APOB c.10580G>A ;(p.R3527Q)

Variant ID: 2-21229160-C-T

NM_000384.2(APOB):c.10580G>A;(p.R3527Q)

This variant was identified in 142 publications

View GRCh38 version.




Publications:


Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.

Journal Of The American Heart Association
Cuchel, Marina M; Lee, Paul C PC; Hudgins, Lisa C LC; Duell, P Barton PB; Ahmad, Zahid Z; Baum, Seth J SJ; Linton, MacRae F MF; de Ferranti, Sarah D SD; Ballantyne, Christie M CM; Larry, John A JA; Hemphill, Linda C LC; Kindt, Iris I; Gidding, Samuel S SS; Martin, Seth S SS; Moriarty, Patrick M PM; Thompson, Paul P PP; Underberg, James A JA; Guyton, John R JR; Andersen, Rolf L RL; Whellan, David J DJ; Benuck, Irwin I; Kane, John P JP; Myers, Kelly K; Howard, William W; Staszak, David D; Jamison, Allison A; Card, Mary C MC; Bourbon, Mafalda M; Chora, Joana R JR; Rader, Daniel J DJ; Knowles, Joshua W JW; Wilemon, Katherine K; McGowan, Mary P MP
Publication Date: 2023-04-29

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 37119068
Variant Present in the following documents:
  • JAH3-12-e029175-s001.pdf
  • JAH3-12-e029175.pdf
View BVdb publication page



Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.

International Journal Of Molecular Sciences
Rodríguez-Jiménez, Carmen C; de la Peña, Gema G; Sanguino, Javier J; Poyatos-Peláez, Sara S; Carazo, Ana A; Martínez-Hernández, Pedro L PL; Arrieta, Francisco F; Mostaza, José M JM; Gómez-Coronado, Diego D; Rodríguez-Nóvoa, Sonia S
Publication Date: 2023-04-21

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 37108800
Variant Present in the following documents:
  • Main text
  • ijms-24-07635.pdf
View BVdb publication page



Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.

Genome Medicine
Rao, Nandana D ND; Kaganovsky, Jailanie J; Malouf, Emily A EA; Coe, Sandy S; Huey, Jennifer J; Tsinajinne, Darwin D; Hassan, Sajida S; King, Kristine M KM; Fullerton, Stephanie M SM; Chen, Annie T AT; Shirts, Brian H BH
Publication Date: 2023-04-18

Variant appearance in text: APOB: 10580G>A
PubMed Link: 37069702
Variant Present in the following documents:
  • 13073_2023_Article_1174.pdf
View BVdb publication page



Associations of genome-wide and regional autozygosity with 96 complex traits in old order Amish.

Bmc Genomics
Lynch, Megan T MT; Maloney, Kristin A KA; Xu, Huichun H; Perry, James A JA; Center, Regeneron Genetics RG; Shuldiner, Alan R AR; Mitchell, Braxton D BD
Publication Date: 2023-03-20

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 36941539
Variant Present in the following documents:
  • Main text
  • 12864_2023_Article_9208.pdf
View BVdb publication page



Impact of pharmacogenetics on aspirin resistance: a systematic review.

Arquivos De Neuro-Psiquiatria
Silva, Gustavo Figueiredo da GFD; Lopes, Bruno Mattei BM; Moser, Vinicius V; Ferreira, Leslie Ecker LE
Publication Date: 2023-01

Variant appearance in text: rs5742904
PubMed Link: 36918009
Variant Present in the following documents:
  • Main text
  • 10-1055-s-0042-1758445.pdf
View BVdb publication page



Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: rs5742904
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM4_ESM.xls, sheet 2
View BVdb publication page



Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022.

Journal Of Atherosclerosis And Thrombosis
Harada-Shiba, Mariko M; Ohtake, Akira A; Sugiyama, Daisuke D; Tada, Hayato H; Dobashi, Kazushige K; Matsuki, Kota K; Minamino, Tetsuo T; Yamashita, Shizuya S; Yamamoto, Yukiyo Y; ,
Publication Date: 2023-01-20

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 36682777
Variant Present in the following documents:
  • jat-30-531.pdf
View BVdb publication page



New Genetically Determined Markers of the Functional State of the Cardiovascular System.

Genes
Kondakova, Elena V EV; Ilina, Valeria M VM; Ermakova, Lyubov M LM; Krivonosov, Mikhail I MI; Kuchin, Kirill V KV; Vedunova, Maria V MV
Publication Date: 2023-01-10

Variant appearance in text: rs5742904
PubMed Link: 36672926
Variant Present in the following documents:
  • Main text
  • genes-14-00185.pdf
View BVdb publication page



Genetic Markers for Thrombophilia and Cardiovascular Disease Associated with Multiple Sclerosis.

Biomedicines
Hadjiagapiou, Maria S MS; Krashias, George G; Deeba, Elie E; Kallis, George G; Papaloizou, Andri A; Costeas, Paul P; Christodoulou, Christina C; Pantzaris, Marios M; Lambrianides, Anastasia A
Publication Date: 2022-10-21

Variant appearance in text: rs5742904
PubMed Link: 36289926
Variant Present in the following documents:
  • biomedicines-10-02665.pdf
View BVdb publication page



Genetic and molecular architecture of familial hypercholesterolemia.

Journal Of Internal Medicine
Abifadel, Marianne M; Boileau, Catherine C
Publication Date: 2022-10-04

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 36196022
Variant Present in the following documents:
  • Main text
  • JOIM-293-144.pdf
View BVdb publication page



Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.

Journal Of Thoracic Disease
Pan, Yu Y; Liu, Manli M; Zhang, Songsong S; Mei, Huaxian H; Wu, Jing J
Publication Date: 2022-08

Variant appearance in text: APOB: 10580G>A
PubMed Link: 36071769
Variant Present in the following documents:
  • Main text
  • jtd-14-08-3008.pdf
View BVdb publication page



Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Nature Communications
Halford, Jennifer L JL; Morrill, Valerie N VN; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Melloni, Giorgio G; Marston, Nicholas A NA; Weng, Lu-Chen LC; Nauffal, Victor V; Hall, Amelia W AW; Gunn, Sophia S; Austin-Tse, Christina A CA; Pirruccello, James P JP; Khurshid, Shaan S; Rehm, Heidi L HL; Benjamin, Emelia J EJ; Boerwinkle, Eric E; Brody, Jennifer A JA; Correa, Adolfo A; Fornwalt, Brandon K BK; Gupta, Namrata N; Haggerty, Christopher M CM; Harris, Stephanie S; Heckbert, Susan R SR; Hong, Charles C CC; Kooperberg, Charles C; Lin, Henry J HJ; Loos, Ruth J F RJF; Mitchell, Braxton D BD; Morrison, Alanna C AC; Post, Wendy W; Psaty, Bruce M BM; Redline, Susan S; Rice, Kenneth M KM; Rich, Stephen S SS; Rotter, Jerome I JI; Schnatz, Peter F PF; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Wong, Eugene K EK; , ; Sabatine, Marc S MS; Ruff, Christian T CT; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2022-08-30

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 36042188
Variant Present in the following documents:
  • 41467_2022_32009_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants.

Journal Of Applied Genetics
Jankowski, Maciej M; Daca-Roszak, Patrycja P; Obracht-Prondzyński, Cezary C; Płoski, Rafał R; Lipska-Ziętkiewicz, Beata S BS; Ziętkiewicz, Ewa E
Publication Date: 2022-12

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 35971028
Variant Present in the following documents:
  • Main text
  • 13353_2022_Article_713.pdf
View BVdb publication page



Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia.

Genes
Berta, Eszter E; Zsíros, Noémi N; Bodor, Miklós M; Balogh, István I; Lőrincz, Hajnalka H; Paragh, György G; Harangi, Mariann M
Publication Date: 2022-06-27

Variant appearance in text: APOB: R3527Q
PubMed Link: 35885941
Variant Present in the following documents:
  • Main text
  • genes-13-01158.pdf
View BVdb publication page



Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.

Genes
Rutkowska, Lena L; Sałacińska, Kinga K; Salachna, Dominik D; Matusik, Paweł P; Pinkier, Iwona I; Kępczyński, Łukasz Ł; Piotrowicz, Małgorzata M; Starostecka, Ewa E; Lewiński, Andrzej A; Gach, Agnieszka A
Publication Date: 2022-06-01

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 35741760
Variant Present in the following documents:
  • Main text
  • genes-13-00999.pdf
View BVdb publication page



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: Arg3527Gln; rs5742904
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



An Amish founder population reveals rare-population genetic determinants of the human lipidome.

Communications Biology
Montasser, May E ME; Aslibekyan, Stella S; Srinivasasainagendra, Vinodh V; Tiwari, Hemant K HK; Patki, Amit A; Bagheri, Minoo M; Kind, Tobias T; Barupal, Dinesh Kumar DK; Fan, Sili S; Perry, James J; Ryan, Kathleen A KA; Shuldiner, Alan R AR; Arnett, Donna K DK; Beitelshees, Amber L AL; Irvin, Marguerite Ryan MR; O'Connell, Jeffrey R JR
Publication Date: 2022-04-07

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 35393526
Variant Present in the following documents:
  • 42003_2022_3291_MOESM1_ESM.pdf
View BVdb publication page



Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.

Jama Network Open
Fahed, Akl C AC; Wang, Minxian M; Patel, Aniruddh P AP; Ajufo, Ezimamaka E; Maamari, Dimitri J DJ; Aragam, Krishna G KG; Brockman, Deanna G DG; Vosburg, Trish T; Ellinor, Patrick T PT; Ng, Kenney K; Khera, Amit V AV
Publication Date: 2022-03-01

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 35294538
Variant Present in the following documents:
  • jamanetwopen-e222687-s001.pdf
View BVdb publication page



Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell
Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K
Publication Date: 2022-03-03

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 35176222
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
  • mmc5.xlsx, sheet 1
View BVdb publication page



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: APOB: R3527Q; rs5742904
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 12
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

Genes
Madar, László L; Juhász, Lilla L; Szűcs, Zsuzsanna Z; Kerkovits, Lóránt L; Harangi, Mariann M; Balogh, István I
Publication Date: 2022-01-15

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 35052492
Variant Present in the following documents:
  • Main text
  • genes-13-00153.pdf
View BVdb publication page



Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).

Journal Of Personalized Medicine
Shakhtshneider, Elena E; Ivanoshchuk, Dinara D; Timoshchenko, Olga O; Orlov, Pavel P; Semaev, Sergey S; Valeev, Emil E; Goonko, Andrew A; Ladygina, Nataliya N; Voevoda, Mikhail M
Publication Date: 2021-11-19

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 34834584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.

Biomedicines
Martín-Campos, Jesús Maria JM
Publication Date: 2021-11-19

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34829957
Variant Present in the following documents:
  • Main text
  • biomedicines-09-01728.pdf
View BVdb publication page



Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.

American Journal Of Human Genetics
Blout Zawatsky, Carrie L CL; Shah, Nidhi N; Machini, Kalotina K; Perez, Emma E; Christensen, Kurt D KD; Zouk, Hana H; Steeves, Marcie M; Koch, Christopher C; Uveges, Melissa M; Shea, Janelle J; Gold, Nina N; Krier, Joel J; Boutin, Natalie N; Mahanta, Lisa L; Rehm, Heidi L HL; Weiss, Scott T ST; Karlson, Elizabeth W EW; Smoller, Jordan W JW; Lebo, Matthew S MS; Green, Robert C RC
Publication Date: 2021-12-02

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 34752750
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Genetic testing for Familial Hypercholesterolaemia - Past, Present and Future.

Journal Of Lipid Research
Futema, Marta M; Taylor-Beadling, Alison A; Williams, Maggie M; Humphries, Steve E SE
Publication Date: 2021-10-16

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 34666015
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic testing for familial hypercholesterolemia-past, present, and future.

Journal Of Lipid Research
Futema, Marta M; Taylor-Beadling, Alison A; Williams, Maggie M; Humphries, Steve E SE
Publication Date: 2021

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 34666015
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Pharmacogenomics Variability of Lipid-Lowering Therapies in Familial Hypercholesterolemia.

Journal Of Personalized Medicine
Hindi, Nagham N NN; Alenbawi, Jamil J; Nemer, Georges G
Publication Date: 2021-08-31

Variant appearance in text: APOB: R3527Q; rs5742904
PubMed Link: 34575654
Variant Present in the following documents:
  • Main text
  • jpm-11-00877.pdf
View BVdb publication page



Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

Jama Pediatrics
, ; Krantz, Ian D ID; Medne, Livija L; Weatherly, Jamila M JM; Wild, K Taylor KT; Biswas, Sawona S; Devkota, Batsal B; Hartman, Tiffiney T; Brunelli, Luca L; Fishler, Kristen P KP; Abdul-Rahman, Omar O; Euteneuer, Joshua C JC; Hoover, Denise D; Dimmock, David D; Cleary, John J; Farnaes, Lauge L; Knight, Jason J; Schwarz, Adam J AJ; Vargas-Shiraishi, Ofelia M OM; Wigby, Kristin K; Zadeh, Neda N; Shinawi, Marwan M; Wambach, Jennifer A JA; Baldridge, Dustin D; Cole, F Sessions FS; Wegner, Daniel J DJ; Urraca, Nora N; Holtrop, Shannon S; Mostafavi, Roya R; Mroczkowski, Henry J HJ; Pivnick, Eniko K EK; Ward, Jewell C JC; Talati, Ajay A; Brown, Chester W CW; Belmont, John W JW; Ortega, Julia L JL; Robinson, Keisha D KD; Brocklehurst, W Tyler WT; Perry, Denise L DL; Ajay, Subramanian S SS; Hagelstrom, R Tanner RT; Bennett, Maren M; Rajan, Vani V; Taft, Ryan J RJ
Publication Date: 2021-12-01

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 34570182
Variant Present in the following documents:
  • jamapediatr-e213496-s003.xlsx, sheet 5
View BVdb publication page



Case-finding and genetic testing for familial hypercholesterolaemia in primary care.

Heart (British Cardiac Society)
Qureshi, Nadeem N; Akyea, Ralph Kwame RK; Dutton, Brittany B; Humphries, Steve E SE; Abdul Hamid, Hasidah H; Condon, Laura L; Weng, Stephen F SF; Kai, Joe J; ,
Publication Date: 2021-12

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34521694
Variant Present in the following documents:
  • heartjnl-2021-319742supp001.pdf
View BVdb publication page



Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.

Journal Of Atherosclerosis And Thrombosis
Kim, Hyoeun H; Lee, Chan Joo CJ; Kim, Sang-Hyun SH; Kim, Jang Young JY; Choi, Sung Hee SH; Kang, Hyun-Jae HJ; Park, Kyong Soo KS; Cho, Byung Ryul BR; Kim, Byung Jin BJ; Sung, Ki Chul KC; Jeong, In-Kyung IK; Jeong, Jin-Ok JO; Bae, Jang-Whan JW; Park, Jung Mi JM; Lee, Yunbeom Y; Jeong, Ilecheon I; Han, Hyojun H; Lee, Ji Hyun JH; Lee, Sang-Hak SH
Publication Date: 2022-08-01

Variant appearance in text: APOB: R3527Q
PubMed Link: 34456200
Variant Present in the following documents:
  • jat-29-1176.pdf
View BVdb publication page



Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.

Arteriosclerosis, Thrombosis, And Vascular Biology
Björnsson, Eythór E; Thorgeirsson, Guðmundur G; Helgadóttir, Anna A; Thorleifsson, Guðmar G; Sveinbjörnsson, Garðar G; Kristmundsdóttir, Snaedís S; Jónsson, Hákon H; Jónasdóttir, Aðalbjörg A; Jónasdóttir, Áslaug Á; Sigurðsson, Ásgeir Á; Guðnason, Thórarinn T; Ólafsson, Ísleifur Í; Sigurðsson, Emil L EL; Sigurðardóttir, Ólöf Ó; Viðarsson, Brynjar B; Baldvinsson, Magnús M; Bjarnason, Ragnar R; Danielsen, Ragnar R; Matthíasson, Stefán E SE; Thórarinsson, Björn L BL; Grétarsdóttir, Sólveig S; Steinthórsdóttir, Valgerður V; Halldórsson, Bjarni V BV; Andersen, Karl K; Arnar, Davíð O DO; Jónsdóttir, Ingileif I; Guðbjartsson, Daníel F DF; Hólm, Hilma H; Thorsteinsdóttir, Unnur U; Sulem, Patrick P; Stefánsson, Kári K
Publication Date: 2021-10

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34407635
Variant Present in the following documents:
  • atv-41-2616-s001.pdf
  • atv-41-2616.pdf
View BVdb publication page



Unusual responses to PCSK9 inhibitors in a clinical cohort utilizing a structured follow-up protocol.

American Journal Of Preventive Cardiology
Warden, Bruce A BA; Miles, Joshua R JR; Oleaga, Carlota C; Ganda, Om P OP; Duell, P Barton PB; Purnell, Jonathan Q JQ; Shapiro, Michael D MD; Fazio, Sergio S
Publication Date: 2020-03

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34327453
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of familial hypercholesterolemia in Taiwanese ischemic stroke patients.

Aging
Tung, Hsin H; Lin, Hsueh-Ju HJ; Chen, Po-Lin PL; Lu, Tsai-Jung TJ; Jhan, Pei-Pei PP; Chen, Jun-Peng JP; Chen, Yi-Ming YM; Wu, Chen-Chin CC; Lin, Yung-Yang YY; Hsiao, Tzu-Hung TH
Publication Date: 2021-07-27

Variant appearance in text: APOB: 10580G>A
PubMed Link: 34314377
Variant Present in the following documents:
  • Main text
  • aging-13-203320.pdf
View BVdb publication page



Universal Screening for Familial Hypercholesterolemia in Children in Kagawa, Japan.

Journal Of Atherosclerosis And Thrombosis
Matsunaga, Keiji K; Mizobuchi, Asako A; Ying Fu, Hai H; Ishikawa, Shohei S; Tada, Hayato H; Kawashiri, Masa-Aki MA; Yokota, Ichiro I; Sasaki, Tsuyoshi T; Ito, Shigeru S; Kunikata, Jun J; Iwase, Takashi T; Hirao, Tomohiro T; Yokoyama, Katsunori K; Hoshikawa, Yoichi Y; Fujisawa, Takuji T; Dobashi, Kazushige K; Kusaka, Takashi T; Minamino, Tetsuo T
Publication Date: 2022-06-01

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34176852
Variant Present in the following documents:
  • jat-29-839.pdf
View BVdb publication page



Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Nature Communications
Goodrich, Julia K JK; Singer-Berk, Moriel M; Son, Rachel R; Sveden, Abigail A; Wood, Jordan J; England, Eleina E; Cole, Joanne B JB; Weisburd, Ben B; Watts, Nick N; Caulkins, Lizz L; Dornbos, Peter P; Koesterer, Ryan R; Zappala, Zachary Z; Zhang, Haichen H; Maloney, Kristin A KA; Dahl, Andy A; Aguilar-Salinas, Carlos A CA; Atzmon, Gil G; Barajas-Olmos, Francisco F; Barzilai, Nir N; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Bowden, Donald W DW; Centeno-Cruz, Federico F; Chambers, John C JC; Chami, Nathalie N; Chan, Edmund E; Chan, Juliana J; Cheng, Ching-Yu CY; Cho, Yoon Shin YS; Contreras-Cubas, Cecilia C; Córdova, Emilio E; Correa, Adolfo A; DeFronzo, Ralph A RA; Duggirala, Ravindranath R; Dupuis, Josée J; Garay-Sevilla, Ma Eugenia ME; García-Ortiz, Humberto H; Gieger, Christian C; Glaser, Benjamin B; González-Villalpando, Clicerio C; Gonzalez, Ma Elena ME; Grarup, Niels N; Groop, Leif L; Gross, Myron M; Haiman, Christopher C; Han, Sohee S; Hanis, Craig L CL; Hansen, Torben T; Heard-Costa, Nancy L NL; Henderson, Brian E BE; Hernandez, Juan Manuel Malacara JMM; Hwang, Mi Yeong MY; Islas-Andrade, Sergio S; Jørgensen, Marit E ME; Kang, Hyun Min HM; Kim, Bong-Jo BJ; Kim, Young Jin YJ; Koistinen, Heikki A HA; Kooner, Jaspal Singh JS; Kuusisto, Johanna J; Kwak, Soo-Heon SH; Laakso, Markku M; Lange, Leslie L; Lee, Jong-Young JY; Lee, Juyoung J; Lehman, Donna M DM; Linneberg, Allan A; Liu, Jianjun J; Loos, Ruth J F RJF; Lyssenko, Valeriya V; Ma, Ronald C W RCW; Martínez-Hernández, Angélica A; Meigs, James B JB; Meitinger, Thomas T; Mendoza-Caamal, Elvia E; Mohlke, Karen L KL; Morris, Andrew D AD; Morrison, Alanna C AC; Ng, Maggie C Y MCY; Nilsson, Peter M PM; O'Donnell, Christopher J CJ; Orozco, Lorena L; Palmer, Colin N A CNA; Park, Kyong Soo KS; Post, Wendy S WS; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Reiner, Alexander P AP; Revilla-Monsalve, Cristina C; Rich, Stephen S SS; Rotter, Jerome I JI; Saleheen, Danish D; Schurmann, Claudia C; Sim, Xueling X; Sladek, Rob R; Small, Kerrin S KS; So, Wing Yee WY; Spector, Timothy D TD; Strauch, Konstantin K; Strom, Tim M TM; Tai, E Shyong ES; Tam, Claudia H T CHT; Teo, Yik Ying YY; Thameem, Farook F; Tomlinson, Brian B; Tracy, Russell P RP; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Tusié-Luna, Teresa T; van Dam, Rob M RM; Vasan, Ramachandran S RS; Wilson, James G JG; Witte, Daniel R DR; Wong, Tien-Yin TY; , ; Burtt, Noël P NP; Zaitlen, Noah N; McCarthy, Mark I MI; Boehnke, Michael M; Pollin, Toni I TI; Flannick, Jason J; Mercader, Josep M JM; O'Donnell-Luria, Anne A; Baxter, Samantha S; Florez, Jose C JC; MacArthur, Daniel G DG; Udler, Miriam S MS
Publication Date: 2021-06-09

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 34108472
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_23556.pdf
  • 41467_2021_23556_MOESM3_ESM.xlsx, sheet 2
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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.

Journal Of Personalized Medicine
Meshkov, Alexey N AN; Ershova, Alexandra I AI; Kiseleva, Anna V AV; Shalnova, Svetlana A SA; Drapkina, Oxana M OM; Boytsov, Sergey A SA; On Behalf Of The Fh-Esse-Rf Investigators,
Publication Date: 2021-05-24

Variant appearance in text: APOB: 10580G>A; Arg3527Gln; rs5742904
PubMed Link: 34074024
Variant Present in the following documents:
  • Main text
View BVdb publication page



Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology
Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ
Publication Date: 2021-08-01

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 34037665
Variant Present in the following documents:
  • jamacardiol-e211301-s001.pdf
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Genetic basis of hypercholesterolemia in adults.

Npj Genomic Medicine
Saadatagah, Seyedmohammad S; Jose, Merin M; Dikilitas, Ozan O; Alhalabi, Lubna L; Miller, Alexandra A AA; Fan, Xiao X; Olson, Janet E JE; Kochan, David C DC; Safarova, Maya M; Kullo, Iftikhar J IJ
Publication Date: 2021-04-14

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 33854068
Variant Present in the following documents:
  • 41525_2021_190_MOESM1_ESM.pdf
  • 41525_2021_Article_190.pdf
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Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
Publication Date: 2021-07

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 33824501
Variant Present in the following documents:
  • NIHMS1700422-supplement-Supplementary___Appendix__online_only_material__etc___2.pdf
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Implementing genomic screening in diverse populations.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2021-02-05

Variant appearance in text: APOB: 10580G>A; Arg3527Gln
PubMed Link: 33546753
Variant Present in the following documents:
  • 13073_2021_832_MOESM1_ESM.pdf
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The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.

Frontiers In Genetics
Kamar, Amina A; Khalil, Athar A; Nemer, Georges G
Publication Date: 2020

Variant appearance in text: APOB: Arg3527Gln
PubMed Link: 33519890
Variant Present in the following documents:
  • Main text
View BVdb publication page