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: APOE: 127C>T; Arg43Cys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The first case of lipoprotein glomerulopathy complicated with collagen type III glomerulopathy and literature review.

Journal Of Nephrology

Liu, Huixia H; Luo, Changqing C; Li, Zhenqiong Z; Zhang, Chun C; Xiong, Jing J

Publication Date: 2022-11-12

Variant appearance in text: APOE: 127C>T; Arg43Cys

PubMed Link: 36370330

Variant Present in the following documents:

• Main text
• 40620_2022_Article_1491.pdf

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Genetics of Alzheimer's disease: an East Asian perspective.

Journal Of Human Genetics

Miyashita, Akinori A; Kikuchi, Masataka M; Hara, Norikazu N; Ikeuchi, Takeshi T

Publication Date: 2022-06-01

Variant appearance in text: APOE: 127C>T; Arg43Cys; rs121918399

PubMed Link: 35641666

Variant Present in the following documents:

• Main text
• 10038_2022_Article_1050.pdf

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A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.

Journal Of Medical Case Reports

Wang, Runxiu R; Zhao, Chengbo C; Chen, Wen W; Liu, Zhiping Z; Xie, Fuhua F

Publication Date: 2022-02-23

Variant appearance in text: APOE: Arg43Cys

PubMed Link: 35193676

Variant Present in the following documents:

• 13256_2022_Article_3302.pdf

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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: APOE: Arg43Cys

PubMed Link: 35119017

Variant Present in the following documents:

• Main text
• medi-101-e28718.pdf

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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: APOE: Arg43Cys

PubMed Link: 35119017

Variant Present in the following documents:

• Main text
• medi-101-e28718.pdf

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Genomics Integration Into Nephrology Practice.

Kidney Medicine

Pinto E Vairo, Filippo F; Prochnow, Carri C; Kemppainen, Jennifer L JL; Lisi, Emily C EC; Steyermark, Joan M JM; Kruisselbrink, Teresa M TM; Pichurin, Pavel N PN; Dhamija, Rhadika R; Hager, Megan M MM; Albadri, Sam S; Cornell, Lynn D LD; Lazaridis, Konstantinos N KN; Klee, Eric W EW; Senum, Sarah R SR; El Ters, Mireille M; Amer, Hatem H; Baudhuin, Linnea M LM; Moyer, Ann M AM; Keddis, Mira T MT; Zand, Ladan L; Sas, David J DJ; Erickson, Stephen B SB; Fervenza, Fernando C FC; Lieske, John C JC; Harris, Peter C PC; Hogan, Marie C MC

Publication Date: 2021

Variant appearance in text: APOE: 127C>T; Arg43Cys

PubMed Link: 34746741

Variant Present in the following documents:

• Main text
• mmc5.xlsx, sheet 1
• main.pdf

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Case Report: A Pediatric Case of Lipoprotein Glomerulopathy in China and Literature Review.

Frontiers In Pediatrics

Song, Yue Y; Yang, Changqiang C; Liu, Lan L; Wang, Hua H

Publication Date: 2021

Variant appearance in text: APOE: 127C>T; R43C

PubMed Link: 34513758

Variant Present in the following documents:

• Main text
• fped-09-684814.pdf

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Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

Diagnostic Pathology

da Silveira-Neto, Joaquim Nelito JN; de Oliveira Ahn, Guilherme Jinson GJ; de Menezes Neves, Precil Diego Miranda PDM; Baptista, Vinicius Augusto Ferreira VAF; de Almeida Araújo, Stanley S; Wanderley, David Campos DC; Watanabe, Andréia A; Watanabe, Elieser Hitoshi EH; Murai, Neide Missae NM; Bertollo, Eny Maria Goloni EMG; Vieira-Neto, Osvaldo Merege OM; Dantas, Márcio M; de Antônio, Sergio Ricardo SR; Costa, Roberto Silva RS; Baptista, Maria Alice Sperto Ferreira MASF; Moysés-Neto, Miguel M; Onuchic, Luiz Fernando LF

Publication Date: 2021-07-26

Variant appearance in text: APOE: Arg43Cys

PubMed Link: 34311745

Variant Present in the following documents:

• Main text
• 13000_2021_Article_1119.pdf

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An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.

Npj Genomic Medicine

Wang, Zhigang Z; Xu, Hongen H; Xiang, Tianchao T; Liu, Danhua D; Xu, Fei F; Zhao, Lixiang L; Feng, Yonghua Y; Xu, Linan L; Liu, Jialu J; Fang, Ye Y; Liu, Huanfei H; Li, Ruijun R; Hu, Xinxin X; Guan, Jingyuan J; Liu, Longshan L; Feng, Guiwen G; Shen, Qian Q; Xu, Hong H; Frishman, Dmitrij D; Tang, Wenxue W; Guo, Jiancheng J; Rao, Jia J; Shang, Wenjun W

Publication Date: 2021-07-02

Variant appearance in text: APOE: 127C>T; Arg43Cys

PubMed Link: 34215756

Variant Present in the following documents:

• Main text
• 41525_2021_Article_219.pdf

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Lipoprotein glomerulopathy induced by ApoE Kyoto mutation in ApoE-deficient mice.

Journal Of Translational Medicine

Wu, Hongyan H; Yang, Jing J; Liu, Yun-Qiang YQ; Lei, Song S; Yang, Mei M; Yang, Zhi Z; Yang, Yuan Y; Hu, Zhangxue Z

Publication Date: 2021-03-04

Variant appearance in text: APOE: R43C

PubMed Link: 33663537

Variant Present in the following documents:

• Main text
• 12967_2021_Article_2765.pdf

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs121918399

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: APOE: R43C

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

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Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.

Molecular Genetics & Genomic Medicine

Yang, Mingxin M; Weng, Qinjie Q; Pan, Xiaoxia X; Hussain, Hafiz Muhammad Jafar HMJ; Yu, Shuwen S; Xu, Jing J; Yu, Xialian X; Liu, Yunzi Y; Jin, Yuanmeng Y; Zhang, Chunli C; Li, Xiao X; Ren, Hong H; Chen, Nan N; Xie, Jingyuan J

Publication Date: 2020-08

Variant appearance in text: APOE: 127C>T; R43C

PubMed Link: 32441489

Variant Present in the following documents:

• Main text
• MGG3-8-e1281.pdf

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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: rs121918399

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft Biopsy.

Kidney International Reports

Batal, Ibrahim I; Fakhoury, Gaia G; Groopman, Emily E; D'Agati, Vivette D VD; Morris, Heather H

Publication Date: 2019-02

Variant appearance in text: APOE: Arg43Cys

PubMed Link: 30775634

Variant Present in the following documents:

• Main text
• main.pdf

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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: APOE: R43C; rs121918399

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: APOE: 127C>T; R43C

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: APOE: R43C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Screening and Evaluation of Deleterious SNPs in APOE Gene of Alzheimer's Disease.

Neurology Research International

Masoodi, Tariq Ahmad TA; Al Shammari, Sulaiman A SA; Al-Muammar, May N MN; Alhamdan, Adel A AA

Publication Date: 2012

Variant appearance in text: APOE: R43C; rs121918399

PubMed Link: 22530123

Variant Present in the following documents:

• Main text
• NRI2012-480609.pdf

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