Publications:

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An interesting case of progressive dyspnoea and diffuse mediastinal adenopathy in a 25-year-old man.

Breathe (Sheffield, England)

Cullivan, Sarah S; Morris, Joseph J; McCormack, Ciara C; Alameeri, Amel A; Gaine, Sean P SP; McCullagh, Brian B

Publication Date: 2021-03

Variant appearance in text: EIF2AK4: 3766C>T; Arg1256*

PubMed Link: 34295399

Variant Present in the following documents:

• Main text
• EDU-0289-2020.pdf

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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: EIF2AK4: R1256X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension.

Genes

Castaño, Jair Antonio Tenorio JAT; Hernández-Gonzalez, Ignacio I; Gallego, Natalia N; Pérez-Olivares, Carmen C; Ochoa Parra, Nuria N; Arias, Pedro P; Granda, Elena E; Acebo, Gonzalo Gómez GG; Lago-Docampo, Mauro M; Palomino-Doza, Julian J; López Meseguer, Manuel M; Del Cerro, María Jesús MJ; Pah Consortium, Spanish S; Valverde, Diana D; Lapunzina, Pablo P; Escribano-Subías, Pilar P

Publication Date: 2020-09-30

Variant appearance in text: EIF2AK4: 3766C>T; Arg1256*

PubMed Link: 33007923

Variant Present in the following documents:

• Main text
• genes-11-01158.pdf

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A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica.

Bmc Pulmonary Medicine

Yeo, Chang Dong CD; Han, Deokjae D; Lee, Jongmin J; Chung, Woo-Baek WB; Jung, Jung Im JI; Lee, Kyo-Young KY; Kim, Tae-Jung TJ; Jang, Woori W; Kim, Myungshin M; Kang, Ji Young JY

Publication Date: 2019-07-23

Variant appearance in text: EIF2AK4: 3766C>T

PubMed Link: 31337372

Variant Present in the following documents:

• Main text
• 12890_2019_Article_896.pdf

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: EIF2AK4: R1256*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 32

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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: EIF2AK4: R1256X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Exome Sequencing in Children With Pulmonary Arterial Hypertension Demonstrates Differences Compared With Adults.

Circulation. Genomic And Precision Medicine

Zhu, Na N; Gonzaga-Jauregui, Claudia C; Welch, Carrie L CL; Ma, Lijiang L; Qi, Hongjian H; King, Alejandra K AK; Krishnan, Usha U; Rosenzweig, Erika B EB; Ivy, D Dunbar DD; Austin, Eric D ED; Hamid, Rizwan R; Nichols, William C WC; Pauciulo, Michael W MW; Lutz, Katie A KA; Sawle, Ashley A; Reid, Jeffrey G JG; Overton, John D JD; Baras, Aris A; Dewey, Frederick F; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2018-04

Variant appearance in text: EIF2AK4: R1256X

PubMed Link: 29631995

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: EIF2AK4: 3766C>T; R1256*

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

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Pulmonary capillary hemangiomatosis: a focus on the EIF2AK4 mutation in onset and pathogenesis.

The Application Of Clinical Genetics

Ma, Lijiang L; Bao, Ruijun R

Publication Date: 2015

Variant appearance in text: EIF2AK4: 3766C>T; Arg1256X

PubMed Link: 26300654

Variant Present in the following documents:

• Main text
• tacg-8-181.pdf

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EIF2AK4 mutations in pulmonary capillary hemangiomatosis.

Chest

Best, D Hunter DH; Sumner, Kelli L KL; Austin, Eric D ED; Chung, Wendy K WK; Brown, Lynette M LM; Borczuk, Alain C AC; Rosenzweig, Erika B EB; Bayrak-Toydemir, Pinar P; Mao, Rong R; Cahill, Barbara C BC; Tazelaar, Henry D HD; Leslie, Kevin O KO; Hemnes, Anna R AR; Robbins, Ivan M IM; Elliott, C Gregory CG

Publication Date: 2014-02

Variant appearance in text: EIF2AK4: 3766C>T

PubMed Link: 24135949

Variant Present in the following documents:

• Main text

View BVdb publication page

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