Publications:

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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: 1168C>T; Arg390Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: R390C

PubMed Link: 36206299

Variant Present in the following documents:

• pcbi.1010611.s002.xlsx, sheet 2

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: TUBA1A: 1168C>T; Arg390Cys

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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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: 1168C>T; Arg390Cys

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing.

Brain Communications

Stutterd, Chloe A CA; Brock, Stefanie S; Stouffs, Katrien K; Fanjul-Fernandez, Miriam M; Lockhart, Paul J PJ; McGillivray, George G; Mandelstam, Simone S; Pope, Kate K; Delatycki, Martin B MB; Jansen, Anna A; Leventer, Richard J RJ

Publication Date: 2021

Variant appearance in text: TUBA1A: 1168C>T; Arg390Cys

PubMed Link: 33604570

Variant Present in the following documents:

• Main text
• fcaa221.pdf

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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: 1168C>T

PubMed Link: 30744660

Variant Present in the following documents:

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

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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: Arg390Cys

PubMed Link: 30087272

Variant Present in the following documents:

• Main text
• brainsci-08-00145.pdf

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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: R390C

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

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

Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M

Publication Date: 2017-09

Variant appearance in text: TUBA1A: 1168C>T; R390C

PubMed Link: 28252636

Variant Present in the following documents:

• Main text
• NIHMS853380-supplement-supp_table1.xlsx, sheet 1

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: TUBA1A: R390C

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.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: 1168C>T; R390C

PubMed Link: 26760504

Variant Present in the following documents:

• oncotarget-07-19414-s001.pdf

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TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis.

Scientific Reports

Yokoi, Setsuri S; Ishihara, Naoko N; Miya, Fuyuki F; Tsutsumi, Makiko M; Yanagihara, Itaru I; Fujita, Naoko N; Yamamoto, Hiroyuki H; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Tsunoda, Tatsuhiko T; Yamasaki, Mami M; Kanemura, Yonehiro Y; Kosaki, Kenjiro K; Kojima, Seiji S; Saitoh, Shinji S; Kurahashi, Hiroki H; Natsume, Jun J

Publication Date: 2015-10-23

Variant appearance in text: TUBA1A: R390C

PubMed Link: 26493046

Variant Present in the following documents:

• srep15165-s1.pdf

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Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.

Human Molecular Genetics

Oegema, Renske R; Cushion, Thomas D TD; Phelps, Ian G IG; Chung, Seo-Kyung SK; Dempsey, Jennifer C JC; Collins, Sarah S; Mullins, Jonathan G L JG; Dudding, Tracy T; Gill, Harinder H; Green, Andrew J AJ; Dobyns, William B WB; Ishak, Gisele E GE; Rees, Mark I MI; Doherty, Dan D

Publication Date: 2015-09-15

Variant appearance in text: TUBA1A: Arg390Cys

PubMed Link: 26130693

Variant Present in the following documents:

• Main text

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Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

European Journal Of Human Genetics : Ejhg

Poirier, Karine K; Saillour, Yoann Y; Fourniol, Franck F; Francis, Fiona F; Souville, Isabelle I; Valence, Stéphanie S; Desguerre, Isabelle I; Marie Lepage, Jean J; Boddaert, Nathalie N; Line Jacquemont, Marine M; Beldjord, Cherif C; Chelly, Jamel J; Bahi-Buisson, Nadia N

Publication Date: 2013-04

Variant appearance in text: TUBA1A: 1168C>T; Arg390Cys

PubMed Link: 22948023

Variant Present in the following documents:

• Main text

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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: R390C

PubMed Link: 20466733

Variant Present in the following documents:

• Main text
• ddq182.pdf

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