Publications:

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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics

Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L

Publication Date: 2023-03-16

Variant appearance in text: rs137853050

PubMed Link: 36928603

Variant Present in the following documents:

• 41588_2023_1321_MOESM4_ESM.xlsx, sheet 44

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: TUBA1A: 1265G>A; Arg422His

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Plos Computational Biology

Attard, Thomas J TJ; Welburn, Julie P I JPI; Marsh, Joseph A JA

Publication Date: 2022-10

Variant appearance in text: TUBA1A: R422H

PubMed Link: 36206299

Variant Present in the following documents:

• pcbi.1010611.s002.xlsx, sheet 2

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Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

European Journal Of Human Genetics : Ejhg

Schröter, Julian J; Popp, Bernt B; Brennenstuhl, Heiko H; Döring, Jan H JH; Donze, Stephany H SH; Bijlsma, Emilia K EK; van Haeringen, Arie A; Huhle, Dagmar D; Jestaedt, Leonie L; Merkenschlager, Andreas A; Arelin, Maria M; Gräfe, Daniel D; Neuser, Sonja S; Oates, Stephanie S; Pal, Deb K DK; Parker, Michael J MJ; Lemke, Johannes R JR; Hoffmann, Georg F GF; Kölker, Stefan S; Harting, Inga I; Syrbe, Steffen S

Publication Date: 2022-03

Variant appearance in text: TUBA1A: 1265G>A; Arg422His

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Estimating dispensable content in the human interactome.

Nature Communications

Ghadie, Mohamed M; Xia, Yu Y

Publication Date: 2019-07-19

Variant appearance in text: TUBA1A: 1265G>A; Arg422His

PubMed Link: 31324802

Variant Present in the following documents:

• 41467_2019_11180_MOESM8_ESM.xlsx, sheet 4
• 41467_2019_11180_MOESM6_ESM.xlsx, sheet 4

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The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.

Orphanet Journal Of Rare Diseases

Hebebrand, Moritz M; Hüffmeier, Ulrike U; Trollmann, Regina R; Hehr, Ute U; Uebe, Steffen S; Ekici, Arif B AB; Kraus, Cornelia C; Krumbiegel, Mandy M; Reis, André A; Thiel, Christian T CT; Popp, Bernt B

Publication Date: 2019-02-11

Variant appearance in text: TUBA3: 1265G>A

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5
• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation.

Brain Sciences

Gardner, Jennifer F JF; Cushion, Thomas D TD; Niotakis, Georgios G; Olson, Heather E HE; Grant, P Ellen PE; Scott, Richard H RH; Stoodley, Neil N; Cohen, Julie S JS; Naidu, Sakkubai S; Attie-Bitach, Tania T; Bonnières, Maryse M; Boutaud, Lucile L; Encha-Razavi, Férechté F; Palmer-Smith, Sheila M SM; Mugalaasi, Hood H; Mullins, Jonathan G L JGL; Pilz, Daniela T DT; Fry, Andrew E AE

Publication Date: 2018-08-07

Variant appearance in text: TUBA1A: Arg422His

PubMed Link: 30087272

Variant Present in the following documents:

• Main text
• brainsci-08-00145.pdf

View BVdb publication page

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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Di Donato, Nataliya N; Timms, Andrew E AE; Aldinger, Kimberly A KA; Mirzaa, Ghayda M GM; Bennett, James T JT; Collins, Sarah S; Olds, Carissa C; Mei, Davide D; Chiari, Sara S; Carvill, Gemma G; Myers, Candace T CT; Rivière, Jean-Baptiste JB; Zaki, Maha S MS; , ; Gleeson, Joseph G JG; Rump, Andreas A; Conti, Valerio V; Parrini, Elena E; Ross, M Elizabeth ME; Ledbetter, David H DH; Guerrini, Renzo R; Dobyns, William B WB

Publication Date: 2018-11

Variant appearance in text: TUBA1A: 1265G>A; Arg422His

PubMed Link: 29671837

Variant Present in the following documents:

• NIHMS934304-supplement-Supplementary_table_2.pdf

View BVdb publication page

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Epileptogenic Brain Malformations and Mutations in Tubulin Genes: A Case Report and Review of the Literature.

International Journal Of Molecular Sciences

Mencarelli, Annalisa A; Prontera, Paolo P; Stangoni, Gabriela G; Mencaroni, Elisabetta E; Principi, Nicola N; Esposito, Susanna S

Publication Date: 2017-10-29

Variant appearance in text: TUBA1A: R422H

PubMed Link: 29109381

Variant Present in the following documents:

• Main text
• ijms-18-02273.pdf

View BVdb publication page

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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.

Journal Of Developmental Biology

Aiken, Jayne J; Buscaglia, Georgia G; Bates, Emily A EA; Moore, Jeffrey K JK

Publication Date: 2017-09

Variant appearance in text: TUBA1A: R422H

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TUBA1A: 1265G>A; Arg422His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: TUBA1A: 1265G>A; R422H

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TUBA1A: 1265G>A; R422H

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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The cytoskeletal arrangements necessary to neurogenesis.

Oncotarget

Compagnucci, Claudia C; Piemonte, Fiorella F; Sferra, Antonella A; Piermarini, Emanuela E; Bertini, Enrico E

Publication Date: 2016-04-12

Variant appearance in text: TUBA1A: 1265G>A; R422H

PubMed Link: 26760504

Variant Present in the following documents:

• oncotarget-07-19414-s001.pdf

View BVdb publication page

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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Human Mutation

Grozeva, Detelina D; Carss, Keren K; Spasic-Boskovic, Olivera O; Tejada, Maria-Isabel MI; Gecz, Jozef J; Shaw, Marie M; Corbett, Mark M; Haan, Eric E; Thompson, Elizabeth E; Friend, Kathryn K; Hussain, Zaamin Z; Hackett, Anna A; Field, Michael M; Renieri, Alessandra A; Stevenson, Roger R; Schwartz, Charles C; Floyd, James A B JA; Bentham, Jamie J; Cosgrove, Catherine C; Keavney, Bernard B; Bhattacharya, Shoumo S; , ; , ; , ; Hurles, Matthew M; Raymond, F Lucy FL

Publication Date: 2015-12

Variant appearance in text: rs137853050

PubMed Link: 26350204

Variant Present in the following documents:

• HUMU-36-1197-s001.pdf

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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

Acta Neuropathologica Communications

Fallet-Bianco, Catherine C; Laquerrière, Annie A; Poirier, Karine K; Razavi, Ferechte F; Guimiot, Fabien F; Dias, Patricia P; Loeuillet, Laurence L; Lascelles, Karine K; Beldjord, Cherif C; Carion, Nathalie N; Toussaint, Aurélie A; Revencu, Nicole N; Addor, Marie-Claude MC; Lhermitte, Benoit B; Gonzales, Marie M; Martinovich, Jelena J; Bessieres, Bettina B; Marcy-Bonnière, Maryse M; Jossic, Frédérique F; Marcorelles, Pascale P; Loget, Philippe P; Chelly, Jamel J; Bahi-Buisson, Nadia N

Publication Date: 2014-07-25

Variant appearance in text: TUBA1A: 1265G>A; R422H

PubMed Link: 25059107

Variant Present in the following documents:

• Main text
• 40478_2014_Article_152.pdf

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Cytoarchitectural disruption of the superior colliculus and an enlarged acoustic startle response in the Tuba1a mutant mouse.

Neuroscience

Edwards, A A; Treiber, C D CD; Breuss, M M; Pidsley, R R; Huang, G-J GJ; Cleak, J J; Oliver, P L PL; Flint, J J; Keays, D A DA

Publication Date: 2011-11-10

Variant appearance in text: TUBA1A: R422H

PubMed Link: 21875651

Variant Present in the following documents:

• Main text

View BVdb publication page

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Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephaly.

Acta Neuropathologica

Friocourt, Gaëlle G; Marcorelles, Pascale P; Saugier-Veber, Pascale P; Quille, Marie-Lise ML; Marret, Stephane S; Laquerrière, Annie A

Publication Date: 2011-02

Variant appearance in text: TUBA1A: 1265G>A

PubMed Link: 21046408

Variant Present in the following documents:

• Main text
• 401_2010_Article_768.pdf

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TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

Human Molecular Genetics

Kumar, Ravinesh A RA; Pilz, Daniela T DT; Babatz, Timothy D TD; Cushion, Thomas D TD; Harvey, Kirsten K; Topf, Maya M; Yates, Laura L; Robb, Stephanie S; Uyanik, Gökhan G; Mancini, Gracia M S GM; Rees, Mark I MI; Harvey, Robert J RJ; Dobyns, William B WB

Publication Date: 2010-07-15

Variant appearance in text: TUBA1A: 1265G>A; R422H

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

View BVdb publication page

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