Publications:

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Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: ABCA1: 3121C>G; Leu1041Val; rs192935024

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs192935024

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 1

View BVdb publication page

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Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Nagahara, Keiko K; Nishibukuro, Tsuyoshi T; Ogiwara, Yasuko Y; Ikegawa, Kento K; Tada, Hayato H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA; Ochi, Ayako A; Toyoda, Junya J; Nakano, Yuya Y; Adachi, Masanori M; Mizuno, Katsumi K; Hasegawa, Yukihiro Y; Dobashi, Kazushige K

Publication Date: 2022-05-01

Variant appearance in text: ABCA1: Leu1041Val

PubMed Link: 34011801

Variant Present in the following documents:

• jat-29-667.pdf

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: ABCA1: 3121C>G; Leu1041Val; rs192935024

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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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: ABCA1: 3121C>G; Leu1041Val

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review.

Medicine

Huang, Dan D; Zhou, Qiong Q; Chao, Yun-Qi YQ; Zou, Chao-Chun CC

Publication Date: 2019-04

Variant appearance in text: ABCA1: 3121C>G; Leu1041Val

PubMed Link: 30985648

Variant Present in the following documents:

• Main text
• medi-98-e15013.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs192935024

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: ABCA1: L1041V

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Journal Of Lipid Research

Sadananda, Singh N SN; Foo, Jia Nee JN; Toh, Meng Tiak MT; Cermakova, Lubomira L; Trigueros-Motos, Laia L; Chan, Teddy T; Liany, Herty H; Collins, Jennifer A JA; Gerami, Sima S; Singaraja, Roshni R RR; Hayden, Michael R MR; Francis, Gordon A GA; Frohlich, Jiri J; Khor, Chiea Chuen CC; Brunham, Liam R LR

Publication Date: 2015-10

Variant appearance in text: ABCA1: 3121C>G; Leu1041Val; rs192935024

PubMed Link: 26255038

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Comprehensive In Silico Analysis of the Functional and Structural Impact of Nonsynonymous SNPs in the ABCA1 Transporter Gene.

Cholesterol

Marín-Martín, Francisco R FR; Soler-Rivas, Cristina C; Martín-Hernández, Roberto R; Rodriguez-Casado, Arantxa A

Publication Date: 2014

Variant appearance in text: ABCA1: L1041V

PubMed Link: 25215231

Variant Present in the following documents:

• CHOLESTEROL2014-639751.pdf

View BVdb publication page

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ABC transporter genes and risk of type 2 diabetes: a study of 40,000 individuals from the general population.

Diabetes Care

Schou, Jesper J; Tybjærg-Hansen, Anne A; Møller, Holger J HJ; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R

Publication Date: 2012-12

Variant appearance in text: ABCA1: 3121C>G; rs192935024

PubMed Link: 23139370

Variant Present in the following documents:

• supp_dc12-0082v120082_DC120082SupplementaryData.pdf

View BVdb publication page

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