Publications:

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Genetic Variations of ferroportin-1(FPN1-8CG), TMPRSS6 (rs855791) and Hemojuvelin (I222N and G320V) Among a Cohort of Egyptian β-Thalassemia Major Patients.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion

El-Gharbawi, Nesrine N; Shaheen, Iman I; Hamdy, Mona M; Elgawhary, Somaya S; Samir, Mohamed M; Hanna, Baher Matta BM; Ali, Eman Yousief EY; Youssef, Eman Ahmed EA

Publication Date: 2023-04

Variant appearance in text: HJV: I222N

PubMed Link: 37006987

Variant Present in the following documents:

• Main text
• 12288_2022_Article_1580.pdf

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Interpreting Iron Homeostasis in Congenital and Acquired Disorders.

Pharmaceuticals (Basel, Switzerland)

Scaramellini, Natalia N; Fischer, Dania D; Agarvas, Anand R AR; Motta, Irene I; Muckenthaler, Martina U MU; Mertens, Christina C

Publication Date: 2023-02-21

Variant appearance in text: HJV: I222N

PubMed Link: 36986429

Variant Present in the following documents:

• pharmaceuticals-16-00329.pdf

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: HJV: I222N

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

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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: HJV: 665T>A; Ile222Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: rs74315325

PubMed Link: 36479490

Variant Present in the following documents:

• Main text
• jpmh-2022-02-e102.pdf

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: HFE2: I222N; rs74315325

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

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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: HFE2: Ile222Asn

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

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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: HFE2: Ile222Asn

PubMed Link: 34946929

Variant Present in the following documents:

• Main text
• genes-12-01980.pdf

View BVdb publication page

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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: HJV: I222N

PubMed Link: 34413666

Variant Present in the following documents:

• Main text
• tacg-14-353.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: HJV: 665T>A; Ile222Asn; rs74315325

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: rs74315325

PubMed Link: 33170161

Variant Present in the following documents:

• Main text
• ACTA-91-11.pdf

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Juvenile Hemochromatosis: A Case Report and Review of the Literature.

Pharmaceuticals (Basel, Switzerland)

Takami, Akiyoshi A; Tatsumi, Yasuaki Y; Sakai, Katsuhisa K; Toki, Yasumichi Y; Ikuta, Katsuya K; Oohigashi, Yuka Y; Takagi, Junko J; Kato, Koichi K; Takami, Kazuhisa K

Publication Date: 2020-08-15

Variant appearance in text: HJV: I222N

PubMed Link: 32824233

Variant Present in the following documents:

• Main text
• pharmaceuticals-13-00195.pdf

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Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review.

Orphanet Journal Of Rare Diseases

Kong, Xiaomu X; Xie, Lingding L; Zhu, Haiqing H; Song, Lulu L; Xing, Xiaoyan X; Yang, Wenying W; Chen, Xiaoping X

Publication Date: 2019-07-08

Variant appearance in text: HJV: 665T>A; rs74315325

PubMed Link: 31286966

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1097.pdf

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Variation in the repulsive guidance molecule family in human populations.

Physiological Reports

Rotwein, Peter P

Publication Date: 2019-02

Variant appearance in text: HJV: I222N

PubMed Link: 30746893

Variant Present in the following documents:

• Main text
• PHY2-7-e13959.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: HFE2: I222N; rs74315325

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: HFE2A: I222N

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy.

Middle East Journal Of Digestive Diseases

Malekzadeh, Masoud M MM; Radmard, Amir Reza AR; Nouroozi, Alireza A; Akbari, Mohammad Reza MR; Amini, Marzie M; Navabakhsh, Behrooz B; Caleffi, Angela A; Pietrangelo, Antonello A; Malekzadeh, Reza R

Publication Date: 2014-04

Variant appearance in text: HJV: I222N

PubMed Link: 24872867

Variant Present in the following documents:

• mejdd-6-87.pdf

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Hemojuvelin and bone morphogenetic protein (BMP) signaling in iron homeostasis.

Frontiers In Pharmacology

Core, Amanda B AB; Canali, Susanna S; Babitt, Jodie L JL

Publication Date: 2014

Variant appearance in text: HJV: I222N

PubMed Link: 24860505

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: HFE2: 665T>A; rs74315325

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1

View BVdb publication page

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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: HJV: Ile222Asn

PubMed Link: 23049448

Variant Present in the following documents:

• Main text
• rbhh-34-311.pdf

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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: HJV: Ile222Asn

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

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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: HJV: Ile222Asn

PubMed Link: 22408404

Variant Present in the following documents:

• Main text
• ijms-13-01497.pdf

View BVdb publication page

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Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population.

Bmc Medical Genetics

Barton, James C JC; Rivers, Charles A CA; Niyongere, Sandrine S; Bohannon, Sean B SB; Acton, Ronald T RT

Publication Date: 2004-12-20

Variant appearance in text:

PubMed Link: 15610558

Variant Present in the following documents:

• Main text
• 1471-2350-5-29.pdf

View BVdb publication page

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