Publications:

---

Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: rs41303501

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

---

Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene

Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M

Publication Date: 2022-06

Variant appearance in text: rs41303501

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

View BVdb publication page

---

Common and rare variants in patients with early onset drusen maculopathy.

Clinical Genetics

de Breuk, Anita A; Lechanteur, Yara T E YTE; Astuti, Galuh G; Galbany, Jordi Corominas JC; Klaver, Caroline C W CCW; Hoyng, Carel B CB; den Hollander, Anneke I AI

Publication Date: 2022-11

Variant appearance in text: TFR2: 1364G>A; Arg455Gln

PubMed Link: 36053979

Variant Present in the following documents:

• CGE-102-414-s006.xlsx, sheet 1

View BVdb publication page

---

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: TFR2: 1364G>A; rs41303501

PubMed Link: 35495172

Variant Present in the following documents:

• DataSheet1.xlsx, sheet 3

View BVdb publication page

---

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

---

New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Genes

Hernández, Gonzalo G; Ferrer-Cortès, Xenia X; Venturi, Veronica V; Musri, Melina M; Pilquil, Martin Floor MF; Torres, Pau Marc Muñoz PMM; Rodríguez, Ines Hernandez IH; Mínguez, Maria Àngels Ruiz MÀR; Kelleher, Nicholas J NJ; Pelucchi, Sara S; Piperno, Alberto A; Alberca, Esther Plensa EP; Ricós, Georgina Gener GG; Giró, Eloi Cañamero EC; Pérez-Montero, Santiago S; Tornador, Cristian C; Villà-Freixa, Jordi J; Sánchez, Mayka M

Publication Date: 2021-12-13

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

---

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Genes

Ravasi, Giulia G; Pelucchi, Sara S; Bertola, Francesca F; Capelletti, Martina Maria MM; Mariani, Raffaella R; Piperno, Alberto A

Publication Date: 2021-11-09

Variant appearance in text: TFR2: 1364G>A; Arg455Gln; rs41303501

PubMed Link: 34828384

Variant Present in the following documents:

• Main text
• genes-12-01778.pdf

View BVdb publication page

---

Appropriate Clinical Genetic Testing of Hemochromatosis Type 2-4, Including Ferroportin Disease.

The Application Of Clinical Genetics

Kowdley, Devan S DS; Kowdley, Kris V KV

Publication Date: 2021

Variant appearance in text: TFR2: R455Q

PubMed Link: 34413666

Variant Present in the following documents:

• tacg-14-353.pdf

View BVdb publication page

---

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: TFR2: 1364G>A

PubMed Link: 33170376

Variant Present in the following documents:

• 10072_2020_4876_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis

Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M

Publication Date: 2020-11-09

Variant appearance in text: rs41303501

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

View BVdb publication page

---

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports

Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z

Publication Date: 2018-10-30

Variant appearance in text: TFR2: R455Q; rs41303501

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TFR2: 1364G>A; Arg455Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: TFR2: R455Q; rs41303501

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 8

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: TFR2: 1364G>A; R455Q; rs41303501

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

---

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: rs41303501

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Molecular Genetics & Genomic Medicine

Joshi, Ricky R; Shvartsman, Maya M; Morán, Erica E; Lois, Sergi S; Aranda, Jessica J; Barqué, Anna A; de la Cruz, Xavier X; Bruguera, Miquel M; Vagace, José Manuel JM; Gervasini, Guillermo G; Sanz, Cristina C; Sánchez, Mayka M

Publication Date: 2015-05

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 26029709

Variant Present in the following documents:

• Main text
• mgg30003-0221.pdf

View BVdb publication page

---

Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: TFR2: R455Q; rs41303501

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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: rs41303501

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

---

Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: TFR2: R455Q

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

---

Non-HFE hemochromatosis.

Revista Brasileira De Hematologia E Hemoterapia

Santos, Paulo Caleb Júnior de Lima PC; Dinardo, Carla Luana CL; Cançado, Rodolfo Delfini RD; Schettert, Isolmar Tadeu IT; Krieger, José Eduardo JE; Pereira, Alexandre Costa AC

Publication Date: 2012

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 23049448

Variant Present in the following documents:

• Main text
• rbhh-34-311.pdf

View BVdb publication page

---

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

---

Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences

Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC

Publication Date: 2012

Variant appearance in text: TFR2: Arg455Gln

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

---