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: rs7681440

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Association between the LRP1B and APOE loci in the development of Parkinson's disease dementia.

Brain : A Journal Of Neurology

Real, Raquel R; Martinez-Carrasco, Alejandro A; Reynolds, Regina H RH; Lawton, Michael A MA; Tan, Manuela M X MMX; Shoai, Maryam M; Corvol, Jean-Christophe JC; Ryten, Mina M; Bresner, Catherine C; Hubbard, Leon L; Brice, Alexis A; Lesage, Suzanne S; Faouzi, Johann J; Elbaz, Alexis A; Artaud, Fanny F; Williams, Nigel N; Hu, Michele T M MTM; Ben-Shlomo, Yoav Y; Grosset, Donald G DG; Hardy, John J; Morris, Huw R HR

Publication Date: 2022-11-09

Variant appearance in text: rs7681440

PubMed Link: 36348503

Variant Present in the following documents:

• Main text
• awac414.pdf

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Cognitive-Driven Activities of Daily Living Impairment as a Predictor for Dementia in Parkinson Disease: A Longitudinal Cohort Study.

Neurology

Becker, Sara S; Bode, Merle M; Brockmann, Kathrin K; Gasser, Thomas T; Michaelis, Katja K; Solbrig, Susanne S; Nuerk, Hans-Christoph HC; Schulte, Claudia C; Maetzler, Walter W; Zimmermann, Milan M; Berg, Daniela D; Liepelt-Scarfone, Inga I

Publication Date: 2022-09-02

Variant appearance in text: rs7681440

PubMed Link: 36240089

Variant Present in the following documents:

• WNL-2022-201122.pdf

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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: 121+148G>C; rs7681440

PubMed Link: 34456707

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Genetics Contributes to Concomitant Pathology and Clinical Presentation in Dementia with Lewy Bodies.

Journal Of Alzheimer'S Disease : Jad

van der Lee, Sven J SJ; van Steenoven, Inger I; van de Beek, Marleen M; Tesi, Niccolò N; Jansen, Iris E IE; van Schoor, Natasja M NM; Reinders, Marcel J T MJT; Huisman, Martijn M; Scheltens, Philip P; Teunissen, Charlotte E CE; Holstege, Henne H; van der Flier, Wiesje M WM; Lemstra, Afina W AW

Publication Date: 2021

Variant appearance in text: rs7681440

PubMed Link: 34308904

Variant Present in the following documents:

• Main text
• jad-83-jad210365.pdf

View BVdb publication page

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Genetic Architecture and Molecular, Imaging and Prodromic Markers in Dementia with Lewy Bodies: State of the Art, Opportunities and Challenges.

International Journal Of Molecular Sciences

Combi, Romina R; Salsone, Maria M; Villa, Chiara C; Ferini-Strambi, Luigi L

Publication Date: 2021-04-12

Variant appearance in text: rs7681440

PubMed Link: 33921279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic architecture of common non-Alzheimer's disease dementias.

Neurobiology Of Disease

Guerreiro, Rita R; Gibbons, Elizabeth E; Tábuas-Pereira, Miguel M; Kun-Rodrigues, Celia C; Santo, Gustavo C GC; Bras, Jose J

Publication Date: 2020-08

Variant appearance in text: rs7681440

PubMed Link: 32439597

Variant Present in the following documents:

• Main text

View BVdb publication page

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FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Brain And Behavior

Zhou, Binbin B; Wang, Huan H; Cai, Yu Y; Wen, Han H; Wang, Lulu L; Zhu, Min M; Chen, Yunqing Y; Yu, Yanyan Y; Lu, Xi X; Zhou, Meihong M; Fang, Pu P; Li, Xiaobing X; Hong, Daojun D

Publication Date: 2020-06

Variant appearance in text: SNCA: 121+148G>C; rs7681440

PubMed Link: 32307925

Variant Present in the following documents:

• BRB3-10-e01625-s001.xlsx, sheet 1

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: rs7681440

PubMed Link: 31976583

Variant Present in the following documents:

• Main text

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs7681440

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Dementia with Lewy bodies: an update and outlook.

Molecular Neurodegeneration

Outeiro, Tiago Fleming TF; Koss, David J DJ; Erskine, Daniel D; Walker, Lauren L; Kurzawa-Akanbi, Marzena M; Burn, David D; Donaghy, Paul P; Morris, Christopher C; Taylor, John-Paul JP; Thomas, Alan A; Attems, Johannes J; McKeith, Ian I

Publication Date: 2019-01-21

Variant appearance in text: rs7681440

PubMed Link: 30665447

Variant Present in the following documents:

• Main text
• 13024_2019_Article_306.pdf

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: SNCA: 121+148G>C

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 21
• pone.0210079.s007.xlsx, sheet 19
• pone.0210079.s007.xlsx, sheet 18
• pone.0210079.s007.xlsx, sheet 22

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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: 121+148G>C; rs7681440

PubMed Link: 30319441

Variant Present in the following documents:

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

View BVdb publication page

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The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.

Current Neurology And Neuroscience Reports

Orme, Tatiana T; Guerreiro, Rita R; Bras, Jose J

Publication Date: 2018-08-10

Variant appearance in text: rs7681440

PubMed Link: 30097731

Variant Present in the following documents:

• Main text
• 11910_2018_Article_874.pdf

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Investigating the genetic architecture of dementia with Lewy bodies: a two-stage genome-wide association study.

The Lancet. Neurology

Guerreiro, Rita R; Ross, Owen A OA; Kun-Rodrigues, Celia C; Hernandez, Dena G DG; Orme, Tatiana T; Eicher, John D JD; Shepherd, Claire E CE; Parkkinen, Laura L; Darwent, Lee L; Heckman, Michael G MG; Scholz, Sonja W SW; Troncoso, Juan C JC; Pletnikova, Olga O; Ansorge, Olaf O; Clarimon, Jordi J; Lleo, Alberto A; Morenas-Rodriguez, Estrella E; Clark, Lorraine L; Honig, Lawrence S LS; Marder, Karen K; Lemstra, Afina A; Rogaeva, Ekaterina E; St George-Hyslop, Peter P; Londos, Elisabet E; Zetterberg, Henrik H; Barber, Imelda I; Braae, Anne A; Brown, Kristelle K; Morgan, Kevin K; Troakes, Claire C; Al-Sarraj, Safa S; Lashley, Tammaryn T; Holton, Janice J; Compta, Yaroslau Y; Van Deerlin, Vivianna V; Serrano, Geidy E GE; Beach, Thomas G TG; Lesage, Suzanne S; Galasko, Douglas D; Masliah, Eliezer E; Santana, Isabel I; Pastor, Pau P; Diez-Fairen, Monica M; Aguilar, Miquel M; Tienari, Pentti J PJ; Myllykangas, Liisa L; Oinas, Minna M; Revesz, Tamas T; Lees, Andrew A; Boeve, Brad F BF; Petersen, Ronald C RC; Ferman, Tanis J TJ; Escott-Price, Valentina V; Graff-Radford, Neill N; Cairns, Nigel J NJ; Morris, John C JC; Pickering-Brown, Stuart S; Mann, David D; Halliday, Glenda M GM; Hardy, John J; Trojanowski, John Q JQ; Dickson, Dennis W DW; Singleton, Andrew A; Stone, David J DJ; Bras, Jose J

Publication Date: 2018-01

Variant appearance in text: rs7681440

PubMed Link: 29263008

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs7681440

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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