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Journal Article
Cytogenetic and genome research, ISSN 1424-8581, 06/2019, Volume 158, Issue 2, pp. 55 - 55
Journal Article
Journal Article
by Parsons, Michael T and Tudini, Emma and Li, Hongyan and Hahnen, Eric and Wappenschmidt, Barbara and Feliubadaló, Lidia and Aalfs, Cora M and Agata, Simona and Aittomäki, Kristiina and Alducci, Elisa and Alonso‐Cerezo, María Concepción and Arnold, Norbert and Auber, Bernd and Austin, Rachel and Azzollini, Jacopo and Balmaña, Judith and Barbieri, Elena and Bartram, Claus R and Blanco, Ana and Blümcke, Britta and Bonache, Sandra and Bonanni, Bernardo and Borg, Åke and Bortesi, Beatrice and Brunet, Joan and Bruzzone, Carla and Bucksch, Karolin and Cagnoli, Giulia and Caldés, Trinidad and Caliebe, Almuth and Caligo, Maria A and Calvello, Mariarosaria and Capone, Gabriele L and Caputo, Sandrine M and Carnevali, Ileana and Carrasco, Estela and Caux‐Moncoutier, Virginie and Cavalli, Pietro and Cini, Giulia and Clarke, Edward M and Concolino, Paola and Cops, Elisa J and Cortesi, Laura and Couch, Fergus J and Darder, Esther and Hoya, Miguel and Dean, Michael and Debatin, Irmgard and Del Valle, Jesús and Delnatte, Capucine and Derive, Nicolas and Diez, Orland and Ditsch, Nina and Domchek, Susan M and Dutrannoy, Véronique and Eccles, Diana M and Ehrencrona, Hans and Enders, Ute and Evans, D. Gareth and Farra, Chantal and Faust, Ulrike and Felbor, Ute and Feroce, Irene and Fine, Miriam and Foulkes, William D and Galvao, Henrique C.R and Gambino, Gaetana and Gehrig, Andrea and Gensini, Francesca and Gerdes, Anne‐Marie and Germani, Aldo and Giesecke, Jutta and Gismondi, Viviana and Gómez, Carolina and Garcia, Encarna B and González, Sara and Grau, Elia and Grill, Sabine and Gross, Eva and Guerrieri‐Gonzaga, Aliana and Guillaud‐Bataille, Marine and Gutiérrez‐Enríquez, Sara and Haaf, Thomas and Hackmann, Karl and Hansen, Thomas V.O and Harris, Marion and Hauke, Jan and Heinrich, Tilman and Hellebrand, Heide and Herold, Karen N and Honisch, Ellen and Horvath, Judit and Houdayer, Claude and Hübbel, Verena and Iglesias, Silvia and Izquierdo, Angel and James, Paul A and Janssen, Linda A.M and Jeschke, Udo and Kaulfuß, Silke and ... and KConFab Investigators
Human Mutation, ISSN 1059-7794, 09/2019, Volume 40, Issue 9, pp. 1557 - 1578
The multifactorial likelihood analysis method has demonstrated utility for quantitative assessment of variant pathogenicity for multiple cancer syndrome genes.... 
uncertain significance | clinical | quantitative | variant | multifactorial | BRCA1 | BRCA2 | classification | RISKS | GUIDELINES | SEQUENCE VARIANTS | SPLICING ANALYSIS | INTEGRATED EVALUATION | BREAST-CANCER | FUNCTIONAL ASSAYS | GENETICS & HEREDITY | CLINGEN | OVARIAN | RNA | Segregation | BRCA2 protein | Pathogenicity | Splicing | AMP | BRCA1 protein | Classification | Breast cancer | mRNA | Life Sciences | Human health and pathology | Special
Journal Article
Molecular Syndromology, ISSN 1661-8769, 09/2015, Volume 6, Issue 3, pp. 110 - 134
Complex chromosome rearrangements (CCRs) are currently defined as structural genome variations that involve more than 2 chromosome breaks and result in... 
Review Article | Triplosufficiency | Structural genome variations | DNA double-strand break | Complex chromosome rearrangements | Haploinsufficiency | Mixed mutation mechanisms | Review
Journal Article
Journal Article
by Schmid, Michael and Smith, Jacqueline and Burt, David W and Aken, Bronwen L and Antin, Parker B and Archibald, Alan L and Ashwell, Chris and Blackshear, Perry J and Boschiero, Clarissa and Brown, C. Titus and Burgess, Shane C and Cheng, Hans H and Chow, William and Coble, Derrick J and Cooksey, Amanda and Crooijmans, Richard P.M.A and Damas, Joana and Davis, Richard V.N and de Koning, Dirk-Jan and Delany, Mary E and Derrien, Thomas and Desta, Takele T and Dunn, Ian C and Dunn, Matthew and Ellegren, Hans and Eöry, Lél and Erb, Ionas and Farré, Marta and Fasold, Mario and Fleming, Damarius and Flicek, Paul and Fowler, Katie E and Frésard, Laure and Froman, David P and Garceau, Valerie and Gardner, Paul P and Gheyas, Almas A and Griffin, Darren K and Groenen, Martien A.M and Haaf, Thomas and Hanotte, Olivier and Hart, Alan and Häsler, Julien and Hedges, S. Blair and Hertel, Jana and Howe, Kerstin and Hubbard, Allen and Hume, David A and Kaiser, Pete and Kedra, Darek and Kemp, Stephen J and Klopp, Christophe and Kniel, Kalmia E and Kuo, Richard and Lagarrigue, Sandrine and Lamont, Susan J and Larkin, Denis M and Lawal, Raman A and Markland, Sarah M and McCarthy, Fiona and McCormack, Heather A and McPherson, Marla C and Motegi, Akira and Muljo, Stefan A and Münsterberg, Andrea and Nag, Rishi and Nanda, Indrajit and Neuberger, Michael and Nitsche, Anne and Notredame, Cedric and Noyes, Harry and O'Connor, Rebecca and O'Hare, Elizabeth A and Oler, Andrew J and Ommeh, Sheila C and Pais, Helio and Persia, Michael and Pitel, Frédérique and Preeyanon, Likit and Prieto Barja, Pablo and Pritchett, Elizabeth M and Rhoads, Douglas D and Robinson, Charmaine M and Romanov, Michael N and Rothschild, Max and Roux, Pierre-François and Schmidt, Carl J and Schneider, Alisa-Sophia and Schwartz, Matthew G and Searle, Steve M and Skinner, Michael A and Smith, Craig A and Stadler, Peter F and Steeves, Tammy E and Steinlein, Claus and Sun, Liang and Takata, Minoru and Ulitsky, Igor and Wang, Qing and Wang, Ying and ... and Teknisk-naturvetenskapliga vetenskapsområdet and Evolutionsbiologi and Biologiska sektionen and Uppsala universitet and Institutionen för ekologi och genetik
Cytogenetic and Genome Research, ISSN 1424-8581, 08/2015, Volume 145, Issue 2, pp. 78 - 179