Publications:

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The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: APOB: Arg490Trp

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

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The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Nature Communications

Kim, Young Jin YJ; Moon, Sanghoon S; Hwang, Mi Yeong MY; Han, Sohee S; Jang, Hye-Mi HM; Kong, Jinhwa J; Shin, Dong Mun DM; Yoon, Kyungheon K; Kim, Sung Min SM; Lee, Jong-Eun JE; Mahajan, Anubha A; Park, Hyun-Young HY; McCarthy, Mark I MI; Cho, Yoon Shin YS; Kim, Bong-Jo BJ

Publication Date: 2022-11-04

Variant appearance in text: APOB: R490W

PubMed Link: 36333282

Variant Present in the following documents:

• Main text

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Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Journal Of Translational Medicine

Gandhi, Geethanjali Devadoss GD; Aamer, Waleed W; Krishnamoorthy, Navaneethakrishnan N; Syed, Najeeb N; Aliyev, Elbay E; Al-Maraghi, Aljazi A; Kohailan, Muhammad M; Alenbawi, Jamil J; Elanbari, Mohammed M; , ; Mifsud, Borbala B; Mokrab, Younes Y; Khalil, Charbel Abi CA; Fakhro, Khalid A KA

Publication Date: 2022-11-03

Variant appearance in text: APOB: 1468C>T; Arg490Trp

PubMed Link: 36329474

Variant Present in the following documents:

• 12967_2022_Article_3697.pdf

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Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research

Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR

Publication Date: 2022-06

Variant appearance in text: APOB: Arg490Trp

PubMed Link: 35460704

Variant Present in the following documents:

• mmc1.pdf

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Identification of a Variant in APOB Gene as a Major Cause of Hypobetalipoproteinemia in Lebanese Families.

Metabolites

Ayoub, Carine C; Azar, Yara Y; Abou-Khalil, Yara Y; Ghaleb, Youmna Y; Elbitar, Sandy S; Halaby, Georges G; Jambart, Selim S; Gannagé-Yared, Marie-Hélène MH; Yaghi, Cesar C; Saade Riachy, Carole C; El Khoury, Ralph R; Rabès, Jean-Pierre JP; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2021-08-24

Variant appearance in text: APOB: 1468C>T; Arg490Trp; rs771541567

PubMed Link: 34564380

Variant Present in the following documents:

• Main text
• metabolites-11-00564.pdf

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Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Open Heart

Lacaze, Paul P; Riaz, Moeen M; Sebra, Robert R; Hooper, Amanda J AJ; Pang, Jing J; Tiller, Jane J; Polekhina, Galina G; Tonkin, Andrew A; Reid, Chris C; Zoungas, Sophia S; Murray, Anne M AM; Nicholls, Stephen S; Watts, Gerald G; Schadt, Eric E; McNeil, John J JJ

Publication Date: 2021-07

Variant appearance in text: APOB: 1468C>T; Arg490Trp

PubMed Link: 34341098

Variant Present in the following documents:

• openhrt-2021-001710supp001.xlsx, sheet 1

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: APOB: 1468C>T; R490W; rs771541567

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-3.xlsx, sheet 1

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Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

Bmc Medical Genetics

Radovica-Spalvina, Ilze I; Latkovskis, Gustavs G; Silamikelis, Ivars I; Fridmanis, Davids D; Elbere, Ilze I; Ventins, Karlis K; Ozola, Guna G; Erglis, Andrejs A; Klovins, Janis J

Publication Date: 2015-09-28

Variant appearance in text: APOB: Arg490Trp

PubMed Link: 26415676

Variant Present in the following documents:

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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: APOB: R490W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Journal Of Lipid Research

Calandra, Sebastiano S; Tarugi, Patrizia P; Speedy, Helen E HE; Dean, Andrew F AF; Bertolini, Stefano S; Shoulders, Carol C CC

Publication Date: 2011-11

Variant appearance in text: APOB: 1468C>T

PubMed Link: 21862702

Variant Present in the following documents:

• Main text

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