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: 641G>A; Arg214His

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: R214H

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: 641G>A; Arg214His

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: TUBA1A: 641G>A; Arg214His

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.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: 641G>A; R214H

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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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: 641G>A; Arg214His

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: TUBA1A: 641G>A; R214H

PubMed Link: 30744660

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1020.pdf
• 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: Arg214His

PubMed Link: 30087272

Variant Present in the following documents:

• Main text
• brainsci-08-00145.pdf

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Exome Pool-Seq in neurodevelopmental disorders.

European Journal Of Human Genetics : Ejhg

Popp, Bernt B; Ekici, Arif B AB; Thiel, Christian T CT; Hoyer, Juliane J; Wiesener, Antje A; Kraus, Cornelia C; Reis, André A; Zweier, Christiane C

Publication Date: 2017-12

Variant appearance in text: TUBA1A: 641G>A; Arg214His

PubMed Link: 29158550

Variant Present in the following documents:

• Main text
• 41431_2017_22_MOESM5_ESM.xlsx, sheet 6
• 41431_2017_Article_22.pdf
• 41431_2017_22_MOESM2_ESM.xlsx, sheet 5

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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: R214H

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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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: 641G>A; R214H

PubMed Link: 26760504

Variant Present in the following documents:

• oncotarget-07-19414-s001.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: 641G>A; Arg214His

PubMed Link: 26130693

Variant Present in the following documents:

• Main text

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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: 641G>A; R214H

PubMed Link: 25059107

Variant Present in the following documents:

• Main text
• 40478_2014_Article_152.pdf

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