Publications:

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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: rs6083

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs6083

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs6083

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: rs6083

PubMed Link: 31818908

Variant Present in the following documents:

• Main text
• gutjnl-2019-319313supp002.pdf
• gutjnl-2019-319313.pdf

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Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Molecular Genetics & Genomic Medicine

Barboza-Cerda, María Carmen MC; Barboza-Quintana, Oralia O; Martínez-Aldape, Gerardo G; Garza-Guajardo, Raquel R; Déctor, Miguel Angel MA

Publication Date: 2019-09

Variant appearance in text: rs6083

PubMed Link: 31397093

Variant Present in the following documents:

• Main text
• MGG3-7-e931.pdf

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The Association of Polymorphisms in Circadian Clock and Lipid Metabolism Genes With 2nd Trimester Lipid Levels and Preterm Birth.

Frontiers In Genetics

Kovac, Ursa U; Jasper, Elizabeth A EA; Smith, Caitlin J CJ; Baer, Rebecca J RJ; Bedell, Bruce B; Donovan, Brittney M BM; Weathers, Nancy N; Prosenc Zmrzljak, Ursula U; Jelliffe-Pawlowski, Laura L LL; Rozman, Damjana D; Ryckman, Kelli K KK

Publication Date: 2019

Variant appearance in text: rs6083

PubMed Link: 31249592

Variant Present in the following documents:

• Presentation_1.pdf

View BVdb publication page

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Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs6083

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs6083

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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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: rs6083

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs6083

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs6083

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Association studies of several cholesterol-related genes (ABCA1, CETP and LIPC) with serum lipids and risk of Alzheimer's disease.

Lipids In Health And Disease

Xiao, Zhijie Z; Wang, Juan J; Chen, Weirong W; Wang, Peng P; Zeng, Houlin H; Chen, Weixi W

Publication Date: 2012-11-26

Variant appearance in text: rs6083

PubMed Link: 23181436

Variant Present in the following documents:

• Main text
• 1476-511X-11-163.pdf

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Polymorphisms in the fetal progesterone receptor and a calcium-activated potassium channel isoform are associated with preterm birth in an Argentinian population.

Journal Of Perinatology : Official Journal Of The California Perinatal Association

Mann, P C PC; Cooper, M E ME; Ryckman, K K KK; Comas, B B; Gili, J J; Crumley, S S; Bream, E N A EN; Byers, H M HM; Piester, T T; Schaefer, A A; Christine, P J PJ; Lawrence, A A; Schaa, K L KL; Kelsey, K J P KJ; Berends, S K SK; Momany, A M AM; Gadow, E E; Cosentino, V V; Castilla, E E EE; López Camelo, J J; Saleme, C C; Day, L J LJ; England, S K SK; Marazita, M L ML; Dagle, J M JM; Murray, J C JC

Publication Date: 2013-05

Variant appearance in text: rs6083

PubMed Link: 23018797

Variant Present in the following documents:

• Main text

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Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma.

International Journal Of Ophthalmology

Zhou, Gang G; Liu, Bin B

Publication Date: 2010

Variant appearance in text: rs6083

PubMed Link: 22553514

Variant Present in the following documents:

• Main text

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Genetic polymorphisms in fatty acid metabolism genes and colorectal cancer.

Mutagenesis

Crous-Bou, M M; Rennert, G G; Salazar, R R; Rodriguez-Moranta, F F; Rennert, H S HS; Lejbkowicz, F F; Kopelovich, L L; Lipkin, S M SM; Gruber, S B SB; Moreno, V V

Publication Date: 2012-03

Variant appearance in text: rs6083

PubMed Link: 22294764

Variant Present in the following documents:

• Main text

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Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Journal Of Clinical & Experimental Cardiology

Carlquist, John F JF; McKinney, Jason T JT; Horne, Benjamin D BD; Camp, Nicola J NJ; Cannon-Albright, Lisa L; Muhlestein, Joseph B JB; Hopkins, Paul P; Clarke, Jessica L JL; Mower, Chrissa P CP; Park, James J JJ; Nicholas, Zachary P ZP; Huntinghouse, John A JA; Anderson, Jeffrey L JL

Publication Date: 2011-07-10

Variant appearance in text: rs6083

PubMed Link: 22229114

Variant Present in the following documents:

• Main text

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A genome-wide linkage scan identifies multiple quantitative trait loci for HDL-cholesterol levels in families with premature CAD and MI.

Journal Of Lipid Research

Yang, Rong R; Li, Lin L; Seidelmann, Sara Bretschger SB; Shen, Gong-Qing GQ; Sharma, Sonia S; Rao, Shaoqi S; Abdullah, Kalil G KG; Mackinlay, Kenneth G KG; Elston, Robert C RC; Chen, Qiuyun Q; Topol, Eric J EJ; Wang, Qing Kenneth QK

Publication Date: 2010-06

Variant appearance in text: rs6083

PubMed Link: 20075193

Variant Present in the following documents:

• Main text

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Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes.

European Journal Of Human Genetics : Ejhg

van Hoek, Mandy M; Dallinga-Thie, Geesje M GM; Steyerberg, Ewout W EW; Sijbrands, Eric J G EJ

Publication Date: 2009-11

Variant appearance in text: rs6083

PubMed Link: 19367320

Variant Present in the following documents:

• Main text

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Confronting complexity in late-onset Alzheimer disease: application of two-stage analysis approach addressing heterogeneity and epistasis.

Genetic Epidemiology

Thornton-Wells, Tricia A TA; Moore, Jason H JH; Martin, Eden R ER; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL

Publication Date: 2008-04

Variant appearance in text: rs6083

PubMed Link: 18076107

Variant Present in the following documents:

• Main text

View BVdb publication page

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Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.

Journal Of Perinatology : Official Journal Of The California Perinatal Association

Steffen, K M KM; Cooper, M E ME; Shi, M M; Caprau, D D; Simhan, H N HN; Dagle, J M JM; Marazita, M L ML; Murray, J C JC

Publication Date: 2007-11

Variant appearance in text: rs6083

PubMed Link: 17855807

Variant Present in the following documents:

• Main text

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Lack of association of hepatic lipase polymorphisms with late-onset Alzheimer's disease.

Neurobiology Of Aging

Zhu, Haiyan H; Taylor, Jennie W JW; Bennett, David A DA; Younkin, Steven G SG; Estus, Steven S

Publication Date: 2008-05

Variant appearance in text: rs6083

PubMed Link: 17175070

Variant Present in the following documents:

• Main text

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Physiogenomic analysis of weight loss induced by dietary carbohydrate restriction.

Nutrition & Metabolism

Ruaño, Gualberto G; Windemuth, Andreas A; Kocherla, Mohan M; Holford, Theodore T; Fernandez, Maria Luz ML; Forsythe, Cassandra E CE; Wood, Richard J RJ; Kraemer, William J WJ; Volek, Jeff S JS

Publication Date: 2006-05-15

Variant appearance in text: rs6083

PubMed Link: 16700901

Variant Present in the following documents:

• Main text
• 1743-7075-3-20.pdf

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Single nucleotide polymorphisms in the apolipoprotein B and low density lipoprotein receptor genes affect response to antihypertensive treatment.

Bmc Cardiovascular Disorders

Liljedahl, Ulrika U; Lind, Lars L; Kurland, Lisa L; Berglund, Lars L; Kahan, Thomas T; Syvänen, Ann-Christine AC

Publication Date: 2004-09-28

Variant appearance in text: rs6083

PubMed Link: 15453913

Variant Present in the following documents:

• Main text
• 1471-2261-4-16.pdf

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