Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PDGFB: 445C>T; Arg149Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Frontiers In Oncology

Oliver, Javier J; Quezada Urban, Rosalía R; Franco Cortés, Claudia Alejandra CA; Díaz Velásquez, Clara Estela CE; Montealegre Paez, Ana Lorena AL; Pacheco-Orozco, Rafael Adrián RA; Castro Rojas, Carlos C; García-Robles, Reggie R; López Rivera, Juan Javier JJ; Gaitán Chaparro, Sandra S; Gómez, Ana Milena AM; Suarez Obando, Fernando F; Giraldo, Gustavo G; Maya, Maria Isabel MI; Hurtado-Villa, Paula P; Sanchez, Ana Isabel AI; Serrano, Norma N; Orduz Galvis, Ana Isabel AI; Aruachan, Sandra S; Nuñez Castillo, Johanna J; Frecha, Cecilia C; Riggi, Cecilia C; Jauk, Federico F; Gómez García, Eva María EM; Carranza, Claudia Lorena CL; Zamora, Vanessa V; Torres Mejía, Gabriela G; Romieu, Isabelle I; Castañeda, Carlos Arturo CA; Castillo, Miluska M; Gitler, Rina R; Antoniano, Adriana A; Rojas Jiménez, Ernesto E; Romero Cruz, Luis Enrique LE; Vallejo Lecuona, Fernando F; Delgado Enciso, Iván I; Martínez Rizo, Abril Bernardette AB; Flores Carranza, Alejandro A; Benites Godinez, Verónica V; Méndez Catalá, Claudia Fabiola CF; Herrera, Luis Alonso LA; Chirino, Yolanda Irasema YI; Terrazas, Luis Ignacio LI; Perdomo, Sandra S; Vaca Paniagua, Felipe F

Publication Date: 2019

Variant appearance in text: PDGFB: R149X

PubMed Link: 31921681

Variant Present in the following documents:

• Main text

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Primary brain calcification: an international study reporting novel variants and associated phenotypes.

European Journal Of Human Genetics : Ejhg

Ramos, Eliana Marisa EM; Carecchio, Miryam M; Lemos, Roberta R; Ferreira, Joana J; Legati, Andrea A; Sears, Renee Louise RL; Hsu, Sandy Chan SC; Panteghini, Celeste C; Magistrelli, Luca L; Salsano, Ettore E; Esposito, Silvia S; Taroni, Franco F; Richard, Anne-Claire AC; Tranchant, Christine C; Anheim, Mathieu M; Ayrignac, Xavier X; Goizet, Cyril C; Vidailhet, Marie M; Maltete, David D; Wallon, David D; Frebourg, Thierry T; Pimentel, Lylyan L; Geschwind, Daniel H DH; Vanakker, Olivier O; Galasko, Douglas D; Fogel, Brent L BL; Innes, A Micheil AM; Ross, Alison A; Dobyns, William B WB; Alcantara, Diana D; O'Driscoll, Mark M; Hannequin, Didier D; Campion, Dominique D; , ; Oliveira, João R JR; Garavaglia, Barbara B; Coppola, Giovanni G; Nicolas, Gaël G

Publication Date: 2018-10

Variant appearance in text: PDGFB: 445C>T; Arg149Ter

PubMed Link: 29955172

Variant Present in the following documents:

• Main text

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Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Scientific Reports

Koyama, Shingo S; Sato, Hidenori H; Kobayashi, Ryota R; Kawakatsu, Shinobu S; Kurimura, Masayuki M; Wada, Manabu M; Kawanami, Toru T; Kato, Takeo T

Publication Date: 2017-09-21

Variant appearance in text: PDGFB: Arg149*

PubMed Link: 28935882

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11595.pdf

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Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Neurology. Genetics

Paucar, Martin M; Almqvist, Håkan H; Saeed, Ahmed A; Bergendal, Gösta G; Ygge, Jan J; Holmin, Staffan S; Björkhem, Ingemar I; Svenningsson, Per P

Publication Date: 2016-08

Variant appearance in text: PDGFB: 445C>T

PubMed Link: 27433546

Variant Present in the following documents:

• supp_2.4.e84_Tables_e-1-e-11.pdf

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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Plos One

Vanlandewijck, Michael M; Lebouvier, Thibaud T; Andaloussi Mäe, Maarja M; Nahar, Khayrun K; Hornemann, Simone S; Kenkel, David D; Cunha, Sara I SI; Lennartsson, Johan J; Boss, Andreas A; Heldin, Carl-Henrik CH; Keller, Annika A; Betsholtz, Christer C

Publication Date: 2015

Variant appearance in text: PDGFB: 445C>T; R149*

PubMed Link: 26599395

Variant Present in the following documents:

• Main text
• pone.0143407.pdf

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A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia.

European Journal Of Human Genetics : Ejhg

Nicolas, Gaël G; Jacquin, Agnès A; Thauvin-Robinet, Christel C; Rovelet-Lecrux, Anne A; Rouaud, Olivier O; Pottier, Cyril C; Aubriot-Lorton, Marie-Hélène MH; Rousseau, Stéphane S; Wallon, David D; Duvillard, Christian C; Béjot, Yannick Y; Frébourg, Thierry T; Giroud, Maurice M; Campion, Dominique D; Hannequin, Didier D

Publication Date: 2014-10

Variant appearance in text: PDGFB: 445C>T; Arg149*

PubMed Link: 24518837

Variant Present in the following documents:

• Main text

View BVdb publication page

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