Publications:

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Population-based meta-analysis and gene-set enrichment identifies FXR/RXR pathway as common to fatty liver disease and serum lipids.

Hepatology Communications

Handelman, Samuel K SK; Puentes, Yindra M YM; Kuppa, Annapurna A; Chen, Yanhua Y; Du, Xiaomeng X; Feitosa, Mary F MF; Palmer, Nicholette D ND; Speliotes, Elizabeth K EK

Publication Date: 2022-11

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 36098472

Variant Present in the following documents:

• HEP4-6-3120-s001.xlsx, sheet 6

View BVdb publication page

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Genetic Spectrum of Inherited Neuropathies in India.

Annals Of Indian Academy Of Neurology

Sharma, Shivani S; Govindaraj, Periyasamy P; Chickabasaviah, Yasha T YT; Siram, Ramesh R; Shroti, Akhilesh A; Seshagiri, Doniparthi V DV; Debnath, Monojit M; Bindu, Parayil S PS; Taly, Arun B AB; Nagappa, Madhu M

Publication Date: 2022

Variant appearance in text: APOB: Ala4481Thr; rs1801695

PubMed Link: 35936615

Variant Present in the following documents:

• AIAN-25-407.pdf

View BVdb publication page

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Brain Radiotoxicity-Related 15CAcBRT Gene Expression Signature Predicts Survival Prognosis of Glioblastoma Patients.

Neuro-Oncology

Reyes-González, Jesús J; Barajas-Olmos, Francisco F; García-Ortiz, Humberto H; Magraner-Pardo, Lorena L; Pons, Tirso T; Moreno, Sergio S; Aguirre-Cruz, Lucinda L; Reyes-Abrahantes, Andy A; Martínez-Hernández, Angélica A; Contreras-Cubas, Cecilia C; Barrios-Payan, Jorge J; Ruiz-Garcia, Henry J HJ; Hernandez-Pando, Rogelio R; Quiñones-Hinojosa, Alfredo A; Orozco, Lorena L; Abrahantes-Pérez, María Del Carmen MDC

Publication Date: 2022-07-08

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 35802478

Variant Present in the following documents:

• noac171_suppl_suplementary_table_s7.xlsx, sheet 1

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: APOB: A4481T

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.

Elife

Theis, Jeanne L JL; Vogler, Georg G; Missinato, Maria A MA; Li, Xing X; Nielsen, Tanja T; Zeng, Xin-Xin I XI; Martinez-Fernandez, Almudena A; Walls, Stanley M SM; Kervadec, Anaïs A; Kezos, James N JN; Birker, Katja K; Evans, Jared M JM; O'Byrne, Megan M MM; Fogarty, Zachary C ZC; Terzic, André A; Grossfeld, Paul P; Ocorr, Karen K; Nelson, Timothy J TJ; Olson, Timothy M TM; Colas, Alexandre R AR; Bodmer, Rolf R

Publication Date: 2020-10-02

Variant appearance in text: APOB: A4481T

PubMed Link: 33006316

Variant Present in the following documents:

• Main text
• elife-59554.pdf

View BVdb publication page

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: APOB: A4481T

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: APOB: 13441G>A; Ala4481Thr

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Multiple rare and common variants in APOB gene locus associated with oxidatively modified low-density lipoprotein levels.

Plos One

Khlebus, Eleonora E; Kutsenko, Vladimir V; Meshkov, Alexey A; Ershova, Alexandra A; Kiseleva, Anna A; Shevtsov, Anton A; Shcherbakova, Natalia N; Zharikova, Anastasiia A; Lankin, Vadim V; Tikhaze, Alla A; Chazova, Irina I; Yarovaya, Elena E; Drapkina, Oksana O; Boytsov, Sergey S

Publication Date: 2019

Variant appearance in text: APOB: Ala4481Thr; rs1801695

PubMed Link: 31150472

Variant Present in the following documents:

• Main text
• pone.0217620.pdf

View BVdb publication page

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A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11

View BVdb publication page

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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: 13441G>A; Ala4481Thr; rs1801695

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-2.xlsx, sheet 2
• 10.1194_P086710_jlr.P086710-2.xlsx, sheet 1

View BVdb publication page

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Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumors.

Nature Communications

George, Julie J; Walter, Vonn V; Peifer, Martin M; Alexandrov, Ludmil B LB; Seidel, Danila D; Leenders, Frauke F; Maas, Lukas L; Müller, Christian C; Dahmen, Ilona I; Delhomme, Tiffany M TM; Ardin, Maude M; Leblay, Noemie N; Byrnes, Graham G; Sun, Ruping R; De Reynies, Aurélien A; McLeer-Florin, Anne A; Bosco, Graziella G; Malchers, Florian F; Menon, Roopika R; Altmüller, Janine J; Becker, Christian C; Nürnberg, Peter P; Achter, Viktor V; Lang, Ulrich U; Schneider, Peter M PM; Bogus, Magdalena M; Soloway, Matthew G MG; Wilkerson, Matthew D MD; Cun, Yupeng Y; McKay, James D JD; Moro-Sibilot, Denis D; Brambilla, Christian G CG; Lantuejoul, Sylvie S; Lemaitre, Nicolas N; Soltermann, Alex A; Weder, Walter W; Tischler, Verena V; Brustugun, Odd Terje OT; Lund-Iversen, Marius M; Helland, Åslaug Å; Solberg, Steinar S; Ansén, Sascha S; Wright, Gavin G; Solomon, Benjamin B; Roz, Luca L; Pastorino, Ugo U; Petersen, Iver I; Clement, Joachim H JH; Sänger, Jörg J; Wolf, Jürgen J; Vingron, Martin M; Zander, Thomas T; Perner, Sven S; Travis, William D WD; Haas, Stefan A SA; Olivier, Magali M; Foll, Matthieu M; Büttner, Reinhard R; Hayes, David Neil DN; Brambilla, Elisabeth E; Fernandez-Cuesta, Lynnette L; Thomas, Roman K RK

Publication Date: 2018-03-13

Variant appearance in text: rs1801695

PubMed Link: 29535388

Variant Present in the following documents:

• 41467_2018_3099_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Molecular Guided Therapy Provides Sustained Clinical Response in Refractory Choroid Plexus Carcinoma.

Frontiers In Pharmacology

Cornelius, Albert A; Foley, Jessica J; Bond, Jeffrey J; Nagulapally, Abhinav B AB; Steinbrecher, Julie J; Hendricks, William P D WPD; Rich, Maria M; Yendrembam, Sangeeta S; Bergendahl, Genevieve G; Trent, Jeffrey M JM; Sholler, Giselle S GS

Publication Date: 2017

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 28993730

Variant Present in the following documents:

• Table3.xlsx, sheet 1

View BVdb publication page

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Family-specific aggregation of lipid GWAS variants confers the susceptibility to familial hypercholesterolemia in a large Austrian family.

Atherosclerosis

Nikkola, Elina E; Ko, Arthur A; Alvarez, Marcus M; Cantor, Rita M RM; Garske, Kristina K; Kim, Elliot E; Gee, Stephanie S; Rodriguez, Alejandra A; Muxel, Reinhard R; Matikainen, Niina N; Söderlund, Sanni S; Motazacker, Mahdi M MM; Borén, Jan J; Lamina, Claudia C; Kronenberg, Florian F; Schneider, Wolfgang J WJ; Palotie, Aarno A; Laakso, Markku M; Taskinen, Marja-Riitta MR; Pajukanta, Päivi P

Publication Date: 2017-09

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 28772107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page

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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: APOB: 13441G>A; Ala4481Thr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene

Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D

Publication Date: 2017-01-05

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 27270441

Variant Present in the following documents:

• onc2016172x3.xls, sheet 3

View BVdb publication page

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A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.

Oncotarget

Van Allen, Eliezer M EM; Robinson, Dan D; Morrissey, Colm C; Pritchard, Colin C; Imamovic, Alma A; Carter, Scott S; Rosenberg, Mara M; McKenna, Aaron A; Wu, Yi-Mi YM; Cao, Xuhong X; Chinnaiyan, Arul A; Garraway, Levi L; Nelson, Peter S PS

Publication Date: 2016-08-16

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 27167109

Variant Present in the following documents:

• oncotarget-07-52888-s004.xlsx, sheet 1

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1801695

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: Ala4481Thr; rs1801695

PubMed Link: 26415676

Variant Present in the following documents:

View BVdb publication page

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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: A4481T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One

Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F

Publication Date: 2015

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 25905921

Variant Present in the following documents:

• pone.0123569.s008.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research

Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA

Publication Date: 2014-04

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 24503134

Variant Present in the following documents:

• supp_D045963_jlr.D045963-1.pdf

View BVdb publication page

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Testing for an unusual distribution of rare variants.

Plos Genetics

Neale, Benjamin M BM; Rivas, Manuel A MA; Voight, Benjamin F BF; Altshuler, David D; Devlin, Bernie B; Orho-Melander, Marju M; Kathiresan, Sekar S; Purcell, Shaun M SM; Roeder, Kathryn K; Daly, Mark J MJ

Publication Date: 2011-03

Variant appearance in text: APOB: Ala4481Thr

PubMed Link: 21408211

Variant Present in the following documents:

• Main text
• pgen.1001322.pdf

View BVdb publication page

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Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Circulation. Cardiovascular Genetics

Edmondson, Andrew C AC; Braund, Peter S PS; Stylianou, Ioannis M IM; Khera, Amit V AV; Nelson, Christopher P CP; Wolfe, Megan L ML; Derohannessian, Stephanie L SL; Keating, Brendan J BJ; Qu, Liming L; He, Jing J; Tobin, Martin D MD; Tomaszewski, Maciej M; Baumert, Jens J; Klopp, Norman N; Döring, Angela A; Thorand, Barbara B; Li, Mingyao M; Reilly, Muredach P MP; Koenig, Wolfgang W; Samani, Nilesh J NJ; Rader, Daniel J DJ

Publication Date: 2011-04

Variant appearance in text: APOB: A4481T; rs1801695

PubMed Link: 21303902

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of lipid pathway genes indicates association of sequence variation near SREBF1/TOM1L2/ATPAF2 with dementia risk.

Human Molecular Genetics

Reynolds, Chandra A CA; Hong, Mun-Gwan MG; Eriksson, Ulrika K UK; Blennow, Kaj K; Wiklund, Fredrik F; Johansson, Boo B; Malmberg, Bo B; Berg, Stig S; Alexeyenko, Andrey A; Grönberg, Henrik H; Gatz, Margaret M; Pedersen, Nancy L NL; Prince, Jonathan A JA

Publication Date: 2010-05-15

Variant appearance in text: rs1801695

PubMed Link: 20167577

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in healthy oldest-old.

Plos One

Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR

Publication Date: 2009-08-14

Variant appearance in text: rs1801695

PubMed Link: 19680556

Variant Present in the following documents:

• pone.0006641.s001.xls, sheet 1

View BVdb publication page

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