Kim, Soon-Chan SC; Park, Ji Won JW; Seo, Ha-Young HY; Kim, Minjung M; Park, Jae-Hyeon JH; Kim, Ga-Hye GH; Lee, Ja Oh JO; Shin, Young-Kyoung YK; Bae, Jeong Mo JM; Koo, Bon-Kyoung BK; Jeong, Seung-Yong SY; Ku, Ja-Lok JL
Publication Date: 2022-02
Variant appearance in text: KMT2C: 2534G>A; Gly845Glu
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021
Variant appearance in text: KMT2C: 2534G>A; G845E; rs4024419
BET proteolysis targeted chimera-based therapy of novel models of Richter Transformation-diffuse large B-cell lymphoma.
Leukemia
Fiskus, Warren W; Mill, Christopher P CP; Perera, Dimuthu D; Birdwell, Christine C; Deng, Qing Q; Yang, Haopeng H; Lara, Bernardo H BH; Jain, Nitin N; Burger, Jan J; Ferrajoli, Alessandra A; Davis, John A JA; Saenz, Dyana T DT; Jin, Wendy W; Coarfa, Cristian C; Crews, Craig M CM; Green, Michael R MR; Khoury, Joseph D JD; Bhalla, Kapil N KN
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20
Variant appearance in text: MLL3: G845E; rs4024419
Tracking Cancer Evolution Reveals Constrained Routes to Metastases: TRACERx Renal.
Cell
Turajlic, Samra S; Xu, Hang H; Litchfield, Kevin K; Rowan, Andrew A; Chambers, Tim T; Lopez, Jose I JI; Nicol, David D; O'Brien, Tim T; Larkin, James J; Horswell, Stuart S; Stares, Mark M; Au, Lewis L; Jamal-Hanjani, Mariam M; Challacombe, Ben B; Chandra, Ashish A; Hazell, Steve S; Eichler-Jonsson, Claudia C; Soultati, Aspasia A; Chowdhury, Simon S; Rudman, Sarah S; Lynch, Joanna J; Fernando, Archana A; Stamp, Gordon G; Nye, Emma E; Jabbar, Faiz F; Spain, Lavinia L; Lall, Sharanpreet S; Guarch, Rosa R; Falzon, Mary M; Proctor, Ian I; Pickering, Lisa L; Gore, Martin M; Watkins, Thomas B K TBK; Ward, Sophia S; Stewart, Aengus A; DiNatale, Renzo R; Becerra, Maria F MF; Reznik, Ed E; Hsieh, James J JJ; Richmond, Todd A TA; Mayhew, George F GF; Hill, Samantha M SM; McNally, Catherine D CD; Jones, Carol C; Rosenbaum, Heidi H; Stanislaw, Stacey S; Burgess, Daniel L DL; Alexander, Nelson R NR; Swanton, Charles C; , ; ,
Turajlic, Samra S; Xu, Hang H; Litchfield, Kevin K; Rowan, Andrew A; Horswell, Stuart S; Chambers, Tim T; O'Brien, Tim T; Lopez, Jose I JI; Watkins, Thomas B K TBK; Nicol, David D; Stares, Mark M; Challacombe, Ben B; Hazell, Steve S; Chandra, Ashish A; Mitchell, Thomas J TJ; Au, Lewis L; Eichler-Jonsson, Claudia C; Jabbar, Faiz F; Soultati, Aspasia A; Chowdhury, Simon S; Rudman, Sarah S; Lynch, Joanna J; Fernando, Archana A; Stamp, Gordon G; Nye, Emma E; Stewart, Aengus A; Xing, Wei W; Smith, Jonathan C JC; Escudero, Mickael M; Huffman, Adam A; Matthews, Nik N; Elgar, Greg G; Phillimore, Ben B; Costa, Marta M; Begum, Sharmin S; Ward, Sophia S; Salm, Max M; Boeing, Stefan S; Fisher, Rosalie R; Spain, Lavinia L; Navas, Carolina C; Grönroos, Eva E; Hobor, Sebastijan S; Sharma, Sarkhara S; Aurangzeb, Ismaeel I; Lall, Sharanpreet S; Polson, Alexander A; Varia, Mary M; Horsfield, Catherine C; Fotiadis, Nicos N; Pickering, Lisa L; Schwarz, Roland F RF; Silva, Bruno B; Herrero, Javier J; Luscombe, Nick M NM; Jamal-Hanjani, Mariam M; Rosenthal, Rachel R; Birkbak, Nicolai J NJ; Wilson, Gareth A GA; Pipek, Orsolya O; Ribli, Dezso D; Krzystanek, Marcin M; Csabai, Istvan I; Szallasi, Zoltan Z; Gore, Martin M; McGranahan, Nicholas N; Van Loo, Peter P; Campbell, Peter P; Larkin, James J; Swanton, Charles C; ,
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24
Variant appearance in text: MLL3: G845E; rs4024419
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Bmc Medical Genetics
Porsch, Robert M RM; Merello, Elisa E; De Marco, Patrizia P; Cheng, Guo G; Rodriguez, Laura L; So, Manting M; Sham, Pak C PC; Tam, Paul K PK; Capra, Valeria V; Cherny, Stacey S SS; Garcia-Barcelo, Maria-Mercè MM; Campbell, Desmond D DD
Publication Date: 2016-12-22
Variant appearance in text: KMT2C: 2534G>A; G845E; rs4024419
Molecular analysis of aggressive renal cell carcinoma with unclassified histology reveals distinct subsets.
Nature Communications
Chen, Ying-Bei YB; Xu, Jianing J; Skanderup, Anders Jacobsen AJ; Dong, Yiyu Y; Brannon, A Rose AR; Wang, Lu L; Won, Helen H HH; Wang, Patricia I PI; Nanjangud, Gouri J GJ; Jungbluth, Achim A AA; Li, Wei W; Ojeda, Virginia V; Hakimi, A Ari AA; Voss, Martin H MH; Schultz, Nikolaus N; Motzer, Robert J RJ; Russo, Paul P; Cheng, Emily H EH; Giancotti, Filippo G FG; Lee, William W; Berger, Michael F MF; Tickoo, Satish K SK; Reuter, Victor E VE; Hsieh, James J JJ
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Plos One
Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB
Identification of the PS1 Thr147Ile Variant in a Family with Very Early Onset Dementia and Expressive Aphasia.
Journal Of Alzheimer'S Disease : Jad
Denvir, James J; Neitch, Shirley S; Fan, Jun J; Niles, Richard M RM; Boskovic, Goran G; Schreurs, Bernard G BG; Primerano, Donald A DA; Alkon, Daniel L DL
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Plos One
Pippucci, Tommaso T; Parmeggiani, Antonia A; Palombo, Flavia F; Maresca, Alessandra A; Angius, Andrea A; Crisponi, Laura L; Cucca, Francesco F; Liguori, Rocco R; Valentino, Maria Lucia ML; Seri, Marco M; Carelli, Valerio V
Publication Date: 2013
Variant appearance in text: MLL3: 2534G>A; rs4024419