Publications:

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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: FAM20A: 826C>T; Arg276Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Cell Death & Disease

Peng, Lin L; Zhao, Min M; Liu, Tianqi T; Chen, Jiangbo J; Gao, Pin P; Chen, Lei L; Xing, Pu P; Wang, Zaozao Z; Di, Jiabo J; Xu, Qiang Q; Qu, Hong H; Jiang, Beihai B; Su, Xiangqian X

Publication Date: 2022-04-22

Variant appearance in text: FAM20A: R276*

PubMed Link: 35459861

Variant Present in the following documents:

• 41419_2022_4844_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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The ABCs of the atypical Fam20 secretory pathway kinases.

The Journal Of Biological Chemistry

Worby, Carolyn A CA; Mayfield, Joshua E JE; Pollak, Adam J AJ; Dixon, Jack E JE; Banerjee, Sourav S

Publication Date: 2021

Variant appearance in text: FAM20A: R276X

PubMed Link: 33759783

Variant Present in the following documents:

• Main text
• main.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: FAM20A: R276X

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: FAM20A: 826C>T; Arg276*; rs387907215

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

View BVdb publication page

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Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding.

Elife

Cui, Jixin J; Zhu, Qinyu Q; Zhang, Hui H; Cianfrocco, Michael A MA; Leschziner, Andres E AE; Dixon, Jack E JE; Xiao, Junyu J

Publication Date: 2017-04-22

Variant appearance in text: FAM20A: R276X

PubMed Link: 28432788

Variant Present in the following documents:

• Main text
• elife-23990.pdf

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Further evidence for causal FAM20A mutations and first case of amelogenesis imperfecta and gingival hyperplasia syndrome in Morocco: a case report.

Bmc Oral Health

Cherkaoui Jaouad, Imane I; El Alloussi, Mustapha M; Chafai El Alaoui, Siham S; Laarabi, Fatima Zahra FZ; Lyahyai, Jaber J; Sefiani, Abdelaziz A

Publication Date: 2015-01-30

Variant appearance in text: FAM20A: 826C>T

PubMed Link: 25636655

Variant Present in the following documents:

• Main text
• 12903_2014_Article_503.pdf

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Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations.

Orphanet Journal Of Rare Diseases

de la Dure-Molla, Muriel M; Quentric, Mickael M; Yamaguti, Paulo Marcio PM; Acevedo, Ana-Carolina AC; Mighell, Alan J AJ; Vikkula, Miikka M; Huckert, Mathilde M; Berdal, Ariane A; Bloch-Zupan, Agnes A

Publication Date: 2014-06-14

Variant appearance in text: FAM20A: 826C>T; Arg276*

PubMed Link: 24927635

Variant Present in the following documents:

• Main text
• 1750-1172-9-84.pdf

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FAM20A mutations can cause enamel-renal syndrome (ERS).

Plos Genetics

Wang, Shih-Kai SK; Aref, Parissa P; Hu, Yuanyuan Y; Milkovich, Rachel N RN; Simmer, James P JP; El-Khateeb, Mohammad M; Daggag, Hinda H; Baqain, Zaid H ZH; Hu, Jan C-C JC

Publication Date: 2013

Variant appearance in text: FAM20A: 826C>T; Arg276*

PubMed Link: 23468644

Variant Present in the following documents:

• Main text
• pgen.1003302.pdf

View BVdb publication page

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