Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Genomic study of nonsyndromic hearing loss in unaffected individuals: Frequency of pathogenic and likely pathogenic variants in a Brazilian cohort of 2,097 genomes.
Frontiers In Genetics
Quaio, Caio Robledo D' Angioli Costa CRAC; Coelho, Antonio Victor Campos AVC; Moura, Livia Maria Silva LMS; Guedes, Rafael Lucas Muniz RLM; Chen, Kelin K; Ceroni, Jose Ricardo Magliocco JRM; Minillo, Renata Moldenhauer RM; Caraciolo, Marcel Pinheiro MP; Reis, Rodrigo de Souza RS; de Azevedo, Bruna Mascaro Cordeiro BMC; Nobrega, Maria Soares MS; Teixeira, Anne Caroline Barbosa ACB; Martinelli Lima, Matheus M; da Mota, Thamara Rayssa TR; da Matta, Marina Cadena MC; Colichio, Gabriela Borges Cherulli GBC; Roncalho, Aline Lulho AL; Ferreira, Ana Flavia Martinho AFM; Campilongo, Gabriela Pereira GP; Perrone, Eduardo E; Virmond, Luiza do Amaral LDA; Moreno, Carolina Araujo CA; Prota, Joana Rosa Marques JRM; de França, Marina M; Cervato, Murilo Castro MC; de Almeida, Tatiana Ferreira TF; de Oliveira Filho, Joao Bosco JB
Publication Date: 2022
Variant appearance in text: TBC1D24: 724C>T; Arg242Cys; rs398122965
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: TBC1D24: 724C>T; R242C
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus.
Tremor And Other Hyperkinetic Movements (New York, N.Y.)
Ngoh, Adeline A; Bras, Jose J; Guerreiro, Rita R; McTague, Amy A; Ng, Joanne J; Meyer, Esther E; Chong, W Kling WK; Boyd, Stewart S; MacLellan, Linda L; Kirkpatrick, Martin M; Kurian, Manju A MA
TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.
Neurology
Balestrini, Simona S; Milh, Mathieu M; Castiglioni, Claudia C; Lüthy, Kevin K; Finelli, Mattea J MJ; Verstreken, Patrik P; Cardon, Aaron A; Stražišar, Barbara Gnidovec BG; Holder, J Lloyd JL; Lesca, Gaetan G; Mancardi, Maria M MM; Poulat, Anne L AL; Repetto, Gabriela M GM; Banka, Siddharth S; Bilo, Leonilda L; Birkeland, Laura E LE; Bosch, Friedrich F; Brockmann, Knut K; Cross, J Helen JH; Doummar, Diane D; Félix, Temis M TM; Giuliano, Fabienne F; Hori, Mutsuki M; Hüning, Irina I; Kayserili, Hulia H; Kini, Usha U; Lees, Melissa M MM; Meenakshi, Girish G; Mewasingh, Leena L; Pagnamenta, Alistair T AT; Peluso, Silvio S; Mey, Antje A; Rice, Gregory M GM; Rosenfeld, Jill A JA; Taylor, Jenny C JC; Troester, Matthew M MM; Stanley, Christine M CM; Ville, Dorothee D; Walkiewicz, Magdalena M; Falace, Antonio A; Fassio, Anna A; Lemke, Johannes R JR; Biskup, Saskia S; Tardif, Jessica J; Ajeawung, Norbert F NF; Tolun, Aslihan A; Corbett, Mark M; Gecz, Jozef J; Afawi, Zaid Z; Howell, Katherine B KB; Oliver, Karen L KL; Berkovic, Samuel F SF; Scheffer, Ingrid E IE; de Falco, Fabrizio A FA; Oliver, Peter L PL; Striano, Pasquale P; Zara, Federico F; Campeau, Phillipe M PM; Sisodiya, S M SM
The genetic basis of DOORS syndrome: an exome-sequencing study.
The Lancet. Neurology
Campeau, Philippe M PM; Kasperaviciute, Dalia D; Lu, James T JT; Burrage, Lindsay C LC; Kim, Choel C; Hori, Mutsuki M; Powell, Berkley R BR; Stewart, Fiona F; Félix, Têmis Maria TM; van den Ende, Jenneke J; Wisniewska, Marzena M; Kayserili, Hülya H; Rump, Patrick P; Nampoothiri, Sheela S; Aftimos, Salim S; Mey, Antje A; Nair, Lal D V LD; Begleiter, Michael L ML; De Bie, Isabelle I; Meenakshi, Girish G; Murray, Mitzi L ML; Repetto, Gabriela M GM; Golabi, Mahin M; Blair, Edward E; Male, Alison A; Giuliano, Fabienne F; Kariminejad, Ariana A; Newman, William G WG; Bhaskar, Sanjeev S SS; Dickerson, Jonathan E JE; Kerr, Bronwyn B; Banka, Siddharth S; Giltay, Jacques C JC; Wieczorek, Dagmar D; Tostevin, Anna A; Wiszniewska, Joanna J; Cheung, Sau Wai SW; Hennekam, Raoul C RC; Gibbs, Richard A RA; Lee, Brendan H BH; Sisodiya, Sanjay M SM