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: SEC23B: 649C>T; Arg217Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications

Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF

Publication Date: 2022-05-26

Variant appearance in text: SEC23B: 649C>T; R217X; rs121918226

PubMed Link: 35618720

Variant Present in the following documents:

• 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: SEC23B: R217X; rs121918226

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: SEC23B: R217*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Mutations in the coat complex II component SEC23B promote colorectal cancer metastasis.

Cell Death & Disease

Yang, Chunyuan C; Chen, Nan N; Li, Xiang X; Lu, Dan D; Hou, Zhiyuan Z; Li, Yuhua Y; Jin, Yan Y; Gu, Jin J; Yin, Yuxin Y

Publication Date: 2020-03-02

Variant appearance in text: SEC23B: R217X; rs121918226

PubMed Link: 32123160

Variant Present in the following documents:

• 41419_2020_2358_MOESM17_ESM.xlsx, sheet 1

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: SEC23B: 649C>T; Arg217*; rs121918226

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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A case report of congenital erythropoietic anemia II in China with a novel mutation.

Annals Of Hematology

Zhang, Hong H; Wan, Wuqing W; Liu, Xiaoyan X; Wen, Chuan C; Liu, Ying Y; Luo, Senlin S; Sun, Xiao X; Liu, Shizhe S

Publication Date: 2019-04

Variant appearance in text: SEC23B: 649C>T; R217X

PubMed Link: 30747246

Variant Present in the following documents:

• Main text
• 277_2019_Article_3612.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SEC23B: 649C>T; Arg217Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.

American Journal Of Human Genetics

Yehia, Lamis L; Niazi, Farshad F; Ni, Ying Y; Ngeow, Joanne J; Sankunny, Madhav M; Liu, Zhigang Z; Wei, Wei W; Mester, Jessica L JL; Keri, Ruth A RA; Zhang, Bin B; Eng, Charis C

Publication Date: 2015-11-05

Variant appearance in text: SEC23B: 649C>T

PubMed Link: 26522472

Variant Present in the following documents:

• Main text

View BVdb publication page

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Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Orphanet Journal Of Rare Diseases

Punzo, Francesca F; Bertoli-Avella, Aida M AM; Scianguetta, Saverio S; Della Ragione, Fulvio F; Casale, Maddalena M; Ronzoni, Luisa L; Cappellini, Maria D MD; Forni, Gianluca G; Oostra, Ben A BA; Perrotta, Silverio S

Publication Date: 2011-12-30

Variant appearance in text: CDAII: 649C>T

PubMed Link: 22208203

Variant Present in the following documents:

• Main text

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Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.

American Journal Of Hematology

Russo, Roberta R; Gambale, Antonella A; Esposito, Maria Rosaria MR; Serra, Maria Luisa ML; Troiano, Annaelena A; De Maggio, Ilaria I; Capasso, Mario M; Luzzatto, Lucio L; Delaunay, Jean J; Tamary, Hannah H; Iolascon, Achille A

Publication Date: 2011-09

Variant appearance in text: SEC23B: R217X

PubMed Link: 21850656

Variant Present in the following documents:

• Main text
• ajh0086-0727.pdf

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Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Haematologica

Iolascon, Achille A; Russo, Roberta R; Esposito, Maria Rosaria MR; Asci, Roberta R; Piscopo, Carmelo C; Perrotta, Silverio S; Fénéant-Thibault, Madeleine M; Garçon, Loïc L; Delaunay, Jean J

Publication Date: 2010-05

Variant appearance in text: SEC23B: R217X

PubMed Link: 20015893

Variant Present in the following documents:

• Main text

View BVdb publication page

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