Publications:

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: 1118G>A; Arg373Lys

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: 1118G>A; Arg373Lys

PubMed Link: 30744660

Variant Present in the following documents:

• 13023_2019_1020_MOESM2_ESM.xlsx, sheet 5

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Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

Genome Medicine

Normand, Elizabeth A EA; Braxton, Alicia A; Nassef, Salma S; Ward, Patricia A PA; Vetrini, Francesco F; He, Weimin W; Patel, Vipulkumar V; Qu, Chunjing C; Westerfield, Lauren E LE; Stover, Samantha S; Dharmadhikari, Avinash V AV; Muzny, Donna M DM; Gibbs, Richard A RA; Dai, Hongzheng H; Meng, Linyan L; Wang, Xia X; Xiao, Rui R; Liu, Pengfei P; Bi, Weimin W; Xia, Fan F; Walkiewicz, Magdalena M; Van den Veyver, Ignatia B IB; Eng, Christine M CM; Yang, Yaping Y

Publication Date: 2018-09-28

Variant appearance in text: TUBA1A: 1118G>A; R373K

PubMed Link: 30266093

Variant Present in the following documents:

• Main text
• 13073_2018_Article_582.pdf

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Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.

Rare Diseases (Austin, Tex.)

Rohena, Luis L; Neidich, Julie J; Truitt Cho, Megan M; Gonzalez, Kelly Df KD; Tang, Sha S; Devinsky, Orrin O; Chung, Wendy K WK

Publication Date: 2013

Variant appearance in text: TUBA1A: 1118G>A; R373H

PubMed Link: 25003006

Variant Present in the following documents:

• Main text
• rdis-1-e26314.pdf

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