Publications:

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Advanced cell-based products generated via automated and manual manufacturing platforms under the quality by design principle: Are they equivalent or different?

Heliyon

Hoang, Duc M DM; Nguyen, Quyen T QT; Phan, Trang T K TTK; Ngo, Anh T L ATL; Pham, Phuong T PT; Bach, Trung Q TQ; Le, Phuong T T PTT; Bui, Hoa T P HTP; Thanh, Liem Nguyen LN

Publication Date: 2023-05

Variant appearance in text: AGPAT2: 646A>T; Lys216Ter

PubMed Link: 37229156

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics

Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A

Publication Date: 2023

Variant appearance in text: AGPAT2: 646A>T; Lys216Ter

PubMed Link: 36923788

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Reduced gut microbiota diversity in patients with congenital generalized lipodystrophy.

Diabetology & Metabolic Syndrome

Montenegro Junior, Renan Magalhães RM; Ponte, Clarisse Mourão Melo CMM; Castelo, Maria Helane Costa Gurgel MHCG; de Oliveira Silveira, Alessandro Conrado AC; Fernandes, Virgínia Oliveira VO; D'Alva, Catarina Brasil CB; Oliveira, Luiz Felipe Valter LFV; Hristov, Angélica Domingues AD; Bandeira, Silviane Praciano SP; da Cruz Paiva, Grayce Ellen GE; Levi, José Eduardo JE

Publication Date: 2022-09-24

Variant appearance in text: AGPAT2: 646A>T; Lys216*

PubMed Link: 36153588

Variant Present in the following documents:

• Main text
• 13098_2022_Article_908.pdf

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: AGPAT2: K216X; rs138994150

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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Risk factors for diabetic foot ulcers in metreleptin naïve patients with lipodystrophy.

Clinical Diabetes And Endocrinology

Saydam, O O; Ozgen Saydam, B B; Adiyaman, S C SC; Sonmez Ince, M M; Eren, M A MA; Keskin, F E FE; Bilen, H H; Dagdeviren, M M; Kaya, S S; Akinci, G G; Balci, A A; Altay, C C; Bayraktar, F F; Oral, E A EA; Akinci, B B

Publication Date: 2021-10-01

Variant appearance in text: AGPAT2: K216X

PubMed Link: 34593051

Variant Present in the following documents:

• Main text
• 40842_2021_Article_132.pdf

View BVdb publication page

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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: AGPAT2: K216X

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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[Multiple subcutaneous nodules for 46 days in an infant aged 66 days].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics

Guo, Dan-Dan DD; Liu, Xiao-Feng XF; Duan, Yuan-Dong YD

Publication Date: 2020-08

Variant appearance in text: AGPAT2: 646A>T

PubMed Link: 32800040

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: AGPAT2: 646A>T; Lys216*; rs138994150

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.

Diabetology & Metabolic Syndrome

Montenegro Junior, Renan Magalhães RM; Lima, Grayce Ellen da Cruz Paiva GEDCP; Fernandes, Virgínia Oliveira VO; Montenegro, Ana Paula Dias Rangel APDR; Ponte, Clarisse Mourão Melo CMM; Martins, Lívia Vasconcelos LV; Pinheiro, Daniel Pascoalino DP; de Moraes, Maria Elisabete Amaral MEA; de Moraes Filho, Manoel Odorico MO; d'Alva, Catarina Brasil CB

Publication Date: 2020

Variant appearance in text: AGPAT2: K216*

PubMed Link: 32280377

Variant Present in the following documents:

• Main text
• 13098_2020_Article_538.pdf

View BVdb publication page

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Congenital Generalized Lipoatrophy (Berardinelli-Seip Syndrome) Type 1: Description of Novel AGPAT2 Homozygous Variants Showing the Highly Heterogeneous Presentation of the Disease.

Frontiers In Endocrinology

Ceccarini, Giovanni G; Magno, Silvia S; Pelosini, Caterina C; Ferrari, Federica F; Sessa, Maria Rita MR; Scabia, Gaia G; Maffei, Margherita M; Jéru, Isabelle I; Lascols, Olivier O; Vigouroux, Corinne C; Santini, Ferruccio F

Publication Date: 2020

Variant appearance in text: AGPAT2: Lys216X

PubMed Link: 32117065

Variant Present in the following documents:

• Main text
• fendo-11-00039.pdf

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Adherence with metreleptin therapy and health self-perception in patients with lipodystrophic syndromes.

Orphanet Journal Of Rare Diseases

Vatier, Camille C; Kalbasi, Dina D; Vantyghem, Marie-Christine MC; Lascols, Olivier O; Jéru, Isabelle I; Daguenel, Anne A; Gautier, Jean-François JF; Buyse, Marion M; Vigouroux, Corinne C

Publication Date: 2019-07-12

Variant appearance in text: AGPAT2: K216X

PubMed Link: 31300002

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1141.pdf

View BVdb publication page

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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: AGPAT2: K216X; rs138994150

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy.

Frontiers In Physiology

Broekema, Marjoleine F MF; Massink, Maarten P G MPG; De Ligt, Joep J; Stigter, Edwin C A ECA; Monajemi, Houshang H; De Ridder, Jeroen J; Burgering, Boudewijn M T BMT; van Haaften, Gijs W GW; Kalkhoven, Eric E

Publication Date: 2018

Variant appearance in text: AGPAT2: K216X

PubMed Link: 30319454

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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Whole-exome sequencing reveals genetic variants in ERC1 and KCNG4 associated with complete hydatidiform mole in Chinese Han women.

Oncotarget

Yu, Yan Y; Lu, Bingjian B; Lu, Weiguo W; Li, Shuang S; Li, Xiuqin X; Wang, Xinyu X; Wan, Xiaoyun X; Chen, Yaxia Y; Feng, Suwen S; Jia, Yao Y; Yang, Ru R; Tang, Fangxu F; Li, Xiong X; Zhang, Shulan S; Wang, Xinyan X; Wei, Heng H; Peng, Zhilan Z; Lu, Lin L; Zhong, Huizhen H; Zhao, Linjun L; Huang, Zhangqian Z; Lin, Lin L; Shen, Weihong W; Lu, Yan Y; Cao, Zhu Z; Zou, Jian J; Ma, Yuejiang Y; Chen, Xiaojing X; Tian, Qifang Q; Lu, Shiming S; Liu, Pengyuan P; Ma, Ding D; Xie, Xing X; Cheng, Xiaodong X

Publication Date: 2017-09-26

Variant appearance in text: AGPAT2: K216X

PubMed Link: 29088863

Variant Present in the following documents:

• oncotarget-08-75264-s003.xls, sheet 1

View BVdb publication page

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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey.

The Journal Of Clinical Endocrinology And Metabolism

Akinci, Baris B; Onay, Huseyin H; Demir, Tevfik T; Ozen, Samim S; Kayserili, Hulya H; Akinci, Gulcin G; Nur, Banu B; Tuysuz, Beyhan B; Nuri Ozbek, Mehmet M; Gungor, Adem A; Yildirim Simsir, Ilgin I; Altay, Canan C; Demir, Leyla L; Simsek, Enver E; Atmaca, Murat M; Topaloglu, Haluk H; Bilen, Habib H; Atmaca, Hulusi H; Atik, Tahir T; Cavdar, Umit U; Altunoglu, Umut U; Aslanger, Ayca A; Mihci, Ercan E; Secil, Mustafa M; Saygili, Fusun F; Comlekci, Abdurrahman A; Garg, Abhimanyu A

Publication Date: 2016-07

Variant appearance in text: AGPAT2: 646A>T; K216*

PubMed Link: 27144933

Variant Present in the following documents:

• Main text

View BVdb publication page

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Towards a mechanistic understanding of lipodystrophy and seipin functions.

Bioscience Reports

Wee, Kenneth K; Yang, Wulin W; Sugii, Shigeki S; Han, Weiping W

Publication Date: 2014-10-02

Variant appearance in text: AGPAT2: K216X

PubMed Link: 25195639

Variant Present in the following documents:

• Main text

View BVdb publication page

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