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: 314T>C; Ile105Thr

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: rs28934596

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

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Engineering Peptide Inhibitors of the HFE-Transferrin Receptor 1 Complex.

Molecules (Basel, Switzerland)

Goncalves Monteiro, Daniela D; Rishi, Gautam G; Gorman, Declan M DM; Burnet, Guillaume G; Aliyanto, Randy R; Rosengren, K Johan KJ; Frazer, David M DM; Subramaniam, V Nathan VN; Clark, Richard J RJ

Publication Date: 2022-10-04

Variant appearance in text: HFE: I105T

PubMed Link: 36235117

Variant Present in the following documents:

• molecules-27-06581.pdf

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Iron overload phenotypes and HFE genotypes in white hemochromatosis and iron overload screening study participants without HFE p.C282Y/p.C282Y.

Plos One

Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT

Publication Date: 2022

Variant appearance in text: HFE: 314T>C; I105T

PubMed Link: 35895739

Variant Present in the following documents:

• Main text
• pone.0271973.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: HFE: 314T>C; Ile105Thr; rs28934596

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs28934596

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: HFE: 314T>C; Ile105Thr

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Diabetes in HFE Hemochromatosis.

Journal Of Diabetes Research

Barton, James C JC; Acton, Ronald T RT

Publication Date: 2017

Variant appearance in text: HFE: I105T

PubMed Link: 28331855

Variant Present in the following documents:

• Main text
• JDR2017-9826930.pdf

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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: HFE: I105T; rs28934596

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: I105T

PubMed Link: 26456104

Variant Present in the following documents:

• Main text

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: HFE: I105T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: rs28934596

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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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: HFE: Ile105Thr

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

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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: HFE: Ile105Thr

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

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HFE gene in primary and secondary hepatic iron overload.

World Journal Of Gastroenterology

Sebastiani, Giada G; Walker, Ann-P AP

Publication Date: 2007-09-21

Variant appearance in text: HFE: I105T

PubMed Link: 17729389

Variant Present in the following documents:

• Main text

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Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.

Gut

Holmström, P P; Marmur, J J; Eggertsen, G G; Gåfvels, M M; Stål, P P

Publication Date: 2002-11

Variant appearance in text: HFE: I105T

PubMed Link: 12377814

Variant Present in the following documents:

• Main text

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HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

Bmc Medical Genetics

Barton, James C JC; Acton, Ronald T RT

Publication Date: 2002-10-07

Variant appearance in text: HFE: I105T

PubMed Link: 12370085

Variant Present in the following documents:

• Main text
• 1471-2350-3-9.pdf

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