Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss von Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Murry, Jaclyn B., Hasadsri, Linda, Nara, Kiyomitsu, Kenna, Margaret, Booth, Kevin T., Azaiez, Hela, Griffith, Andrew, Avraham, Karen B., Kremer, Hannie, Rehm, Heidi L., Amr, Sami S., Abou Tayoun, Ahmad N.

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Renal coloboma syndrome von SCHIMMENTI, Lisa A

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A Neonate With a Rash von Kazemi-Butterfield, Nazanin, Asamoah, Eucabeth M, Little, Jason T, Schimmenti, Lisa A, Scruggs, Brittni A, Ristagno, Elizabeth H

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New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells von Beurg, Maryline, Schimmenti, Lisa A., Koleilat, Alaa, Amr, Sami S., Oza, Andrea, Barlow, Amanda J., Ballesteros, Angela, Fettiplace, Robert

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Next Generation Sequencing of Sporadic Vestibular Schwannoma: Necessity of Biallelic NF2 Inactivation and Implications of Accessory Non-NF2 Variants von Carlson, Matthew L, Smadbeck, James B, Link, Michael J, Klee, Eric W, Vasmatzis, George, Schimmenti, Lisa A

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Vital Dye Uptake of YO-PRO-1 and DASPEI Depends Upon Mechanoelectrical Transduction Function in Zebrafish Hair Cells von Patterson, Ashley Scott, Dugdale, Joseph, Koleilat, Alaa, Krauss, Anna, Hernandez-Herrera, Gabriel A, Wallace, Jasmine G, Petree, Cassidy, Varshney, Gaurav K, Schimmenti, Lisa A

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3q21 deletion affects GATA2 and is associated with myelodysplastic syndrome von Greenmyer, Jacob R., Thompson, Whitney S., Hoppman, Nicole L., Khan, Shakila, Patnaik, Mrinal S., Schimmenti, Lisa A., Kohorst, Mira A.

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Zebrafish and the Cancer Moonshot von Schimmenti, Lisa A.

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Expanding the phenotype of DNAJC30‐associated Leigh syndrome von Zawadzka, Marta, Krygier, Magdalena, Pawłowicz, Małgorzata, Wilke, Matheus Vernet Machado Bressan, Rutkowska, Karolina, Gueguen, Naig, Desquiret‐Dumas, Valerie, Klee, Eric W., Schimmenti, Lisa A., Sławek, Jarosław, Procaccio, Vincent, Płoski, Rafał, Mazurkiewicz‐Bełdzińska, Maria

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431 Evaluating defective Transcription Coupled-Nucleotide Excision Repair as a mechanism for sensorineural hearing loss in a zebrafish model of Cockayne Syndrome von Hernandez-Herrera, Gabriel, Dugdale, Joseph, Schimmenti, Lisa A., Clark, Karl, Cotter, Ryan

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Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld‐Rieger Syndrome von Farris, Joseph, Khanna, Cheryl, Smadbeck, James B., Johnson, Sarah H., Bothun, Erick, Kaplan, Tyler, Hoffman, Francis, Polonis, Katarzyna, Oliver, Gavin, Reis, Linda M., Semina, Elena V., Rust, Laura, Hoppman, Nicole L., Vasmatzis, George, Marcou, Cherisse A., Schimmenti, Lisa A., Klee, Eric W.

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Keep Swimming Toward Precision Medicine Discoveries von Schimmenti, Lisa A.

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A Primer for Morpholino Use in Zebrafish von Bill, Brent R., Petzold, Andrew M., Clark, Karl J., Schimmenti, Lisa A., Ekker, Stephen C.

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PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation von Han, Sangwoo T., Kim, Andrew C., Garcia, Karolyn, Schimmenti, Lisa A., Macnamara, Ellen, Network, Undiagnosed Diseases, Gahl, William A., Malicdan, May C., Tifft, Cynthia J.

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L-type voltage-gated calcium channel agonists mitigate hearing loss and modify ribbon synapse morphology in the zebrafish model of Usher syndrome type 1 von Koleilat, Alaa, Dugdale, Joseph A., Christenson, Trace A., Bellah, Jeffrey L., Lambert, Aaron M., Masino, Mark A., Ekker, Stephen C., Schimmenti, Lisa A.

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Aminoglycoside induced ototoxicity risk in the cystic fibrosis population: The utility of large‐scale screening von Lopes, Jaime, Vidal‐Folch, Noemi, Lundquist, Patrick, Schimmenti, Lisa A., Demirel, Nadir, Dean, Vicki, Olson, Janelle, Auth, Tom, Butz, Malinda, Reed, Katelyn, Wylam, Mark, Balcom, Jessica, Boczek, Nicole J., Hasadsri, Linda

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P496: The importance of mitochondrial disease testing in young adults with new onset sensorineural hearing loss von Koleilat, Alaa, Poling, Gayla, Schimmenti, Lisa, Hasadsri, Linda

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P459: Exome sequencing analysis reveals enrichment of variants in known autosomal dominant hearing loss genes in patients with presbycusis von Farrugia, Stefan, Olson, Rory, Klee, Eric, Schimmenti, Lisa

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Correction: Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations von Vanbelleghem, Eva, Van Damme, Tim, Beyens, Aude, Symoens, Sofie, Claes, Kathleen, De Backer, Julie, Meerschaut, Ilse, Vanommeslaeghe, Floris, Delanghe, Sigurd E, van den Ende, Jenneke, Beyltjens, Tessi, Scimone, Eleanor R, Lindsay, Mark E, Schimmenti, Lisa A, Hinze, Alicia M, Dunn, Emily, Gomez-Ospina, Natalia, Vandernoot, Isabelle, Delguste, Thomas, Coppens, Sandra, Cormier-Daire, Valérie, Tartaglia, Marco, Garavelli, Livia, Shieh, Joseph, Demir, Şenol, Arslan Ateş, Esra, Zenker, Martin, Rohanizadegan, Mersedeh, Rivera-Cruz, Greysha, Douzgou, Sofia, Lin, Angela E, Callewaert, Bert

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Hypopharyngeal Squamous Cell Carcinoma in Sisters with LMNA Associated Familial Partial Lipodystrophy: A Case Report and Review of the Literature von Youssef, Stephanie J., Macielak, Robert J., Schimmenti, Lisa A., Chatzopoulos, Kyriakos, Price, Daniel L.

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