Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

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Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications

Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N

Publication Date: 2021-09-14

Variant appearance in text: SNCA: 349C>T; P117S; rs145138372

PubMed Link: 34521849

Variant Present in the following documents:

• 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7

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Genetic Analysis and Literature Review of SNCA Variants in Parkinson's Disease.

Frontiers In Aging Neuroscience

Guo, Yi Y; Sun, Yan Y; Song, Zhi Z; Zheng, Wen W; Xiong, Wei W; Yang, Yan Y; Yuan, Lamei L; Deng, Hao H

Publication Date: 2021

Variant appearance in text: SNCA: 349C>T; P117S; rs145138372

PubMed Link: 34456707

Variant Present in the following documents:

• Main text
• Data_Sheet_1.pdf
• fnagi-13-648151.pdf

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Mutations in GBA, SNCA, and VPS35 are not associated with Alzheimer's disease in a Chinese population: a case-control study.

Neural Regeneration Research

Wen, Ya-Fei YF; Xiao, Xue-Wen XW; Zhou, Lu L; Jiang, Ya-Ling YL; Zhu, Yuan Y; Guo, Li-Na LN; Wang, Xin X; Liu, Hui H; Zhou, Ya-Fang YF; Wang, Jun-Ling JL; Liao, Xin-Xin XX; Shen, Lu L; Jiao, Bin B

Publication Date: 2022-03

Variant appearance in text: SNCA: 349C>T; P117S; rs145138372

PubMed Link: 34380910

Variant Present in the following documents:

• Main text
• NRR-17-682.pdf

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A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease.

Parkinsonism & Related Disorders

Fevga, Christina C; Park, Yangshin Y; Lohmann, Ebba E; Kievit, Anneke J AJ; Breedveld, Guido J GJ; Ferraro, Federico F; de Boer, Leon L; van Minkelen, Rick R; Hanagasi, Hasmet H; Boon, Agnita A; Wang, Wei W; Petsko, Gregory A GA; Hoang, Quyen Q QQ; Emre, Murat M; Bonifati, Vincenzo V

Publication Date: 2021-08

Variant appearance in text: SNCA: Pro117Ser

PubMed Link: 34229155

Variant Present in the following documents:

• Main text
• nihms-1752483.pdf

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Fine-Mapping of SNCA in Rapid Eye Movement Sleep Behavior Disorder and Overt Synucleinopathies.

Annals Of Neurology

Krohn, Lynne L; Wu, Richard Y J RYJ; Heilbron, Karl K; Ruskey, Jennifer A JA; Laurent, Sandra B SB; Blauwendraat, Cornelis C; Alam, Armaghan A; Arnulf, Isabelle I; Hu, Michele T M MTM; Dauvilliers, Yves Y; Högl, Birgit B; Toft, Mathias M; Bjørnarå, Kari Anne KA; Stefani, Ambra A; Holzknecht, Evi E; Monaca, Christelle Charley CC; Abril, Beatriz B; Plazzi, Giuseppe G; Antelmi, Elena E; Ferini-Strambi, Luigi L; Young, Peter P; Heidbreder, Anna A; Cochen De Cock, Valérie V; Mollenhauer, Brit B; Sixel-Döring, Friederike F; Trenkwalder, Claudia C; Sonka, Karel K; Kemlink, David D; Figorilli, Michela M; Puligheddu, Monica M; Dijkstra, Femke F; Viaene, Mineke M; Oertel, Wolfang W; Toffoli, Marco M; Gigli, Gian Luigi GL; Valente, Mariarosaria M; Gagnon, Jean-François JF; Nalls, Mike A MA; Singleton, Andrew B AB; , ; Desautels, Alex A; Montplaisir, Jacques Y JY; Cannon, Paul P; Ross, Owen A OA; Boeve, Bradley F BF; Dupré, Nicolas N; Fon, Edward A EA; Postuma, Ronald B RB; Pihlstrøm, Lasse L; Rouleau, Guy A GA; Gan-Or, Ziv Z

Publication Date: 2020-04

Variant appearance in text: SNCA: P117S; rs145138372

PubMed Link: 31976583

Variant Present in the following documents:

• Main text

View BVdb publication page

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