Publications:

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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: rs5929

PubMed Link: 36721228

Variant Present in the following documents:

• Main text
• 40246_2023_Article_452.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: LDLR: P539P

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2

View BVdb publication page

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Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.

Frontiers In Genetics

Hu, Haochang H; Shu, Tian T; Ma, Jun J; Chen, Ruoyu R; Wang, Jian J; Wang, Shuangshuang S; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 34970301

Variant Present in the following documents:

• fgene-12-762587.pdf

View BVdb publication page

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The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.

Lipids In Health And Disease

Hu, Haochang H; Chen, Ruoyu R; Hu, Yingchu Y; Wang, Jian J; Lin, Shaoyi S; Chen, Xiaomin X

Publication Date: 2021-09-12

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 34511120

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1536.pdf

View BVdb publication page

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Association of Lipoprotein (a) variants with risk of cardiovascular disease: a Mendelian randomization study.

Lipids In Health And Disease

Xia, Juan J; Guo, Chunyue C; Liu, Kuo K; Xie, Yunyi Y; Cao, Han H; Peng, Wenjuan W; Sun, Yanyan Y; Liu, Xiaohui X; Li, Bingxiao B; Zhang, Ling L

Publication Date: 2021-06-01

Variant appearance in text: rs5929

PubMed Link: 34074296

Variant Present in the following documents:

• Main text
• 12944_2021_Article_1482.pdf

View BVdb publication page

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Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Journal Of Clinical Medicine

Vlad, Cristiana-Elena CE; Foia, Liliana Georgeta LG; Popescu, Roxana R; Popa, Ioana I; Aanicai, Ruxandra R; Reurean-Pintilei, Delia D; Toma, Vasilica V; Florea, Laura L; Kanbay, Mehmet M; Covic, Adrian A

Publication Date: 2021-03-31

Variant appearance in text: LDLR: 1617C>T; Pro539=

PubMed Link: 33807407

Variant Present in the following documents:

• Main text
• jcm-10-01399.pdf
• jcm-10-01399-s001.pdf

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: LDLR: Pro539Pro; rs5929

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

Plos One

Hayat, Mahtaab M; Kerr, Robyn R; Bentley, Amy R AR; Rotimi, Charles N CN; Raal, Frederick J FJ; Ramsay, Michèle M

Publication Date: 2020

Variant appearance in text: rs5929

PubMed Link: 32084179

Variant Present in the following documents:

• Main text
• pone.0229098.pdf

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: LDLR: 1617C>T; Pro539=

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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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: LDLR: 1617C>T; Pro539=; rs5929

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Large-scale genome-wide enrichment analyses identify new trait-associated genes and pathways across 31 human phenotypes.

Nature Communications

Zhu, Xiang X; Stephens, Matthew M

Publication Date: 2018-10-19

Variant appearance in text: rs5929

PubMed Link: 30341297

Variant Present in the following documents:

• 41467_2018_6805_MOESM1_ESM.pdf

View BVdb publication page

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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: LDLR: 1617C>T; rs5929

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs5929

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: LDLR: 1617C>T; P539P; rs5929

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

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Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology

,

Publication Date: 2015-06-26

Variant appearance in text: LDLR: P539P; rs5929

PubMed Link: 26112015

Variant Present in the following documents:

• 13059_2015_693_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: LDLR: P539P; rs5929

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

Meta Gene

Cymbron, Teresa T; Mendes, Patrícia P; Ramos, Amanda A; Raposo, Mafalda M; Kazachkova, Nadiya N; Medeiros, Ana Margarida AM; Bruges-Armas, Jácome J; Bourbon, Mafalda M; Lima, Manuela M

Publication Date: 2014-12

Variant appearance in text: rs5929

PubMed Link: 25606447

Variant Present in the following documents:

• Main text
• main.pdf

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: LDLR: P539P; rs5929

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Nature Communications

Carmi, Shai S; Hui, Ken Y KY; Kochav, Ethan E; Liu, Xinmin X; Xue, James J; Grady, Fillan F; Guha, Saurav S; Upadhyay, Kinnari K; Ben-Avraham, Dan D; Mukherjee, Semanti S; Bowen, B Monica BM; Thomas, Tinu T; Vijai, Joseph J; Cruts, Marc M; Froyen, Guy G; Lambrechts, Diether D; Plaisance, Stéphane S; Van Broeckhoven, Christine C; Van Damme, Philip P; Van Marck, Herwig H; Barzilai, Nir N; Darvasi, Ariel A; Offit, Kenneth K; Bressman, Susan S; Ozelius, Laurie J LJ; Peter, Inga I; Cho, Judy H JH; Ostrer, Harry H; Atzmon, Gil G; Clark, Lorraine N LN; Lencz, Todd T; Pe'er, Itsik I

Publication Date: 2014-09-09

Variant appearance in text: LDLR: P539P

PubMed Link: 25203624

Variant Present in the following documents:

• ncomms5835-s5.xlsx, sheet 4

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs5929

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Bmc Medical Genetics

Komarova, Tatiana Yu TY; Korneva, Victoria A VA; Kuznetsova, Tatiana Yu TY; Golovina, Alexandra S AS; Vasilyev, Vadim B VB; Mandelshtam, Michail Yu MY

Publication Date: 2013-12-27

Variant appearance in text: LDLR: 1617C>T; Pro539=

PubMed Link: 24373485

Variant Present in the following documents:

• Main text
• 1471-2350-14-128.pdf

View BVdb publication page

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The genetic spectrum of familial hypercholesterolemia in Pakistan.

Clinica Chimica Acta; International Journal Of Clinical Chemistry

Ahmed, Waqas W; Whittall, Ros R; Riaz, Moeen M; Ajmal, Muhammad M; Sadeque, Ahmed A; Ayub, Humaira H; Qamar, Raheel R; Humphries, Steve E SE

Publication Date: 2013-06-05

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 23535506

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA

Publication Date: 2011-03-19

Variant appearance in text: LDLR: 1617C>T; Pro539Pro; rs5929

PubMed Link: 21418584

Variant Present in the following documents:

• Main text
• 1471-2350-12-40.pdf

View BVdb publication page

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Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Journal Of Lipid Research

Miljkovic, I I; Yerges-Armstrong, L M LM; Kuller, L H LH; Kuipers, A L AL; Wang, X X; Kammerer, C M CM; Nestlerode, C S CS; Bunker, C H CH; Patrick, A L AL; Wheeler, V W VW; Evans, R W RW; Zmuda, J M JM

Publication Date: 2010-07

Variant appearance in text: rs5929

PubMed Link: 20308432

Variant Present in the following documents:

• Main text

View BVdb publication page

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Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.

Bmc Medical Genetics

Zakharova, Faina M FM; Damgaard, Dorte D; Mandelshtam, Michail Y MY; Golubkov, Valery I VI; Nissen, Peter H PH; Nilsen, Gitte G GG; Stenderup, Anette A; Lipovetsky, Boris M BM; Konstantinov, Vladimir O VO; Denisenko, Alexander D AD; Vasilyev, Vadim B VB; Faergeman, Ole O

Publication Date: 2005-02-08

Variant appearance in text: LDLR: 1617C>T

PubMed Link: 15701167

Variant Present in the following documents:

• Main text
• 1471-2350-6-6.pdf

View BVdb publication page

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