Publications:

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Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset.

Brain : A Journal Of Neurology

Trinh, Joanne J; Lüth, Theresa T; Schaake, Susen S; Laabs, Björn-Hergen BH; Schlüter, Kathleen K; Laβ, Joshua J; Pozojevic, Jelena J; Tse, Ronnie R; König, Inke I; Dominic Jamora, Roland R; Rosales, Raymond L RL; Brüggemann, Norbert N; Saranza, Gerard G; Diesta, Cid Czarina E CCE; Kaiser, Frank J FJ; Depienne, Christel C; Pearson, Christopher E CE; Westenberger, Ana A; Klein, Christine C

Publication Date: 2022-04-27

Variant appearance in text: rs33003

PubMed Link: 35481544

Variant Present in the following documents:

• Main text
• awac160.pdf

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The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

International Journal Of Molecular Sciences

Diez-Fairen, Monica M; Alvarez Jerez, Pilar P; Berghausen, Joos J; Bandres-Ciga, Sara S

Publication Date: 2021-07-28

Variant appearance in text: rs33003

PubMed Link: 34360863

Variant Present in the following documents:

• Main text
• ijms-22-08100.pdf

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Identifying genetic modifiers of age-associated penetrance in X-linked dystonia-parkinsonism.

Nature Communications

Laabs, Björn-Hergen BH; Klein, Christine C; Pozojevic, Jelena J; Domingo, Aloysius A; Brüggemann, Norbert N; Grütz, Karen K; Rosales, Raymond L RL; Jamora, Roland Dominic RD; Saranza, Gerard G; Diesta, Cid Czarina E CCE; Wittig, Michael M; Schaake, Susen S; Dulovic-Mahlow, Marija M; Quismundo, Jana J; Otto, Pia P; Acuna, Patrick P; Go, Criscely C; Sharma, Nutan N; Multhaupt-Buell, Trisha T; Müller, Ulrich U; Hanssen, Henrike H; Kilpert, Fabian F; Franke, Andre A; Rolfs, Arndt A; Bauer, Peter P; Dobričić, Valerija V; Lohmann, Katja K; Ozelius, Laurie J LJ; Kaiser, Frank J FJ; König, Inke R IR; Westenberger, Ana A

Publication Date: 2021-05-28

Variant appearance in text: rs33003

PubMed Link: 34050153

Variant Present in the following documents:

• Main text
• 41467_2021_Article_23491.pdf
• 41467_2021_23491_MOESM2_ESM.pdf
• 41467_2021_23491_MOESM1_ESM.pdf

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DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.

International Journal Of Molecular Sciences

Caja, Fabian F; Vodickova, Ludmila L; Kral, Jan J; Vymetalkova, Veronika V; Naccarati, Alessio A; Vodicka, Pavel P

Publication Date: 2020-08-03

Variant appearance in text: MSH3: 3303-436A>G; rs33003

PubMed Link: 32756484

Variant Present in the following documents:

• Main text
• ijms-21-05561.pdf

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A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study.

Cerebellum (London, England)

Strupp, Michael M; Maul, Stephan S; Konte, Bettina B; Hartmann, Annette M AM; Giegling, Ina I; Wollenteit, Sophia S; Feil, Katharina K; Rujescu, Dan D

Publication Date: 2020-06

Variant appearance in text: rs33003

PubMed Link: 32157568

Variant Present in the following documents:

• Main text
• 12311_2020_Article_1113.pdf

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Non-Hodgkin lymphoma risk and variants in genes controlling lymphocyte development.

Plos One

Schuetz, Johanna M JM; Daley, Denise D; Leach, Stephen S; Conde, Lucia L; Berry, Brian R BR; Gallagher, Richard P RP; Connors, Joseph M JM; Gascoyne, Randy D RD; Bracci, Paige M PM; Skibola, Christine F CF; Spinelli, John J JJ; Brooks-Wilson, Angela R AR

Publication Date: 2013

Variant appearance in text: rs33003

PubMed Link: 24098683

Variant Present in the following documents:

• Main text
• pone.0075170.pdf

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Genetic variations and patient-reported quality of life among patients with lung cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Sloan, Jeff A JA; de Andrade, Mariza M; Decker, Paul P; Wampfler, Jason J; Oswold, Curtis C; Clark, Matthew M; Yang, Ping P

Publication Date: 2012-05-10

Variant appearance in text: rs33003

PubMed Link: 22454423

Variant Present in the following documents:

• Main text

View BVdb publication page

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