostic entities in clinical genomics von Biesecker, Leslie G., Adam, Margaret P., Alkuraya, Fowzan S., Amemiya, Anne R., Bamshad, Michael J., Beck, Anita E., Bennett, James T., Bird, Lynne M., Carey, John C., Chung, Brian, Clark, Robin D., Cox, Timothy C., Curry, Cynthia, Dinulos, Mary Beth Palko, Dobyns, William B., Giampietro, Philip F., Girisha, Katta M., Glass, Ian A., Graham, John M., Gripp, Karen W., Haldeman-Englert, Chad R., Hall, Bryan D., Innes, A. Micheil, Kalish, Jennifer M., Keppler-Noreuil, Kim M., Kosaki, Kenjiro, Kozel, Beth A., Mirzaa, Ghayda M., Mulvihill, John J., Nowaczyk, Malgorzata J.M., Pagon, Roberta A., Retterer, Kyle, Rope, Alan F., Sanchez-Lara, Pedro A., Seaver, Laurie H., Shieh, Joseph T., Slavotinek, Anne M., Sobering, Andrew K., Stevens, Cathy A., Stevenson, David A., Tan, Tiong Yang, Tan, Wen-Hann, Tsai, Anne C., Weaver, David D., Williams, Marc S., Zackai, Elaine, Zarate, Yuri A.

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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype von Koenighofer, M., Hung, C. Y., McCauley, J. L., Dallman, J., Back, E. J., Mihalek, I., Gripp, K. W., Sol-Church, K., Rusconi, P., Zhang, Z., Shi, G-X., Andres, D. A., Bodamer, O. A.

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Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failure von Mulchandani, Surabhi, Bhoj, Elizabeth J., Luo, Minjie, Powell-Hamilton, Nina, Jenny, Kim, Gripp, Karen W., Elbracht, Miriam, Eggermann, Thomas, Turner, Claire L.S., Temple, I. Karen, Mackay, Deborah J.G., Dubbs, Holly, Stevenson, David A., Slattery, Leah, Zackai, Elaine H., Spinner, Nancy B., Krantz, Ian D., Conlin, Laura K.

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Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone‐mediated tubulinopathy von Pode‐Shakked, B., Barash, H., Ziv, L., Gripp, K.W., Flex, E., Barel, O., Carvalho, K.S., Scavina, M., Chillemi, G., Niceta, M., Eyal, E., Kol, N., Ben‐Zeev, B., Bar‐Yosef, O., Marek‐Yagel, D., Bertini, E., Duker, A.L., Anikster, Y., Tartaglia, M., Raas‐Rothschild, A.

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature von Johnstone, Devon L., Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Kernohan, Kristin D., St‐Denis, Anik, Baratang, Nissan V., Hartley, Taila, Geraghty, Michael T., Richer, Julie, Majewski, Jacek, Bareke, Eric, Guerin, Andrea, Pendziwiat, Manuela, Pena, Loren D. M., Braakman, Hilde M. H., Gripp, Karen W., Edmondson, Andrew C., He, Miao, Spillmann, Rebecca C., Eklund, Erik A., Bayat, Allan, McMillan, Hugh J., Boycott, Kym M., Campeau, Philippe M.

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Current recommendations for management of paediatric diabetic ketoacidosis von Gripp, Karen E, Trottier, Evelyne D, Thakore, Sidd, Sniderman, Jonathan, Lawrence, Sarah

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Leukocytosis, muscle damage and increased lymphocyte proliferative response after an adventure sprint race von Tossige-Gomes, R, Ottone, V O, Oliveira, P N, Viana, D J S, Araújo, T L, Gripp, F J, Rocha-Vieira, E

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Microbial Translocation Induces an Intense Proinflammatory Response in Patients With Visceral Leishmaniasis and HIV Type 1 Coinfection von Santos-Oliveira, Joanna R., Regis, Eduardo G., Giacoia-Gripp, Carmem B. W., Valverde, Joanna G., Alexandrino-de-Oliveira, Priscilla, Lindoso, Jose Ângelo L., Goto, Hiro, Oliveira-Neto, Manoel P., Guerra, Jorge O., Grinsztejn, Beatriz, Jerônimo, Selma B., Morgado, Mariza G., Da-Cruz, Alda M.

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The Contribution of Conservation Practices in Reducing Runoff, Soil Loss, and Transport of Nutrients at the Watershed Level von Rocha, Everton Oliveira, Calijuri, Maria Lúcia, Santiago, Aníbal Fonseca, de Assis, Leonardo Campos, Alves, Luna Gripp Simões

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Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin von Izumi, Kosuke, Nakato, Ryuichiro, Zhang, Zhe, Edmondson, Andrew C, Noon, Sarah, Dulik, Matthew C, Rajagopalan, Ramakrishnan, Venditti, Charles P, Gripp, Karen, Samanich, Joy, Zackai, Elaine H, Deardorff, Matthew A, Clark, Dinah, Allen, Julian L, Dorsett, Dale, Misulovin, Ziva, Komata, Makiko, Bando, Masashige, Kaur, Maninder, Katou, Yuki, Shirahige, Katsuhiko, Krantz, Ian D

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Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly von Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham, Jr, John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark, Mirzaa, Ghayda M

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