A genomic mutational constraint map using variation in 76,156 human genomes von Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O’Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J.

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A systematic approach to assessing the clinical significance of genetic variants von Duzkale, H, Shen, J, McLaughlin, H, Alfares, A, Kelly, MA, Pugh, TJ, Funke, BH, Rehm, HL, Lebo, MS

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A framework for automated gene selection in genomic applications von Lazo de la Vega, L., Yu, W., Machini, K., Austin-Tse, C.A., Hao, L., Blout Zawatsky, C.L., Mason-Suares, H., Green, R.C., Rehm, H.L., Lebo, M.S.

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TRPA1 is a candidate for the mechanosensitive transduction channel of vertebrate hair cells von Corey, David P, García-Añoveros, Jaime, Holt, Jeffrey R, Kwan, Kelvin Y, Lin, Shuh-Yow, Vollrath, Melissa A, Amalfitano, Andrea, Cheung, Eunice L.-M, Derfler, Bruce H, Duggan, Anne, Géléoc, Gwénaëlle S. G, Gray, Paul A, Hoffman, Matthew P, Rehm, Heidi L, Tamasauskas, Daniel, Zhang, Duan-Sun

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Toward robust clinical genome interpretation: developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and d... von Roberts, AM, DiStefano, MT, Riggs, ER, Josephs, KS, Alkuraya, FS, Amberger, J, Amin, M, Berg, JS, Cunningham, F, Eilbeck, K, Firth, HV, Foreman, J, Hamosh, A, Hay, E, Leigh, S, Martin, CL, McDonagh, EM, Perrett, D, Ramos, EM, Robinson, PN, Rath, A, Sant, DW, Stark, Z, Whiffin, N, Rehm, HL, Ware, JS

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GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study von Snoeckx, Rikkert L., Huygen, Patrick L.M., Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Waligora, Jaroslaw, Mueller-Malesinska, Malgorzata, Pollak, Agneszka, Ploski, Rafal, Murgia, Alessandra, Orzan, Eva, Castorina, Pierangela, Ambrosetti, Umberto, Nowakowska-Szyrwinska, Ewa, Bal, Jerzy, Wiszniewski, Wojciech, Janecke, Andreas R., Nekahm-Heis, Doris, Seeman, Pavel, Bendova, Olga, Kenna, Margaret A., Frangulov, Anna, Rehm, Heidi L., Tekin, Mustafa, Incesulu, Armagan, Dahl, Hans-Henrik M., du Sart, Desirée, Jenkins, Lucy, Lucas, Deirdre, Bitner-Glindzicz, Maria, Avraham, Karen B., Brownstein, Zippora, del Castillo, Ignacio, Moreno, Felipe, Blin, Nikolaus, Pfister, Markus, Sziklai, Istvan, Toth, Timea, Kelley, Philip M., Cohn, Edward S., Van Maldergem, Lionel, Hilbert, Pascale, Roux, Anne-Françoise, Mondain, Michel, Hoefsloot, Lies H., Cremers, Cor W.R.J., Löppönen, Tuija, Löppönen, Heikki, Parving, Agnete, Gronskov, Karen, Schrijver, Iris, Roberson, Joseph, Gualandi, Francesca, Martini, Alessandro, Lina-Granade, Geneviève, Pallares-Ruiz, Nathalie, Correia, Céu, Fialho, Graça, Cryns, Kim, Hilgert, Nele, Van de Heyning, Paul, Nishimura, Carla J., Smith, Richard J.H., Van Camp, Guy

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The Gene Curation Coalition: a global effort to harmonize gene-disease evidence resources von DiStefano, MT, Goehringer, S, Babb, L, Alkuraya, FS, Amberger, J, Amin, M, Austin-Tse, C, Balzotti, M, Berg, JS, Birney, E, Bocchini, C, Bruford, EA, Coffey, AJ, Collins, H, Cunningham, F, Daugherty, LC, Einhorn, Y, Firth, HV, Fitzpatrick, DR, Foulger, RE, Goldstein, J, Hamosh, A, Hurles, MR, Leigh, SE, Leong, IUS, Maddirevula, S, Martin, CL, McDonagh, EM, Olry, A, Puzriakova, A, Radtke, K, Ramos, EM, Rath, A, Riggs, ER, Roberts, AM, Rodwell, C, Snow, C, Stark, Z, Tahiliani, J, Tweedie, S, Ware, JS, Weller, P, Williams, E, Wright, CF, Yates, TM, Rehm, HL

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Mutation of a Gene Encoding a Protein with Extracellular Matrix Motifs in Usher Syndrome Type IIa von Eudy, James D., Weston, Michael D., Yao, SuFang, Hoover, Denise M., Rehm, Heidi L., Ma-Edmonds, Manling, Yan, Denise, Ahmad, Iqbal, Cheng, Jason J., Ayuso, Carmen, Cremers, Cor, Davenport, Sandra, Moller, Claes, Talmadge, Catherine B., Beisel, Kirk W., Tamayo, Marta, Morton, Cynthia C., Swaroop, Anand, Kimberling, William J., Sumegi, Janos

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Vascular Defects and Sensorineural Deafness in a Mouse Model of Norrie Disease von Rehm, Heidi L, Zhang, Duan-Sun, Brown, M. Christian, Burgess, Barbara, Halpin, Chris, Berger, Wolfgang, Morton, Cynthia C, Corey, David P, Chen, Zheng-Yi

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SHORT-TERM COSTS OF WHOLE GENOME SEQUENCING IN CARDIOLOGY AND PRIMARY CARE: FINDINGS FROM THE MEDSEQ PROJECT von Christensen, KD, Vassy, JL, Phillips, KA, Blout, CL, Azzariti, DR, Lu, CY, Robinson, JO, Lee, KB, Douglas, MP, Yeh, JM, Machini, K, Rehm, HL, McGuire, AL, Green, RC, Dukhovny, D

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Genetics and the Genome Project von Rehm, Heidi L

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Audiologic Features of Norrie Disease von Halpin, Chris, Owen, Grace, Gutiérrez-Espeleta, Gustavo A., Sims, Katherine, Rehm, Heidi L.

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Diagnoses of uncertain significance: kidney genetics in the 21st century von Gale, D, Mallett, A, Patel, C, Sneddon, TP, Rehm, HL, Sampson, MG, Bockenhauer, D

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The PTPN11 gene is not implicated in nonsyndromic hypertrophic cardiomyopathy von Roberts, Amy E., Hult, Britta, Rehm, Heidi L., Rehm, Heidi L., McDonough, Barbara, Barr, Scott, Seidman, Christine E., Seidman, J.G., Kucherlapati, Raju S.

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Glossary for Hereditary Hearing Impairment von Pfister, Markus H. F, Rehm, Heidi L

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A new age in the genetics of deafness von Rehm, H L, Morton, C C

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Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly von Chai, G, Webb, A, Li, C, Antaki, D, Lee, S, Breuss, MW, Lang, N, Stanley, V, Anzenberg, P, Yang, X, Marshall, T, Gaffney, P, Wierenga, KJ, Chung, BH-Y, Tsang, MH-Y, Pais, LS, Lovgren, AK, VanNoy, GE, Rehm, HL, Mirzaa, G, Leon, E, Diaz, J, Neumann, A, Kalverda, AP, Manfield, IW, Parry, DA, Logan, CV, Johnson, CA, Bonthron, DT, Valleley, EMA, Issa, MY, Abdel-Ghafar, SF, Abdel-Hamid, MS, Jennings, P, Zaki, MS, Sheridan, E, Gleeson, JG

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Early childhood hearing loss: clinical and molecular genetics. An educational slide set of the American College of Medical Genetics von Alford, Raye L, Friedman, Thomas B, Keats, Bronya J B, Kimberling, William J, Proud, Virginia K, Smith, Richard J H, Arnos, Kathleen S, Korf, Bruce R, Rehm, Heidi L, Toriello, Helga V

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Norrie disease gene mutation in a large Costa Rican kindred with a novel phenotype including venous insufficiency von Rehm, Heidi L., Gutiérrez-Espeleta, Gustavo A., Garcia, Rafael, Jiménez, Gerardo, Khetarpal, Umang, Priest, Janice M., Sims, Katherine B., Keats, Bronya J. B., Morton, Cynthia C.

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Coordinate synthesis and turnover of heat shock proteins in Borrelia burgdorferi: degradation of DnaK during recovery from heat shock von CLUSS, R. G, GOEL, A. S, REHM, H. L, SCHOENECKER, J. G, BOOTHBY, J. T, O'BRIEN, A

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