ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) von Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genet... von Kalia, Sarah S., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Eng, Christine, Evans, James P., Herman, Gail E., Hufnagel, Sophia B., Klein, Teri E., Korf, Bruce R., McKelvey, Kent D., Ormond, Kelly E., Richards, C. Sue, Vlangos, Christopher N., Watson, Michael, Martin, Christa L., Miller, David T.

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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomic... von Miller, David T., Lee, Kristy, Gordon, Adam S., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Chung, Wendy K., Gollob, Michael H., Harrison, Steven M., Herman, Gail E., Hershberger, Ray E., Klein, Teri E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Stewart, Douglas R., Watson, Michael S., Martin, Christa Lese

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ACMG clinical laboratory standards for next-generation sequencing von Rehm, Heidi L., Bale, Sherri J., Bayrak-Toydemir, Pinar, Berg, Jonathan S., Brown, Kerry K., Deignan, Joshua L., Friez, Michael J., Funke, Birgit H., Hegde, Madhuri R., Lyon, Elaine

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Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris von McLean, W H Irwin, Smith, Frances J D, Irvine, Alan D, Terron-Kwiatkowski, Ana, Sandilands, Aileen, Campbell, Linda E, Zhao, Yiwei, Liao, Haihui, Evans, Alan T, Goudie, David R, Lewis-Jones, Sue, Arseculeratne, Gehan, Munro, Colin S, Sergeant, Ann, O'Regan, Gráinne, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Presland, Richard B, Fleckman, Philip

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Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita von Leachman, Sancy A, Hickerson, Robyn P, Hull, Peter R, Smith, Frances J.D, Milstone, Leonard M, Lane, E. Birgitte, Bale, Sherri J, Roop, Dennis R, McLean, W.H. Irwin, Kaspar, Roger L

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Correction to: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Gen... von Miller, David T., Lee, Kristy, Chung, Wendy K., Gordon, Adam S., Herman, Gail E., Klein, Teri E., Stewart, Douglas R., Amendola, Laura M., Adelman, Kathy, Bale, Sherri J., Gollob, Michael H., Harrison, Steven M., Hershberger, Ray E., McKelvey, Kent, Richards, C. Sue, Vlangos, Christopher N., Watson, Michael S., Martin, Christa Lese

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Findings from the Peutz-Jeghers syndrome registry of uruguay von Tchekmedyian, Asadur, Amos, Christopher I, Bale, Sherri J, Zhu, Dakai, Arold, Stefan, Berrueta, Joaquin, Nabon, Natalie, McGarrity, Thomas

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Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1 von Herman, Matthew L, Farasat, Sharifeh, Steinbach, Peter J, Wei, Ming-Hui, Toure, Ousmane, Fleckman, Philip, Blake, Patrick, Bale, Sherri J, Toro, Jorge R

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Missense Mutations in GJB2 Encoding Connexin-26 Cause the Ectodermal Dysplasia Keratitis-Ichthyosis-Deafness Syndrome von Richard, Gabriele, Rouan, Fatima, Willoughby, Colin E., Brown, Nkecha, Chung, Pil, Ryynänen, Markku, Jabs, Ethylin Wang, Bale, Sherri J., DiGiovanna, John J., Uitto, Jouni, Russell, Laura

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Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations von Rauen, Katherine A., Tidyman, William E., Estep, Anne L., Sampath, Srirangan, Peltier, Henry M., Bale, Sherri J., Lacassie, Yves

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico von Gahl, William A, Anikster, Yair, Huizing, Marjan, White, James, Shevchenko, Yuriy O, Fitzpatrick, Diana L, Touchman, Jeffrey W, Compton, John G, Bale, Sherri J, Swank, Richard T, Toro, Jorge R

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Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis von Richard, Gabriele, Bale, Sherri J, Smith, Lisa E, Bailey, Regina A, Itin, Peter, Hohl, Daniel, Epstein, Ervin H, DiGiovanna, John J, Compton, John G

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Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis von McLean, W H Irwin, Palmer, Colin N A, Irvine, Alan D, Terron-Kwiatkowski, Ana, Zhao, Yiwei, Liao, Haihui, Lee, Simon P, Goudie, David R, Sandilands, Aileen, Campbell, Linda E, Smith, Frances J D, O'Regan, Gráinne M, Watson, Rosemarie M, Cecil, Jo E, Bale, Sherri J, Compton, John G, DiGiovanna, John J, Fleckman, Philip, Lewis-Jones, Sue, Arseculeratne, Gehan, Sergeant, Ann, Munro, Colin S, El Houate, Brahim, McElreavey, Ken, Halkjaer, Liselotte B, Bisgaard, Hans, Mukhopadhyay, Somnath

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Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations von Richard, Gabriele, Brown, Nkecha, Rouan, Fatima, Campanelli, Carmen, Uitto, Jouni, Van der Schroeff, Jan-Gerrit, Bijlsma, Emilia, Eichenfield, Lawrence F., Sybert, Virginia P., Greer, Kenneth E., Hogan, Peter, Compton, John G., Bale, Sherri J., DiGiovanna, John J.

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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories von O’Daniel, Julianne M., McLaughlin, Heather M., Amendola, Laura M., Bale, Sherri J., Berg, Jonathan S., Bick, David, Bowling, Kevin M., Chao, Elizabeth C., Chung, Wendy K., Conlin, Laura K., Cooper, Gregory M., Das, Soma, Deignan, Joshua L., Dorschner, Michael O., Evans, James P., Ghazani, Arezou A., Goddard, Katrina A., Gornick, Michele, Farwell Hagman, Kelly D., Hambuch, Tina, Hegde, Madhuri, Hindorff, Lucia A., Holm, Ingrid A., Jarvik, Gail P., Knight Johnson, Amy, Mighion, Lindsey, Morra, Massimo, Plon, Sharon E., Punj, Sumit, Richards, C. Sue, Santani, Avni, Shirts, Brian H., Spinner, Nancy B., Tang, Sha, Weck, Karen E., Wolf, Susan M., Yang, Yaping, Rehm, Heidi L.

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Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis von Russell, Laura J, DiGiovanna, John J, Rogers, Geraldine R, Steinert, Peter M, Hashem, Nemat, Compton, John G, Bale, Sherri J

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Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10  Mutations von Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrzej, Eyre, David R., Bale, Sherri J., Marini, Joan C.

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog von Solomon, Benjamin D, Bear, Kelly A, Wyllie, Adrian, Keaton, Amelia A, Dubourg, Christele, David, Veronique, Mercier, Sandra, Odent, Sylvie, Hehr, Ute, Paulussen, Aimee, Clegg, Nancy J, Delgado, Mauricio R, Bale, Sherri J, Lacbawan, Felicitas, Ardinger, Holly H, Aylsworth, Arthur S, Bhengu, Ntombenhle Louisa, Braddock, Stephen, Brookhyser, Karen, Burton, Barbara, Gaspar, Harald, Grix, Art, Horovitz, Dafne, Kanetzke, Erin, Kayserili, Hulya, Lev, Dorit, Nikkel, Sarah M, Norton, Mary, Roberts, Richard, Saal, Howard, Schaefer, G B, Schneider, Adele, Smith, Erika K, Sowry, Ellen, Spence, M Anne, Shalev, Stavit A, Steiner, Carlos E, Thompson, Elizabeth M, Winder, Thomas L, Balog, Joan Z, Hadley, Donald W, Zhou, Nan, Pineda-Alvarez, Daniel E, Roessler, Erich, Muenke, Maximilian

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Mapping of the associated phenotype of an absent granular layer in ichthyosis vulgaris to the epidermal differentiation complex on chromosome 1 von Compton, John G., DiGiovanna, John J., Johnston, Kay A., Fleckman, Philip, Bale, Sherri J.

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