Publications:

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: 455T>A; Leu152Gln

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: L152Q

PubMed Link: 35017693

Variant Present in the following documents:

• 41431_2021_1027_MOESM4_ESM.xlsx, sheet 1

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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: 455T>A; Leu152Gln

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_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: L152Q

PubMed Link: 29057214

Variant Present in the following documents:

• Main text
• jdb-05-00008.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TUBA1A: L152Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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