Publications:

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: ARL2BP: M45R

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Genes

Cipriani, Valentina V; Pontikos, Nikolas N; Arno, Gavin G; Sergouniotis, Panagiotis I PI; Lenassi, Eva E; Thawong, Penpitcha P; Danis, Daniel D; Michaelides, Michel M; Webster, Andrew R AR; Moore, Anthony T AT; Robinson, Peter N PN; Jacobsen, Julius O B JOB; Smedley, Damian D

Publication Date: 2020-04-23

Variant appearance in text: ARL2BP: 134T>G; Met45Arg

PubMed Link: 32340307

Variant Present in the following documents:

• genes-11-00460-s001.pdf

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ADP-Ribosylation Factor-Like 2 (ARL2) regulates cilia stability and development of outer segments in rod photoreceptor neurons.

Scientific Reports

Wright, Zachary C ZC; Loskutov, Yuriy Y; Murphy, Daniel D; Stoilov, Peter P; Pugacheva, Elena E; Goldberg, Andrew F X AFX; Ramamurthy, Visvanathan V

Publication Date: 2018-11-16

Variant appearance in text: ARL2BP: 134T>G; Met45Arg

PubMed Link: 30446707

Variant Present in the following documents:

• Main text
• 41598_2018_Article_35395.pdf

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Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Molecular Vision

Fiorentino, Alessia A; Yu, Jing J; Arno, Gavin G; Pontikos, Nikolas N; Halford, Stephanie S; Broadgate, Suzanne S; Michaelides, Michel M; Carss, Keren J KJ; Raymond, F Lucy FL; Cheetham, Michael E ME; Webster, Andrew R AR; Downes, Susan M SM; Hardcastle, Alison J AJ; , ; ,

Publication Date: 2018

Variant appearance in text: ARL2BP: 134T>G; Met45Arg

PubMed Link: 30210231

Variant Present in the following documents:

• Main text
• mv-v24-603.pdf

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Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

American Journal Of Human Genetics

Davidson, Alice E AE; Schwarz, Nele N; Zelinger, Lina L; Stern-Schneider, Gabriele G; Shoemark, Amelia A; Spitzbarth, Benjamin B; Gross, Menachem M; Laxer, Uri U; Sosna, Jacob J; Sergouniotis, Panagiotis I PI; Waseem, Naushin H NH; Wilson, Robert R; Kahn, Richard A RA; Plagnol, Vincent V; Wolfrum, Uwe U; Banin, Eyal E; Hardcastle, Alison J AJ; Cheetham, Michael E ME; Sharon, Dror D; Webster, Andrew R AR

Publication Date: 2013-08-08

Variant appearance in text: ARL2BP: 134T>G; M45R

PubMed Link: 23849777

Variant Present in the following documents:

• Main text

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