Publications:

---

Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.

Hepatology International

Crawford, Darrell H G DHG; Ramm, Grant A GA; Bridle, Kim R KR; Nicoll, Amanda J AJ; Delatycki, Martin B MB; Olynyk, John K JK

Publication Date: 2023-04-17

Variant appearance in text: HFE: Y231del

PubMed Link: 37067673

Variant Present in the following documents:

• Main text
• 12072_2023_Article_10510.pdf

View BVdb publication page

---

The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: HFE: 691_693delTAC; Tyr231del

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

---

A 10-year Follow-up Study of a Japanese Family with Ferroportin Disease A: Mild Iron Overload with Mild Hyperferritinemia Co-occurring with Hyperhepcidinemia May Be Benign.

Internal Medicine (Tokyo, Japan)

Hayashi, Hisao H; Yano, Motoyoshi M; Urawa, Naohito N; Mizutani, Akane A; Hamaoka, Shima S; Araki, Jun J; Kojima, Yuji Y; Naito, Yutaka Y; Kato, Ayako A; Tatsumi, Yasuaki Y; Kato, Koichi K

Publication Date: 2018-10-01

Variant appearance in text: HFE: Y231del

PubMed Link: 29780118

Variant Present in the following documents:

• 1349-7235-57-2865.pdf

View BVdb publication page

---

Pathophysiological consequences and benefits of HFE mutations: 20 years of research.

Haematologica

Hollerer, Ina I; Bachmann, André A; Muckenthaler, Martina U MU

Publication Date: 2017-05

Variant appearance in text: HFE: Y231del

PubMed Link: 28280078

Variant Present in the following documents:

• Main text
• 1020809.pdf

View BVdb publication page

---

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: HFE: 686_688delACT; Y231delY

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

---

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: Y231del

PubMed Link: 23018356

Variant Present in the following documents:

• medscimonit-18-10-cr622.pdf

View BVdb publication page

---