Intra-oral extralingual ectomesenchymal chondromyxoid tumour involving the hard palate with molecular confirmation von Gokozan, Hamza N, Avenarius, Matthew R, Iwenofu, O Hans

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Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness von Carlton, Adam J., Halford, Julia, Underhill, Anna, Jeng, Jing‐Yi, Avenarius, Matthew R., Gilbert, Merle L., Ceriani, Federico, Ebisine, Kimimuepigha, Brown, Steve D. M., Bowl, Michael R., Barr‐Gillespie, Peter G., Marcotti, Walter

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Activation of the RAS pathway through uncommon BRAF mutations in mucinous pancreatic cysts without KRAS mutation von Ren, Rongqin, Krishna, Somashekar G., Chen, Wei, Frankel, Wendy L., Shen, Rulong, Zhao, Weiqiang, Avenarius, Matthew R., Garee, Jason, Caruthers, Sean, Jones, Dan

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Clinical SMN1 and SMN2 Gene-Specific Sequencing to Enhance the Clinical Sensitivity of Spinal Muscular Atrophy Diagnostic Testing von Miller, Cecelia R., Fang, Jin, Snyder, Pamela, Long, Susan E., Prior, Thomas W., Jones, Dan, Avenarius, Matthew R.

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Human Male Infertility Caused by Mutations in the CATSPER1 Channel Protein von Avenarius, Matthew R., Hildebrand, Michael S., Zhang, Yuzhou, Meyer, Nicole C., Smith, Luke L.H., Kahrizi, Kimia, Najmabadi, Hossein, Smith, Richard J.H.

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Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like von Ebrahim, Seham, Avenarius, Matthew R., Grati, M’hamed, Krey, Jocelyn F., Windsor, Alanna M., Sousa, Aurea D., Ballesteros, Angela, Cui, Runjia, Millis, Bryan A., Salles, Felipe T., Baird, Michelle A., Davidson, Michael W., Jones, Sherri M., Choi, Dongseok, Dong, Lijin, Raval, Manmeet H., Yengo, Christopher M., Barr-Gillespie, Peter G., Kachar, Bechara

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Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype von Ruhno, Corey, McGovern, Vicki L., Avenarius, Matthew R., Snyder, Pamela J., Prior, Thomas W., Nery, Flavia C., Muhtaseb, Abdurrahman, Roggenbuck, Jennifer S., Kissel, John T., Sansone, Valeria A., Siranosian, Jennifer J., Johnstone, Alec J., Nwe, Pann H., Zhang, Ren Z., Swoboda, Kathryn J., Burghes, Arthur H. M.

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Comparison of karyotype scoring guidelines for evaluating karyotype complexity in chronic lymphocytic leukemia von Avenarius, Matthew R., Huang, Ying, Kittai, Adam S., Bhat, Seema A., Rogers, Kerry A., Grever, Michael R., Woyach, Jennifer A., Miller, Cecelia R.

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EGFR internal tandem duplications in fusion‐negative congenital and neonatal spindle cell tumors von Koo, Selene C., Schieffer, Kathleen M., Lee, Kristy, Gupta, Ajay, Pfau, Ruthann B., Avenarius, Matthew R., Stonerock, Eileen, LaHaye, Stephanie, Fitch, James, Setty, Bhuvana A., Roberts, Ryan, Ranalli, Mark, Conces, Miriam R., Bu, Fang, Mardis, Elaine R., Cottrell, Catherine E.

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Heterodimeric capping protein is required for stereocilia length and width regulation von Avenarius, Matthew R, Krey, Jocelyn F, Dumont, Rachel A, Morgan, Clive P, Benson, Connor B, Vijayakumar, Sarath, Cunningham, Christopher L, Scheffer, Deborah I, Corey, David P, Müller, Ulrich, Jones, Sherri M, Barr-Gillespie, Peter G

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Grxcr2 is required for stereocilia morphogenesis in the cochlea von Avenarius, Matthew R, Jung, Jae-Yun, Askew, Charles, Jones, Sherri M, Hunker, Kristina L, Azaiez, Hela, Rehman, Atteeq U, Schraders, Margit, Najmabadi, Hossein, Kremer, Hannie, Smith, Richard J H, Géléoc, Gwenaëlle S G, Dolan, David F, Raphael, Yehoash, Kohrman, David C

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The clinical utility of a risk‐modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity von Ware, Gardenier, Miller, Cecelia, Jones, Dan, Avenarius, Matthew

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Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing von Avenarius, Matthew R., Miller, Cecelia R., Arnold, Michael A., Koo, Selene, Roberts, Ryan, Hobby, Martin, Grossman, Thomas, Moyer, Yvonne, Wilson, Richard K., Mardis, Elaine R., Gastier-Foster, Julie M., Pfau, Ruthann B.

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Genetic male infertility and mutation of CATSPER ion channels von HILDEBRAND, Michael S, AVENARIUS, Matthew R, SMITH, Richard Jh, FELLOUS, Marc, YUZHOU ZHANG, MEYER, Nicole C, AUER, Jana, SERRES, Catherine, KAHRIZI, Kimia, NAJMABADI, Hossein, BECKMANN, Jacques S

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Refining prognosis in chronic lymphocytic leukemia with normal Fluorescence in situ hybridization results von Avenarius, Matthew R, Huang, Ying, Hyak, Jonathan, Byrd, John C, Bhat, Seema A, Grever, Michael, Kittai, Adam S, Rogers, Kerry A, Jones, Dan, Zhao, Weiqiang, Heerema, Nyla A, Abruzzo, Lynne V, Woyach, Jennifer, Miller, Cecelia R

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FGFR2-fusions define a clinically actionable molecular subset of pancreatic cancer von Stein, Leah, Murugesan, Karthikeyan, Reeser, Julie W., Risch, Zachary, Wing, Michele R., Paruchuri, Anoosha, Samorodnitsky, Eric, Hoskins, Emily L., Dao, Thuy, Smith, Amy, Le, Dat, Babcook, Melissa A., Chang, Yi Seok, Avenarius, Matthew R., Imam, Muhammad, Freud, Aharon G., Roychowdhury, Sameek

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P423: SMN1 SMN2 gene-specific sequencing enhances the clinical sensitivity of spinal muscular atrophy diagnostic testing von Avenarius, Matthew, Fang, Jin, Snyder, Pamela, Prior, Thomas, Jones, Dan, Miller, Cecelia

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Improved biolistic transfection of hair cells von Zhao, Hongyu, Avenarius, Matthew R, Gillespie, Peter G

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Characteristics and outcomes of patients with CLL and CDKN2A/B deletion by fluorescence in situ hybridization von Teierle, Samantha M, Huang, Ying, Kittai, Adam S, Bhat, Seema A, Grever, Michael, Rogers, Kerry A, Zhao, Weiqiang, Jones, Daniel, Byrd, John C, Avenarius, Matthew R, Heerema, Nyla A, Woyach, Jennifer A, Miller, Cecelia R

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Correlation of Actin Crosslinker and Capper Expression Levels with Stereocilia Growth Phases von Avenarius, Matthew R., Saylor, Katherine W., Lundeberg, Megan R., Wilmarth, Phillip A., Shin, Jung-Bum, Spinelli, Kateri J., Pagana, James M., Andrade, Leonardo, Kachar, Bechara, Choi, Dongseok, David, Larry L., Barr-Gillespie, Peter G.

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