Publications:

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Frontiers In Genetics

Aguiar, Talita T; Teixeira, Anne A; Scliar, Marília O MO; Sobral de Barros, Juliana J; Lemes, Renan B RB; Souza, Silvia S; Tolezano, Giovanna G; Santos, Fernanda F; Tojal, Israel I; Cypriano, Monica M; Caminada de Toledo, Silvia Regina SR; Valadares, Eugênia E; Borges Pinto, Raquel R; Pinto Artigalas, Osvaldo Afonso OA; Caetano de Aguirre Neto, Joaquim J; Novak, Estela E; Cristofani, Lilian Maria LM; Miura Sugayama, Sofia M SM; Odone, Vicente V; Cunha, Isabela Werneck IW; Lima da Costa, Cecilia Maria CM; Rosenberg, Carla C; Krepischi, Ana A

Publication Date: 2022

Variant appearance in text: DISC1: 1295C>T; rs78792190

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

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Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Neurological Sciences : Official Journal Of The Italian Neurological Society And Of The Italian Society Of Clinical Neurophysiology

Machnicki, Marcin M MM; Guglielmi, Valeria V; Pancheri, Elia E; Gualandi, Francesca F; Verriello, Lorenzo L; Pruszczyk, Katarzyna K; Kosinska, Joanna J; Sangalli, Antonella A; Rydzanicz, Malgorzata M; Romanelli, Maria Grazia MG; Neri, Marcella M; Ploski, Rafal R; Tonin, Paola P; Tomelleri, Giuliano G; Stoklosa, Tomasz T; Vattemi, Gaetano G

Publication Date: 2021-07

Variant appearance in text: DISC1: 1268+17090C>T; Pro432Leu

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: DISC1: 1295C>T; P432L; rs78792190

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits.

Molecular Psychiatry

Thomson, P A PA; Parla, J S JS; McRae, A F AF; Kramer, M M; Ramakrishnan, K K; Yao, J J; Soares, D C DC; McCarthy, S S; Morris, S W SW; Cardone, L L; Cass, S S; Ghiban, E E; Hennah, W W; Evans, K L KL; Rebolini, D D; Millar, J K JK; Harris, S E SE; Starr, J M JM; MacIntyre, D J DJ; , ; McIntosh, A M AM; Watson, J D JD; Deary, I J IJ; Visscher, P M PM; Blackwood, D H DH; McCombie, W R WR; Porteous, D J DJ

Publication Date: 2014-06

Variant appearance in text: DISC1: P432L; rs78792190

PubMed Link: 23732877

Variant Present in the following documents:

• mp201368x3.pdf

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DISC1 variants 37W and 607F disrupt its nuclear targeting and regulatory role in ATF4-mediated transcription.

Human Molecular Genetics

Malavasi, Elise L V EL; Ogawa, Fumiaki F; Porteous, David J DJ; Millar, J Kirsty JK

Publication Date: 2012-06-15

Variant appearance in text: DISC1: P432L

PubMed Link: 22422769

Variant Present in the following documents:

• Main text
• dds106.pdf

View BVdb publication page