Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs6602024

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: rs6602024

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs6602024

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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Obesity-related genetic determinants of stroke.

Brain Communications

Gago-Dominguez, Manuela M; Sobrino, Tomás T; Torres-Español, María M; Calaza, Manuel M; Rodríguez-Castro, Emilio E; Campos, Francisco F; Redondo, Carmen M CM; Castillo, José J; Carracedo, Ángel Á

Publication Date: 2021

Variant appearance in text: rs6602024

PubMed Link: 34550115

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs6602024

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females.

International Journal Of General Medicine

Al Asoom, Lubna Ibrahim LI; Al Afandi, Dina Tariq DT; Al Abdulhadi, Aseel Salah AS; Rafique, Nazish N; Chathoth, Shahanas S; Al Sunni, Ahmad A AA

Publication Date: 2020

Variant appearance in text: rs6602024

PubMed Link: 32547165

Variant Present in the following documents:

• Main text
• ijgm-13-235.pdf

View BVdb publication page

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Sexual Dimorphism of a Genetic Risk Score for Obesity and Related Traits among Chinese Patients with Type 2 Diabetes.

Obesity Facts

Kong, Xiaomu X; Xing, Xiaoyan X; Zhang, Xuelian X; Hong, Jing J; Yang, Wenying W

Publication Date: 2019

Variant appearance in text: rs6602024

PubMed Link: 31167208

Variant Present in the following documents:

• Main text

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: rs6602024

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Impact of body weight, low energy diet and gastric bypass on drug bioavailability, cardiovascular risk factors and metabolic biomarkers: protocol for an open, non-randomised, three-armed single centre study (COCKTAIL).

Bmj Open

Hjelmesæth, Jøran J; Åsberg, Anders A; Andersson, Shalini S; Sandbu, Rune R; Robertsen, Ida I; Johnson, Line Kristin LK; Angeles, Philip Carlo PC; Hertel, Jens Kristoffer JK; Skovlund, Eva E; Heijer, Maria M; Ek, Anna-Lena AL; Krogstad, Veronica V; Karlsen, Tor-Ivar TI; Christensen, Hege H; Andersson, Tommy B TB; Karlsson, Cecilia C

Publication Date: 2018-05-29

Variant appearance in text: rs6602024

PubMed Link: 29844102

Variant Present in the following documents:

• bmjopen-2018-021878.draft_revisions.pdf

View BVdb publication page

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Interactions between Genetics and Sugar-Sweetened Beverage Consumption on Health Outcomes: A Review of Gene-Diet Interaction Studies.

Frontiers In Endocrinology

Haslam, Danielle E DE; McKeown, Nicola M NM; Herman, Mark A MA; Lichtenstein, Alice H AH; Dashti, Hassan S HS

Publication Date: 2017

Variant appearance in text: rs6602024

PubMed Link: 29375475

Variant Present in the following documents:

• Main text
• fendo-08-00368.pdf

View BVdb publication page

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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: rs6602024

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Pediatric Obesity and Cardiometabolic Disorders: Risk Factors and Biomarkers.

Ejifcc

Levy, E E; Saenger, A K AK; Steffes, M W MW; Delvin, E E

Publication Date: 2017-03

Variant appearance in text: rs6602024

PubMed Link: 28439216

Variant Present in the following documents:

• Main text
• ejifcc-28-006.pdf

View BVdb publication page

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Sequence variant at 8q24.21 associates with sciatica caused by lumbar disc herniation.

Nature Communications

Bjornsdottir, Gyda G; Benonisdottir, Stefania S; Sveinbjornsson, Gardar G; Styrkarsdottir, Unnur U; Thorleifsson, Gudmar G; Walters, G Bragi GB; Bjornsson, Aron A; Olafsson, Ingvar H IH; Ulfarsson, Elfar E; Vikingsson, Arnor A; Hansdottir, Ragnheidur R; Karlsson, Karl O KO; Rafnar, Thorunn T; Jonsdottir, Ingileif I; Frigge, Michael L ML; Kong, Augustine A; Oddsson, Asmundur A; Masson, Gisli G; Magnusson, Olafur T OT; Gudbjartsson, Tomas T; Stefansson, Hreinn H; Sulem, Patrick P; Gudbjartsson, Daniel D; Thorsteinsdottir, Unnur U; Thorgeirsson, Thorgeir E TE; Stefansson, Kari K

Publication Date: 2017-02-22

Variant appearance in text: rs6602024

PubMed Link: 28223688

Variant Present in the following documents:

• ncomms14265-s1.pdf

View BVdb publication page

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Genetics of Obesity.

Indian Journal Of Clinical Biochemistry : Ijcb

Srivastava, Apurva A; Srivastava, Neena N; Mittal, Balraj B

Publication Date: 2016-10

Variant appearance in text: rs6602024

PubMed Link: 27605733

Variant Present in the following documents:

• Main text

View BVdb publication page

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs6602024

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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Dissecting diabetes/metabolic disease mechanisms using pluripotent stem cells and genome editing tools.

Molecular Metabolism

Teo, Adrian Kee Keong AK; Gupta, Manoj K MK; Doria, Alessandro A; Kulkarni, Rohit N RN

Publication Date: 2015-09

Variant appearance in text: rs6602024

PubMed Link: 26413465

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Genetically predicted body mass index and Alzheimer's disease-related phenotypes in three large samples: Mendelian randomization analyses.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Mukherjee, Shubhabrata S; Walter, Stefan S; Kauwe, John S K JSK; Saykin, Andrew J AJ; Bennett, David A DA; Larson, Eric B EB; Crane, Paul K PK; Glymour, M Maria MM; , ; , ; ,

Publication Date: 2015-12

Variant appearance in text: rs6602024

PubMed Link: 26079416

Variant Present in the following documents:

• Main text

View BVdb publication page

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Interaction between genetic predisposition to adiposity and dietary protein in relation to subsequent change in body weight and waist circumference.

Plos One

Ankarfeldt, Mikkel Z MZ; Larsen, Sofus C SC; Ängquist, Lars L; Husemoen, Lise Lotte N LL; Roswall, Nina N; Overvad, Kim K; Jakobsen, Marianne Uhre MU; Halkjær, Jytte J; Tjønneland, Anne A; Linneberg, Allan A; Toft, Ulla U; Hansen, Torben T; Pedersen, Oluf O; Heitmann, Berit L BL; Astrup, Arne A; Sørensen, Thorkild I A TI

Publication Date: 2014

Variant appearance in text: rs6602024

PubMed Link: 25350854

Variant Present in the following documents:

• Main text
• pone.0110890.pdf

View BVdb publication page

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Obesity-related genomic loci are associated with type 2 diabetes in a Han Chinese population.

Plos One

Kong, Xiaomu X; Zhang, Xuelian X; Zhao, Qi Q; He, Jiang J; Chen, Li L; Zhao, Zhigang Z; Li, Qiang Q; Ge, Jiapu J; Chen, Gang G; Guo, Xiaohui X; Lu, Juming J; Weng, Jianping J; Jia, Weiping W; Ji, Linong L; Xiao, Jianzhong J; Shan, Zhongyan Z; Liu, Jie J; Tian, Haoming H; Ji, Qiuhe Q; Zhu, Dalong D; Zhou, Zhiguang Z; Shan, Guangliang G; Yang, Wenying W

Publication Date: 2014

Variant appearance in text: rs6602024

PubMed Link: 25093408

Variant Present in the following documents:

• Main text
• pone.0104486.pdf

View BVdb publication page

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Genome wide association study: searching for genes underlying body mass index in the Chinese.

Biomedical And Environmental Sciences : Bes

Yang, Fang F; Chen, Xiang Ding XD; Tan, Li Jun LJ; Shen, Jie J; Li, Ding You DY; Zhang, Fang F; Sha, Bao Yong BY; Deng, Hong Wen HW

Publication Date: 2014-05

Variant appearance in text: rs6602024

PubMed Link: 24827717

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic risk factors for BMI and obesity in an ethnically diverse population: results from the population architecture using genomics and epidemiology (PAGE) study.

Obesity (Silver Spring, Md.)

Fesinmeyer, Megan D MD; North, Kari E KE; Ritchie, Marylyn D MD; Lim, Unhee U; Franceschini, Nora N; Wilkens, Lynne R LR; Gross, Myron D MD; Bůžková, Petra P; Glenn, Kimberly K; Quibrera, P Miguel PM; Fernández-Rhodes, Lindsay L; Li, Qiong Q; Fowke, Jay H JH; Li, Rongling R; Carlson, Christopher S CS; Prentice, Ross L RL; Kuller, Lewis H LH; Manson, Joann E JE; Matise, Tara C TC; Cole, Shelley A SA; Chen, Christina T L CT; Howard, Barbara V BV; Kolonel, Laurence N LN; Henderson, Brian E BE; Monroe, Kristine R KR; Crawford, Dana C DC; Hindorff, Lucia A LA; Buyske, Steven S; Haiman, Christopher A CA; Le Marchand, Loic L; Peters, Ulrike U

Publication Date: 2013-04

Variant appearance in text: rs6602024

PubMed Link: 23712987

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reduced genetic influence on childhood obesity in small for gestational age children.

Bmc Medical Genetics

Han, Dug Yeo DY; Murphy, Rinki R; Morgan, Angharad R AR; Lam, Wen Jiun WJ; Thompson, John M D JM; Wall, Clare R CR; Waldie, Karen E KE; Mitchell, Edwin A EA; Ferguson, Lynnette R LR

Publication Date: 2013-01-22

Variant appearance in text: rs6602024

PubMed Link: 23339409

Variant Present in the following documents:

• Main text

View BVdb publication page

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Beyond the fourth wave of genome-wide obesity association studies.

Nutrition & Diabetes

Sandholt, C H CH; Hansen, T T; Pedersen, O O

Publication Date: 2012-07-30

Variant appearance in text: rs6602024

PubMed Link: 23168490

Variant Present in the following documents:

• nutd20129a.pdf

View BVdb publication page

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Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects.

Annals Of The Rheumatic Diseases

Williams, Frances M K FM; Bansal, Aruna T AT; van Meurs, Joyce B JB; Bell, Jordana T JT; Meulenbelt, Ingrid I; Suri, Pradeep P; Rivadeneira, Fernando F; Sambrook, Philip N PN; Hofman, Albert A; Bierma-Zeinstra, Sita S; Menni, Cristina C; Kloppenburg, Margreet M; Slagboom, P Eline PE; Hunter, David J DJ; MacGregor, Alex J AJ; Uitterlinden, Andre G AG; Spector, Tim D TD

Publication Date: 2013-07

Variant appearance in text: rs6602024

PubMed Link: 22993228

Variant Present in the following documents:

• Main text

View BVdb publication page

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TFAP2B influences the effect of dietary fat on weight loss under energy restriction.

Plos One

Stocks, Tanja T; Angquist, Lars L; Banasik, Karina K; Harder, Marie N MN; Taylor, Moira A MA; Hager, Jörg J; Arner, Peter P; Oppert, Jean-Michel JM; Martinez, J Alfredo JA; Polak, Jan J; Rousseau, Francis F; Langin, Dominique D; Rössner, Stephan S; Holst, Claus C; MacDonald, Ian A IA; Kamatani, Yoichiro Y; Pfeiffer, Andreas F H AF; Kunesova, Marie M; Saris, Wim H M WH; Hansen, Torben T; Pedersen, Oluf O; Astrup, Arne A; Sørensen, Thorkild I A TI

Publication Date: 2012

Variant appearance in text: rs6602024

PubMed Link: 22952648

Variant Present in the following documents:

• Main text

View BVdb publication page

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Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.

Bmc Medical Genetics

Morgan, Angharad R AR; Thompson, John M D JM; Murphy, Rinki R; Black, Peter N PN; Lam, Wen-Jiun WJ; Ferguson, Lynnette R LR; Mitchell, Ed A EA

Publication Date: 2010-08-16

Variant appearance in text: rs6602024

PubMed Link: 20712903

Variant Present in the following documents:

• Main text
• 1471-2350-11-125.pdf

View BVdb publication page

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Tests for candidate-gene interaction for longitudinal quantitative traits measured in a large cohort.

Bmc Proceedings

Malzahn, Dörthe D; Balavarca, Yesilda Y; Lozano, Jingky P JP; Bickeböller, Heike H

Publication Date: 2009-12-15

Variant appearance in text: rs6602024

PubMed Link: 20018076

Variant Present in the following documents:

• Main text

View BVdb publication page

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Non-replication of genome-wide based associations between common variants in INSIG2 and PFKP and obesity in studies of 18,014 Danes.

Plos One

Andreasen, Camilla H CH; Mogensen, Mette S MS; Borch-Johnsen, Knut K; Sandbaek, Annelli A; Lauritzen, Torsten T; Sørensen, Thorkild I A TI; Hansen, Lars L; Almind, Katrine K; Jørgensen, Torben T; Pedersen, Oluf O; Hansen, Torben T

Publication Date: 2008-08-06

Variant appearance in text: rs6602024

PubMed Link: 18682847

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association scans identified CTNNBL1 as a novel gene for obesity.

Human Molecular Genetics

Liu, Yong-Jun YJ; Liu, Xiao-Gang XG; Wang, Liang L; Dina, Christian C; Yan, Han H; Liu, Jian-Feng JF; Levy, Shawn S; Papasian, Christopher J CJ; Drees, Betty M BM; Hamilton, James J JJ; Meyre, David D; Delplanque, Jerome J; Pei, Yu-Fang YF; Zhang, Lei L; Recker, Robert R RR; Froguel, Philippe P; Deng, Hong-Wen HW

Publication Date: 2008-06-15

Variant appearance in text: rs6602024

PubMed Link: 18325910

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits.

Plos Genetics

Scuteri, Angelo A; Sanna, Serena S; Chen, Wei-Min WM; Uda, Manuela M; Albai, Giuseppe G; Strait, James J; Najjar, Samer S; Nagaraja, Ramaiah R; Orrú, Marco M; Usala, Gianluca G; Dei, Mariano M; Lai, Sandra S; Maschio, Andrea A; Busonero, Fabio F; Mulas, Antonella A; Ehret, Georg B GB; Fink, Ashley A AA; Weder, Alan B AB; Cooper, Richard S RS; Galan, Pilar P; Chakravarti, Aravinda A; Schlessinger, David D; Cao, Antonio A; Lakatta, Edward E; Abecasis, Gonçalo R GR

Publication Date: 2007-07

Variant appearance in text: rs6602024

PubMed Link: 17658951

Variant Present in the following documents:

• Main text
• pgen.0030115.pdf

View BVdb publication page

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