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: FTO: 767G>A

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

---

Analysis of coding variants in the human FTO gene from the gnomAD database.

Plos One

Souza Junior, Mauro Lúcio Ferreira MLF; de Sousa, Jaime Viana JV; Guerreiro, João Farias JF

Publication Date: 2022

Variant appearance in text: FTO: Ser256Asn

PubMed Link: 34990463

Variant Present in the following documents:

• Main text
• pone.0248610.pdf

View BVdb publication page

---

Analysis of coding variants in the human FTO gene from the gnomAD database.

Plos One

Souza Junior, Mauro Lúcio Ferreira MLF; de Sousa, Jaime Viana JV; Guerreiro, João Farias JF

Publication Date: 2022

Variant appearance in text: FTO: Ser256Asn

PubMed Link: 34990463

Variant Present in the following documents:

• Main text
• pone.0248610.pdf

View BVdb publication page

---

Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: FTO: 767G>A

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

View BVdb publication page

---

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: FTO: S256N; rs144743617

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

View BVdb publication page

---

Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: FTO: S256N

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

---

Association study of rare nonsynonymous variants of FTO in bipolar disorder.

Psychiatric Genetics

Curtis, Jake A JA; O'Brien, Niamh L NL; Curtis, David D; Fiorentino, Alessia A; McQuillin, Andrew A

Publication Date: 2016-06

Variant appearance in text: rs144743617

PubMed Link: 27105045

Variant Present in the following documents:

• Main text

View BVdb publication page

---

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: FTO: S256N; rs144743617

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: FTO: S256N; rs144743617

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

---

Prevalence of loss-of-function FTO mutations in lean and obese individuals.

Diabetes

Meyre, David D; Proulx, Karine K; Kawagoe-Takaki, Hiroko H; Vatin, Vincent V; Gutiérrez-Aguilar, Ruth R; Lyon, Debbie D; Ma, Marcella M; Choquet, Helene H; Horber, Fritz F; Van Hul, Wim W; Van Gaal, Luc L; Balkau, Beverley B; Visvikis-Siest, Sophie S; Pattou, François F; Farooqi, I Sadaf IS; Saudek, Vladimir V; O'Rahilly, Stephen S; Froguel, Philippe P; Sedgwick, Barbara B; Yeo, Giles S H GS

Publication Date: 2010-01

Variant appearance in text: FTO: S256N

PubMed Link: 19833892

Variant Present in the following documents:

• Main text
• zdb311.pdf

View BVdb publication page

---