Publications:

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Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity.

Nature Genetics

Mangiante, Lise L; Alcala, Nicolas N; Sexton-Oates, Alexandra A; Di Genova, Alex A; Gonzalez-Perez, Abel A; Khandekar, Azhar A; Bergstrom, Erik N EN; Kim, Jaehee J; Liu, Xiran X; Blazquez-Encinas, Ricardo R; Giacobi, Colin C; Le Stang, Nolwenn N; Boyault, Sandrine S; Cuenin, Cyrille C; Tabone-Eglinger, Severine S; Damiola, Francesca F; Voegele, Catherine C; Ardin, Maude M; Michallet, Marie-Cecile MC; Soudade, Lorraine L; Delhomme, Tiffany M TM; Poret, Arnaud A; Brevet, Marie M; Copin, Marie-Christine MC; Giusiano-Courcambeck, Sophie S; Damotte, Diane D; Girard, Cecile C; Hofman, Veronique V; Hofman, Paul P; Mouroux, Jérôme J; Cohen, Charlotte C; Lacomme, Stephanie S; Mazieres, Julien J; de Montpreville, Vincent Thomas VT; Perrin, Corinne C; Planchard, Gaetane G; Rousseau, Nathalie N; Rouquette, Isabelle I; Sagan, Christine C; Scherpereel, Arnaud A; Thivolet, Francoise F; Vignaud, Jean-Michel JM; Jean, Didier D; Ilg, Anabelle Gilg Soit AGS; Olaso, Robert R; Meyer, Vincent V; Boland-Auge, Anne A; Deleuze, Jean-Francois JF; Altmuller, Janine J; Nuernberg, Peter P; Ibáñez-Costa, Alejandro A; Castaño, Justo P JP; Lantuejoul, Sylvie S; Ghantous, Akram A; Maussion, Charles C; Courtiol, Pierre P; Hernandez-Vargas, Hector H; Caux, Christophe C; Girard, Nicolas N; Lopez-Bigas, Nuria N; Alexandrov, Ludmil B LB; Galateau-Salle, Françoise F; Foll, Matthieu M; Fernandez-Cuesta, Lynnette L

Publication Date: 2023-03-16

Variant appearance in text: NPC1: I1094T

PubMed Link: 36928603

Variant Present in the following documents:

• 41588_2023_1321_MOESM4_ESM.xlsx, sheet 44

View BVdb publication page

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3281T>C; I1094T

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Correlation of age of onset and clinical severity in Niemann-Pick disease type C1 with lysosomal abnormalities and gene expression.

Scientific Reports

Baxter, Laura L LL; Watkins-Chow, Dawn E DE; Johnson, Nicholas L NL; Farhat, Nicole Y NY; Platt, Frances M FM; Dale, Ryan K RK; Porter, Forbes D FD; Pavan, William J WJ; Rodriguez-Gil, Jorge L JL

Publication Date: 2022-02-09

Variant appearance in text: NPC1: 3281T>C; I1094T

PubMed Link: 35140266

Variant Present in the following documents:

• Main text
• 41598_2022_Article_6112.pdf

View BVdb publication page

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Signatures of natural selection and ethnic-specific prevalence of NPC1 pathogenic mutations contributing to obesity and Niemann-Pick disease type C1.

Scientific Reports

Chiorean, Andreea A; Garver, William S WS; Meyre, David D

Publication Date: 2020-11-02

Variant appearance in text: rs1338658857

PubMed Link: 33139814

Variant Present in the following documents:

• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 3
• 41598_2020_75919_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.

Febs Letters

Mazzacuva, Francesca F; Mills, Philippa P; Mills, Kevin K; Camuzeaux, Stephane S; Gissen, Paul P; Nicoli, Elena-Raluca ER; Wassif, Christopher C; Te Vruchte, Danielle D; Porter, Forbes D FD; Maekawa, Masamitsu M; Mano, Nariyasu N; Iida, Takashi T; Platt, Frances F; Clayton, Peter T PT

Publication Date: 2016-06

Variant appearance in text: NPC1: I1094T

PubMed Link: 27139891

Variant Present in the following documents:

• FEB2-590-1651-s001.pdf

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: NPC1: I1094T

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NPC1: I1094T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study.

Orphanet Journal Of Rare Diseases

Abela, Lucia L; Plecko, Barbara B; Palla, Antonella A; Burda, Patricie P; Nuoffer, Jean-Marc JM; Ballhausen, Diana D; Rohrbach, Marianne M

Publication Date: 2014-11-26

Variant appearance in text: NPC1: Ile1094Thr

PubMed Link: 25425405

Variant Present in the following documents:

• Main text
• 13023_2014_Article_176.pdf

View BVdb publication page

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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators.

Orphanet Journal Of Rare Diseases

Stampfer, Miriam M; Theiss, Susanne S; Amraoui, Yasmina Y; Jiang, Xuntian X; Keller, Sigrid S; Ory, Daniel S DS; Mengel, Eugen E; Fischer, Christine C; Runz, Heiko H

Publication Date: 2013-02-22

Variant appearance in text: NPC1: I1094T

PubMed Link: 23433426

Variant Present in the following documents:

• 1750-1172-8-35.pdf

View BVdb publication page

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