Publications:

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: SLC40A1: A69T

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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Hirschsprung's disease presenting as intractable anemia: a report of two cases and review of the literature.

Bmc Pediatrics

Sun, Xiaoang X; Chu, Jun J; Li, Chenchen C; Deng, Zhaohui Z

Publication Date: 2020-11-16

Variant appearance in text: FPN1: A69T

PubMed Link: 33190630

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2423.pdf

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Reduced iron export associated with hepcidin resistance can explain the iron overload spectrum in ferroportin disease.

Liver International : Official Journal Of The International Association For The Study Of The Liver

Viveiros, André A; Panzer, Marlene M; Baumgartner, Nadja N; Schaefer, Benedikt B; Finkenstedt, Armin A; Henninger, Benjamin B; Theurl, Igor I; Nachbaur, Karin K; Weiss, Günter G; Haubner, Roland R; Decristoforo, Clemens C; Tilg, Herbert H; Zoller, Heinz H

Publication Date: 2020-08

Variant appearance in text: SLC40A1: A69T

PubMed Link: 32450003

Variant Present in the following documents:

• Main text

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Evidence for dimerization of ferroportin in a human hepatic cell line using proximity ligation assays.

Bioscience Reports

Rishi, Gautam G; Secondes, Eriza S ES; Wallace, Daniel F DF; Subramaniam, V Nathan VN

Publication Date: 2020-05-29

Variant appearance in text: SLC40A1: A69T

PubMed Link: 32301493

Variant Present in the following documents:

• bsr-40-bsr20191499.pdf

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Twenty Years of Ferroportin Disease: A Review or An Update of Published Clinical, Biochemical, Molecular, and Functional Features.

Pharmaceuticals (Basel, Switzerland)

Vlasveld, L Tom LT; Janssen, Roel R; Bardou-Jacquet, Edouard E; Venselaar, Hanka H; Hamdi-Roze, Houda H; Drakesmith, Hal H; Swinkels, Dorine W DW

Publication Date: 2019-09-09

Variant appearance in text: FPN1: Ala69Thr

PubMed Link: 31505869

Variant Present in the following documents:

• Main text
• pharmaceuticals-12-00132.pdf

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Ferroportin disease: pathogenesis, diagnosis and treatment.

Haematologica

Pietrangelo, Antonello A

Publication Date: 2017-12

Variant appearance in text: SLC40A1: 205G>A

PubMed Link: 29101207

Variant Present in the following documents:

• 1021972.pdf

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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: SLC40A1: A69T

PubMed Link: 27177411

Variant Present in the following documents:

• Main text

View BVdb publication page

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