Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs10005233

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson's disease.

Npj Parkinson'S Disease

Pedersen, Camilla Christina CC; Lange, Johannes J; Førland, Marthe Gurine Gunnarsdatter MGG; Macleod, Angus D AD; Alves, Guido G; Maple-Grødem, Jodi J

Publication Date: 2021-07-01

Variant appearance in text: rs10005233

PubMed Link: 34210990

Variant Present in the following documents:

• 41531_2021_196_MOESM1_ESM.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SNCA: 306+66G>A; rs10005233

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Current Update on Clinically Relevant Sleep Issues in Parkinson's Disease: A Narrative Review.

Journal Of Parkinson'S Disease

Suzuki, Keisuke K

Publication Date: 2021

Variant appearance in text: rs10005233

PubMed Link: 33896849

Variant Present in the following documents:

• Main text

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Gene-based association analysis identifies 190 genes affecting neuroticism.

Scientific Reports

Belonogova, Nadezhda M NM; Zorkoltseva, Irina V IV; Tsepilov, Yakov A YA; Axenovich, Tatiana I TI

Publication Date: 2021-01-28

Variant appearance in text: rs10005233

PubMed Link: 33510330

Variant Present in the following documents:

• Main text
• 41598_2021_Article_82123.pdf

View BVdb publication page

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Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.

Respiratory Research

Wang, Mingbang M; Zhuang, Deyi D; Mei, Mei M; Ma, Haiyan H; Li, Zixiu Z; He, Fusheng F; Cheng, Guoqiang G; Lin, Guang G; Zhou, Wenhao W

Publication Date: 2020-02-13

Variant appearance in text: rs10005233

PubMed Link: 32054482

Variant Present in the following documents:

• 12931_2020_1314_MOESM1_ESM.xlsx, sheet 7
• 12931_2020_1314_MOESM1_ESM.xlsx, sheet 8

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Replication-Based Rearrangements Are a Common Mechanism for SNCA Duplication in Parkinson's Disease.

Movement Disorders : Official Journal Of The Movement Disorder Society

Seo, Soo Hyun SH; Bacolla, Albino A; Yoo, Dallah D; Koo, Yoon Jung YJ; Cho, Sung Im SI; Kim, Man Jin MJ; Seong, Moon-Woo MW; Kim, Han-Joon HJ; Kim, Jong-Min JM; Tainer, John A JA; Park, Sung Sup SS; Kim, Ji Yeon JY; Jeon, Beomseok B

Publication Date: 2020-05

Variant appearance in text: rs10005233

PubMed Link: 32039503

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs10005233

PubMed Link: 31976583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common genetic variants associated with Parkinson's disease display widespread signature of epigenetic plasticity.

Scientific Reports

Sharma, Amit A; Osato, Naoki N; Liu, Hongde H; Asthana, Shailendra S; Dakal, Tikam Chand TC; Ambrosini, Giovanna G; Bucher, Philipp P; Schmitt, Ina I; Wüllner, Ullrich U

Publication Date: 2019-12-05

Variant appearance in text: rs10005233

PubMed Link: 31804560

Variant Present in the following documents:

• 41598_2019_Article_54865.pdf

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The Landscape of SNCA Transcripts Across Synucleinopathies: New Insights From Long Reads Sequencing Analysis.

Frontiers In Genetics

Tseng, Elizabeth E; Rowell, William J WJ; Glenn, Omolara-Chinue OC; Hon, Ting T; Barrera, Julio J; Kujawa, Steve S; Chiba-Falek, Ornit O

Publication Date: 2019

Variant appearance in text: rs10005233

PubMed Link: 31338105

Variant Present in the following documents:

• Main text
• fgene-10-00584.pdf

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: SNCA: 306+66G>A; rs10005233

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Item-level analyses reveal genetic heterogeneity in neuroticism.

Nature Communications

Nagel, Mats M; Watanabe, Kyoko K; Stringer, Sven S; Posthuma, Danielle D; van der Sluis, Sophie S

Publication Date: 2018-03-02

Variant appearance in text: rs10005233

PubMed Link: 29500382

Variant Present in the following documents:

• 41467_2018_3242_MOESM2_ESM.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs10005233

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Alpha-synuclein (SNCA) polymorphisms exert protective effects on memory after mild traumatic brain injury.

Neuroscience Letters

Shee, Kevin K; Lucas, Alexandra A; Flashman, Laura A LA; Nho, Kwangsik K; Tsongalis, Gregory J GJ; McDonald, Brenna C BC; Saykin, Andrew J AJ; McAllister, Thomas W TW; Rhodes, C Harker CH

Publication Date: 2016-09-06

Variant appearance in text: rs10005233

PubMed Link: 27478013

Variant Present in the following documents:

• Main text

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Genetic variation in the alpha synuclein gene (SNCA) is associated with BOLD response to alcohol cues.

Journal Of Studies On Alcohol And Drugs

Wilcox, Claire E CE; Claus, Eric D ED; Blaine, Sara K SK; Morgan, Marilee M; Hutchison, Kent E KE

Publication Date: 2013-03

Variant appearance in text: rs10005233

PubMed Link: 23384371

Variant Present in the following documents:

• Main text

View BVdb publication page

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