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: HFE: 502G>T; Glu168Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: HFE: 502G>T; Glu168*

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

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Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

American Journal Of Cancer Research

Schneeweiss-Gleixner, Mathias M; Greiner, Georg G; Herndlhofer, Susanne S; Schellnegger, Julia J; Krauth, Maria-Theresa MT; Gleixner, Karoline V KV; Wimazal, Friedrich F; Steinhauser, Corinna C; Kundi, Michael M; Thalhammer, Renate R; Schwarzinger, Ilse I; Hoermann, Gregor G; Esterbauer, Harald H; Födinger, Manuela M; Valent, Peter P; Sperr, Wolfgang R WR

Publication Date: 2021

Variant appearance in text: HFE: E168X

PubMed Link: 33791166

Variant Present in the following documents:

• Main text

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: HFE: 502G>T; Glu168Ter

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5

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Detection of a rare mutation in the ferroportin gene through targeted next generation sequencing.

Blood Transfusion = Trasfusione Del Sangue

Ferbo, Ludovica L; Manzini, Paola M PM; Badar, Sadaf S; Campostrini, Natascia N; Ferrarini, Alberto A; Delledonne, Massimo M; Francisci, Tiziana T; Tassi, Valter V; Valfrè, Adriano A; Dall'omo, Anna M AM; D'antico, Sergio S; Girelli, Domenico D; Roetto, Antonella A; De Gobbi, Marco M

Publication Date: 2016-11

Variant appearance in text: HFE: E168X

PubMed Link: 27177411

Variant Present in the following documents:

• Main text

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HFE gene: Structure, function, mutations, and associated iron abnormalities.

Gene

Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT

Publication Date: 2015-12-15

Variant appearance in text: HFE: E168X

PubMed Link: 26456104

Variant Present in the following documents:

• Main text

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Molecular basis of HFE-hemochromatosis.

Frontiers In Pharmacology

Vujić, Maja M

Publication Date: 2014

Variant appearance in text: HFE: E168X

PubMed Link: 24653703

Variant Present in the following documents:

• Main text
• fphar-05-00042.pdf

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Lymphocyte subsets in alcoholic liver disease.

World Journal Of Hepatology

Matos, Luís Costa LC; Batista, Paulo P; Monteiro, Nuno N; Ribeiro, João J; Cipriano, Maria A MA; Henriques, Pedro P; Girão, Fernando F; Carvalho, Armando A

Publication Date: 2013-02-27

Variant appearance in text: HFE: E168X

PubMed Link: 23646229

Variant Present in the following documents:

• Main text

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Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Zamani, Farhad F; Bagheri, Zohreh Z; Bayat, Maryam M; Fereshtehnejad, Seyed-Mohammad SM; Basi, Ali A; Najmabadi, Hossein H; Ajdarkosh, Hossein H

Publication Date: 2012-10

Variant appearance in text: HFE: E168X

PubMed Link: 23018356

Variant Present in the following documents:

• Main text
• medscimonit-18-10-cr622.pdf

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Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

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

Chandrasekharan, Subhashini S; Pitlick, Emily E; Heaney, Christopher C; Cook-Deegan, Robert R

Publication Date: 2010-04

Variant appearance in text: HFE: E168X

PubMed Link: 20393306

Variant Present in the following documents:

• Main text

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Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis.

Clinics (Sao Paulo, Brazil)

Bittencourt, Paulo Lisboa PL; Marin, Maria Lúcia Carnevale ML; Couto, Cláudia Alves CA; Cançado, Eduardo Luiz Rachid EL; Carrilho, Flair José FJ; Goldberg, Anna Carla AC

Publication Date: 2009

Variant appearance in text: HFE: E168X

PubMed Link: 19759876

Variant Present in the following documents:

• Main text

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Association of hepcidin promoter c.-582 A>G variant and iron overload in thalassemia major.

Haematologica

Andreani, Marco M; Radio, Francesca Clementina FC; Testi, Manuela M; De Bernardo, Carmelilia C; Troiano, Maria M; Majore, Silvia S; Bertucci, Pierfrancesco P; Polchi, Paola P; Rosati, Renata R; Grammatico, Paola P

Publication Date: 2009-09

Variant appearance in text: HFE: E168X

PubMed Link: 19734422

Variant Present in the following documents:

• Main text

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Hyperferritinemia is a risk factor for steatosis in chronic liver disease.

World Journal Of Gastroenterology

Licata, Anna A; Nebbia, Maria Elena ME; Cabibbo, Giuseppe G; Iacono, Giovanna Lo GL; Barbaria, Francesco F; Brucato, Virna V; Alessi, Nicola N; Porrovecchio, Salvatore S; Di Marco, Vito V; Craxì, Antonio A; Cammà, Calogero C

Publication Date: 2009-05-07

Variant appearance in text: HFE: E168X

PubMed Link: 19418586

Variant Present in the following documents:

• Main text

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Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay.

Bmc Medical Genetics

Cukjati, Marko M; Vaupotic, Tomaz T; Rupreht, Ruth R; Curin-Serbec, Vladka V

Publication Date: 2007-11-23

Variant appearance in text: HFE: E168X

PubMed Link: 18036208

Variant Present in the following documents:

• 1471-2350-8-69.pdf

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Heterozygous beta-globin gene mutations as a risk factor for iron accumulation and liver fibrosis in chronic hepatitis C.

Gut

Sartori, Massimo M; Andorno, Silvano S; Pagliarulo, Michela M; Rigamonti, Cristina C; Bozzola, Cristina C; Pergolini, Patrizia P; Rolla, Roberta R; Suno, Anna A; Boldorini, Renzo R; Bellomo, Giorgio G; Albano, Emanuele E

Publication Date: 2007-05

Variant appearance in text: HFE: E168X

PubMed Link: 17135308

Variant Present in the following documents:

• Main text

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