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Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne
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Published in Human mutation (01.08.2022)
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HGVS Recommendations for the Description of Sequence Variants: 2016 Update
den Dunnen, Johan T., Dalgleish, Raymond, Maglott, Donna R., Hart, Reece K., Greenblatt, Marc S., McGowan-Jordan, Jean, Roux, Anne-Francoise, Smith, Timothy, Antonarakis, Stylianos E., Taschner, Peter E.M.
Published in Human mutation (01.06.2016)
Published in Human mutation (01.06.2016)
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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
Sobreira, Nara, Schiettecatte, François, Valle, David, Hamosh, Ada
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data
Bouaoun, Liacine, Sonkin, Dmitriy, Ardin, Maude, Hollstein, Monica, Byrnes, Graham, Zavadil, Jiri, Olivier, Magali
Published in Human mutation (01.09.2016)
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Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
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Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
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The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns
Published in Human mutation (01.04.2015)
Published in Human mutation (01.04.2015)
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The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
Philippakis, Anthony A., Azzariti, Danielle R., Beltran, Sergi, Brookes, Anthony J., Brownstein, Catherine A., Brudno, Michael, Brunner, Han G., Buske, Orion J., Carey, Knox, Doll, Cassie, Dumitriu, Sergiu, Dyke, Stephanie O.M., den Dunnen, Johan T., Firth, Helen V., Gibbs, Richard A., Girdea, Marta, Gonzalez, Michael, Haendel, Melissa A., Hamosh, Ada, Holm, Ingrid A., Huang, Lijia, Hurles, Matthew E., Hutton, Ben, Krier, Joel B., Misyura, Andriy, Mungall, Christopher J., Paschall, Justin, Paten, Benedict, Robinson, Peter N., Schiettecatte, François, Sobreira, Nara L., Swaminathan, Ganesh J., Taschner, Peter E., Terry, Sharon F., Washington, Nicole L., Züchner, Stephan, Boycott, Kym M., Rehm, Heidi L.
Published in Human mutation (01.10.2015)
Published in Human mutation (01.10.2015)
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Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Shihab, Hashem A., Gough, Julian, Cooper, David N., Stenson, Peter D., Barker, Gary L. A., Edwards, Keith J., Day, Ian N. M., Gaunt, Tom R.
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Oncotator: Cancer Variant Annotation Tool
Ramos, Alex H., Lichtenstein, Lee, Gupta, Manaswi, Lawrence, Michael S., Pugh, Trevor J., Saksena, Gordon, Meyerson, Matthew, Getz, Gad
Published in Human mutation (01.04.2015)
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Iranome: A catalog of genomic variations in the Iranian population
Fattahi, Zohreh, Beheshtian, Maryam, Mohseni, Marzieh, Poustchi, Hossein, Sellars, Erin, Nezhadi, Sayyed Hossein, Amini, Amir, Arzhangi, Sanaz, Jalalvand, Khadijeh, Jamali, Peyman, Mohammadi, Zahra, Davarnia, Behzad, Nikuei, Pooneh, Oladnabi, Morteza, Mohammadzadeh, Akbar, Zohrehvand, Elham, Nejatizadeh, Azim, Shekari, Mohammad, Bagherzadeh, Maryam, Shamsi‐Gooshki, Ehsan, Börno, Stefan, Timmermann, Bernd, Haghdoost, Aliakbar, Najafipour, Reza, Khorram Khorshid, Hamid Reza, Kahrizi, Kimia, Malekzadeh, Reza, Akbari, Mohammad R., Najmabadi, Hossein
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines
Tavtigian, Sean V., Harrison, Steven M., Boucher, Kenneth M., Biesecker, Leslie G.
Published in Human mutation (01.10.2020)
Published in Human mutation (01.10.2020)
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Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants
Fortuno, Cristina, Lee, Kristy, Olivier, Magali, Pesaran, Tina, Mai, Phuong L., Andrade, Kelvin C., Attardi, Laura D., Crowley, Stephanie, Evans, D. Gareth, Feng, Bing‐Jian, Foreman, Ann K. M., Frone, Megan N., Huether, Robert, James, Paul A., McGoldrick, Kelly, Mester, Jessica, Seifert, Bryce A., Slavin, Thomas P., Witkowski, Leora, Zhang, Liying, Plon, Sharon E., Spurdle, Amanda B., Savage, Sharon A.
Published in Human mutation (01.03.2021)
Published in Human mutation (01.03.2021)
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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
McCormick, Elizabeth M., Lott, Marie T., Dulik, Matthew C., Shen, Lishuang, Attimonelli, Marcella, Vitale, Ornella, Karaa, Amel, Bai, Renkui, Pineda‐Alvarez, Daniel E., Singh, Larry N., Stanley, Christine M., Wong, Stacey, Bhardwaj, Anshu, Merkurjev, Daria, Mao, Rong, Sondheimer, Neal, Zhang, Shiping, Procaccio, Vincent, Wallace, Douglas C., Gai, Xiaowu, Falk, Marni J.
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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Exomic variants of an elderly cohort of Brazilians in the ABraOM database
Naslavsky, Michel Satya, Yamamoto, Guilherme Lopes, Almeida, Tatiana Ferreira, Ezquina, Suzana A. M., Sunaga, Daniele Yumi, Pho, Nam, Bozoklian, Daniel, Sandberg, Tatiana Orli Milkewitz, Brito, Luciano Abreu, Lazar, Monize, Bernardo, Danilo Vicensotto, Amaro, Edson, Duarte, Yeda A. O., Lebrão, Maria Lúcia, Passos‐Bueno, Maria Rita, Zatz, Mayana
Published in Human mutation (01.07.2017)
Published in Human mutation (01.07.2017)
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A mutation update for the FLNC gene in myopathies and cardiomyopathies
Verdonschot, Job A. J., Vanhoutte, Els K., Claes, Godelieve R. F., Helderman‐van den Enden, Apollonia T. J. M., Hoeijmakers, Janneke G. J., Hellebrekers, Debby M. E. I., Haan, Amber, Christiaans, Imke, Lekanne Deprez, Ronald H., Boen, Hanne M., Craenenbroeck, Emeline M., Loeys, Bart L., Hoedemaekers, Yvonne M., Marcelis, Carlo, Kempers, Marlies, Brusse, Esther, Waning, Jaap I., Baas, Annette F., Dooijes, Dennis, Asselbergs, Folkert W., Barge‐Schaapveld, Daniela Q. C. M., Koopman, Pieter, Wijngaard, Arthur, Heymans, Stephane R. B., Krapels, Ingrid P. C., Brunner, Han G.
Published in Human mutation (01.06.2020)
Published in Human mutation (01.06.2020)
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