Publications:

---

Genome-wide allele and haplotype-sharing patterns suggested one unique Hmong-Mein-related lineage and biological adaptation history in Southwest China.

Human Genomics

Wang, Jiawen J; Yang, Lin L; Duan, Shuhan S; Sun, Qiuxia Q; Li, Youjing Y; Wu, Jun J; Wu, Wenxin W; Wang, Zheng Z; Liu, Yan Y; Tang, Renkuan R; Yang, Junbao J; Liu, Chao C; Yuan, Buhong B; Wang, Daoyong D; Xu, Jianwei J; Wang, Mengge M; He, Guanglin G

Publication Date: 2023-01-31

Variant appearance in text: rs4149310

PubMed Link: 36721228

Variant Present in the following documents:

• Main text
• 40246_2023_Article_452.pdf

View BVdb publication page

---

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: ABCA1: 2337+95T>A; rs4149310

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

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: 2337+95T>A

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ABCA1: 2337+95T>A; rs4149310

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

---

Genetic architecture of lipid traits in the Hispanic community health study/study of Latinos.

Lipids In Health And Disease

Graff, Mariaelisa M; Emery, Leslie S LS; Justice, Anne E AE; Parra, Esteban E; Below, Jennifer E JE; Palmer, Nicholette D ND; Gao, Chuan C; Duan, Qing Q; Valladares-Salgado, Adan A; Cruz, Miguel M; Morrison, Alanna C AC; Boerwinkle, Eric E; Whitsel, Eric A EA; Kooperberg, Charles C; Reiner, Alex A; Li, Yun Y; Rodriguez, Carlos Jose CJ; Talavera, Gregory A GA; Langefeld, Carl D CD; Wagenknecht, Lynne E LE; Norris, Jill M JM; Taylor, Kent D KD; Papanicolaou, George G; Kenny, Eimear E; Loos, Ruth J F RJF; Chen, Yii-Der Ida YI; Laurie, Cathy C; Sofer, Tamar T; North, Kari E KE

Publication Date: 2017-10-12

Variant appearance in text: rs4149310

PubMed Link: 29025430

Variant Present in the following documents:

• Main text
• 12944_2017_Article_591.pdf

View BVdb publication page

---

Conjunctival fibrosis and the innate barriers to Chlamydia trachomatis intracellular infection: a genome wide association study.

Scientific Reports

Roberts, Chrissy h Ch; Franklin, Christopher S CS; Makalo, Pateh P; Joof, Hassan H; Sarr, Isatou I; Mahdi, Olaimatu S OS; Sillah, Ansumana A; Bah, Momodou M; Payne, Felicity F; Jeffreys, Anna E AE; Bottomley, William W; Natividad, Angels A; Molina-Gonzalez, Sandra S; Burr, Sarah E SE; Preston, Mark M; Kwiatkowski, Dominic D; Rockett, Kirk A KA; Clark, Taane G TG; Burton, Matthew J MJ; Mabey, David C W DC; Bailey, Robin R; Barroso, Inês I; Holland, Martin J MJ

Publication Date: 2015-11-30

Variant appearance in text: rs4149310

PubMed Link: 26616738

Variant Present in the following documents:

• Main text
• srep17447.pdf

View BVdb publication page

---

Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics

Coram, Marc A MA; Duan, Qing Q; Hoffmann, Thomas J TJ; Thornton, Timothy T; Knowles, Joshua W JW; Johnson, Nicholas A NA; Ochs-Balcom, Heather M HM; Donlon, Timothy A TA; Martin, Lisa W LW; Eaton, Charles B CB; Robinson, Jennifer G JG; Risch, Neil J NJ; Zhu, Xiaofeng X; Kooperberg, Charles C; Li, Yun Y; Reiner, Alex P AP; Tang, Hua H

Publication Date: 2013-06-06

Variant appearance in text: rs4149310

PubMed Link: 23726366

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

Journal Of Medical Genetics

Weissglas-Volkov, Daphna D; Aguilar-Salinas, Carlos A CA; Nikkola, Elina E; Deere, Kerry A KA; Cruz-Bautista, Ivette I; Arellano-Campos, Olimpia O; Muñoz-Hernandez, Linda Liliana LL; Gomez-Munguia, Lizeth L; Ordoñez-Sánchez, Maria Luisa ML; Reddy, Prasad M V Linga PM; Lusis, Aldons J AJ; Matikainen, Niina N; Taskinen, Marja-Riitta MR; Riba, Laura L; Cantor, Rita M RM; Sinsheimer, Janet S JS; Tusie-Luna, Teresa T; Pajukanta, Päivi P

Publication Date: 2013-05

Variant appearance in text: rs4149310

PubMed Link: 23505323

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

Plos Genetics

Inouye, Michael M; Ripatti, Samuli S; Kettunen, Johannes J; Lyytikäinen, Leo-Pekka LP; Oksala, Niku N; Laurila, Pirkka-Pekka PP; Kangas, Antti J AJ; Soininen, Pasi P; Savolainen, Markku J MJ; Viikari, Jorma J; Kähönen, Mika M; Perola, Markus M; Salomaa, Veikko V; Raitakari, Olli O; Lehtimäki, Terho T; Taskinen, Marja-Riitta MR; Järvelin, Marjo-Riitta MR; Ala-Korpela, Mika M; Palotie, Aarno A; de Bakker, Paul I W PI

Publication Date: 2012

Variant appearance in text: rs4149310

PubMed Link: 22916037

Variant Present in the following documents:

• Main text
• pgen.1002907.pdf

View BVdb publication page

---

Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

Plos Genetics

Lettre, Guillaume G; Palmer, Cameron D CD; Young, Taylor T; Ejebe, Kenechi G KG; Allayee, Hooman H; Benjamin, Emelia J EJ; Bennett, Franklyn F; Bowden, Donald W DW; Chakravarti, Aravinda A; Dreisbach, Al A; Farlow, Deborah N DN; Folsom, Aaron R AR; Fornage, Myriam M; Forrester, Terrence T; Fox, Ervin E; Haiman, Christopher A CA; Hartiala, Jaana J; Harris, Tamara B TB; Hazen, Stanley L SL; Heckbert, Susan R SR; Henderson, Brian E BE; Hirschhorn, Joel N JN; Keating, Brendan J BJ; Kritchevsky, Stephen B SB; Larkin, Emma E; Li, Mingyao M; Rudock, Megan E ME; McKenzie, Colin A CA; Meigs, James B JB; Meng, Yang A YA; Mosley, Tom H TH; Newman, Anne B AB; Newton-Cheh, Christopher H CH; Paltoo, Dina N DN; Papanicolaou, George J GJ; Patterson, Nick N; Post, Wendy S WS; Psaty, Bruce M BM; Qasim, Atif N AN; Qu, Liming L; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Reiner, Alexander P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Liu, Yongmei Y; Shrader, Peter P; Siscovick, David S DS; Tang, W H Wilson WH; Taylor, Herman A HA; Tracy, Russell P RP; Vasan, Ramachandran S RS; Waters, Kevin M KM; Wilks, Rainford R; Wilson, James G JG; Fabsitz, Richard R RR; Gabriel, Stacey B SB; Kathiresan, Sekar S; Boerwinkle, Eric E

Publication Date: 2011-02-10

Variant appearance in text: rs4149310

PubMed Link: 21347282

Variant Present in the following documents:

• Main text
• pgen.1001300.pdf

View BVdb publication page

---