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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Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson’s disease von Liu, Ganqiang, Peng, Jiajie, Liao, Zhixiang, Locascio, Joseph J., Corvol, Jean-Christophe, Zhu, Frank, Dong, Xianjun, Maple-Grødem, Jodi, Campbell, Meghan C., Elbaz, Alexis, Lesage, Suzanne, Brice, Alexis, Mangone, Graziella, Growdon, John H., Hung, Albert Y., Schwarzschild, Michael A., Hayes, Michael T., Wills, Anne-Marie, Herrington, Todd M., Ravina, Bernard, Shoulson, Ira, Taba, Pille, Kõks, Sulev, Beach, Thomas G., Cormier-Dequaire, Florence, Alves, Guido, Tysnes, Ole-Bjørn, Perlmutter, Joel S., Heutink, Peter, Amr, Sami S., van Hilten, Jacobus J., Kasten, Meike, Mollenhauer, Brit, Trenkwalder, Claudia, Klein, Christine, Barker, Roger A., Williams-Gray, Caroline H., Marinus, Johan, Scherzer, Clemens R.

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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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MiRNA expression profiling reveals a potential role of microRNA-148b-3p in cerebral vasospasm in subarachnoid hemorrhage von Ryu, Jee-Yeon, Zhang, Jianing, Tirado, Selena-Rae, Dagen, Sarajune, Frerichs, Kai U., Patel, Nirav J., Aziz-Sultan, M. Ali, Brown, Alison, Rogers-Grazado, Maximilian, Amr, Sami S., Weiss, Scott T., Du, Rose

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A proposal for comprehensive newborn hearing screening to improve identification of deaf and hard-of-hearing children von Shearer, A. Eliot, Shen, Jun, Amr, Sami, Morton, Cynthia C., Smith, Richard J.

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COMPSRA: a COMprehensive Platform for Small RNA-Seq data Analysis von Li, Jiang, Kho, Alvin T., Chase, Robert P., Pantano, Lorena, Farnam, Leanna, Amr, Sami S., Tantisira, Kelan G.

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HIV Integration Site Analysis of Cellular Models of HIV Latency with a Probe-Enriched Next-Generation Sequencing Assay von Sunshine, Sara, Kirchner, Rory, Amr, Sami S, Mansur, Leandra, Shakhbatyan, Rimma, Kim, Michelle, Bosque, Alberto, Siliciano, Robert F, Planelles, Vicente, Hofmann, Oliver, Ho Sui, Shannan, Li, Jonathan Z

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Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Usi... von Amr, Sami S, Murphy, Elissa, Duffy, Elizabeth, Niazi, Rojeen, Balciuniene, Jorune, Luo, Minjie, Rehm, Heidi L, Abou Tayoun, Ahmad N

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Recurrent variants in OTOF are significant contributors to prelingual nonsydromic hearing loss in Saudi patients von Almontashiri, Naif A M, Alswaid, Abdulrahman, Oza, Andrea, Al-Mazrou, Khalid A, Elrehim, Omnia, Tayoun, Ahmad Abou, Rehm, Heidi L, Amr, Sami S

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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel von Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Wai Choy, Kwong, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Abou Tayoun, Ahmad N.

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Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders von Andersen, Rebecca E., Alkuraya, Ibrahim F., Ajeesh, Abna, Sakamoto, Tyler, Mena, Elijah L., Amr, Sami S., Romi, Hila, Kenna, Margaret A., Robson, Caroline D., Wilch, Ellen S., Nalbandian, Katarena, Piña-Aguilar, Raul, Walsh, Christopher A., Morton, Cynthia C.

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ME2 Deficiency Is Associated With Recessive Neurodevelopmental Disorder von Almontashiri, Naif A M, Alharby, Essa, Saleh, Mohammed, Abu-Farha, Mohamed, Alasmari, Ali, Gebbia, Marinella, Hiesl, Charlotte, Peake, Roy W A, Amr, Sami Samir, Boles, Eckhard, Roth, Frederick P, Abubaker, Jehad

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Automated Pharmacogenomic Reports for Clinical Genome Sequencing von Klanderman, Barbara J., Koch, Christopher, Machini, Kalotina, Parpattedar, Shruti S., Bandyadka, Shruthi, Lin, Chiao-Feng, Hynes, Elizabeth, Lebo, Matthew S., Amr, Sami S.

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VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data von Pugh, Trevor J., Amr, Sami S., Bowser, Mark J., Gowrisankar, Sivakumar, Hynes, Elizabeth, Mahanta, Lisa M., Rehm, Heidi L., Funke, Birgit, Lebo, Matthew S.

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The eMERGE genotype set of 83,717 subjects imputed to ~40 million variants genome wide and association with the herpes zoster medical record phenotype von Stanaway, Ian B., Hall, Taryn O., Rosenthal, Elisabeth A., Palmer, Melody, Naranbhai, Vivek, Knevel, Rachel, Namjou‐Khales, Bahram, Carroll, Robert J., Kiryluk, Krzysztof, Gordon, Adam S., Linder, Jodell, Howell, Kayla Marie, Mapes, Brandy M., Lin, Frederick T.J., Joo, Yoonjung Yoonie, Hayes, M. Geoffrey, Gharavi, Ali G., Pendergrass, Sarah A., Ritchie, Marylyn D., Andrade, Mariza, Croteau‐Chonka, Damien C., Raychaudhuri, Soumya, Weiss, Scott T., Lebo, Matt, Amr, Sami S., Carrell, David, Larson, Eric B., Chute, Christopher G., Rasmussen‐Torvik, Laura Jarmila, Roy‐Puckelwartz, Megan J., Sleiman, Patrick, Hakonarson, Hakon, Li, Rongling, Karlson, Elizabeth W., Peterson, Josh F., Kullo, Iftikhar J., Chisholm, Rex, Denny, Joshua Charles, Jarvik, Gail P., Crosslin, David R.

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Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults Accordi... von Patel, Aniruddh P., Wang, Minxian, Fahed, Akl C., Mason-Suares, Heather, Brockman, Deanna, Pelletier, Renee, Amr, Sami, Machini, Kalotina, Hawley, Megan, Witkowski, Leora, Koch, Christopher, Philippakis, Anthony, Cassa, Christopher A., Ellinor, Patrick T., Kathiresan, Sekar, Ng, Kenney, Lebo, Matthew, Khera, Amit

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Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation von Abou Tayoun, Ahmad N., Al Turki, Saeed H., Oza, Andrea M., Bowser, Mark J., Hernandez, Amy L., Funke, Birgit H., Rehm, Heidi L., Amr, Sami S.

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Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients von Laurent, Sacha, Gehrig, Corinne, Nouspikel, Thierry, Amr, Sami S., Oza, Andrea, Murphy, Elissa, Vannier, Anne, Béna, Frédérique Sloan, Carminho‐Rodrigues, Maria Teresa, Blouin, Jean‐Louis, Cao Van, Hélène, Abramowicz, Marc, Paoloni‐Giacobino, Ariane, Guipponi, Michel

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Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss von Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou

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Mitochondrial gene sequence variants in children with severe malaria anaemia with or without lactic acidosis: a case control study von Fowler, Casey, Cserti-Gazdewich, Christine, Dhabangi, Aggrey, Musoke, Charles, Sharma, Himanshu, Amr, Sami S, Dzik, Walter

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