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: 1105G>A; Ala369Thr

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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Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.

Ultrasound In Obstetrics & Gynecology : The Official Journal Of The International Society Of Ultrasound In Obstetrics And Gynecology

Yaron, Y Y; Ofen Glassner, V V; Mory, A A; Zunz Henig, N N; Kurolap, A A; Bar Shira, A A; Brabbing Goldstein, D D; Marom, D D; Ben Sira, L L; Baris Feldman, H H; Malinger, G G; Krajden Haratz, K K; Reches, A A

Publication Date: 2022-07

Variant appearance in text: TUBA1A: 1105G>A; Ala369Thr

PubMed Link: 35229910

Variant Present in the following documents:

• Main text
• UOG-60-59.pdf

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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: 1105G>A; Ala369Thr

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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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: 1105G>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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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: A369T

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: 1105G>A; A369T

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: A369T

PubMed Link: 26493046

Variant Present in the following documents:

• Main text
• srep15165.pdf

View BVdb publication page

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