HBB c.20A>G ;(p.E7G)

Variant ID: 11-5248232-T-C

NM_000518.4(HBB):c.20A>G;(p.E7G)

This variant was identified in 238 publications

View GRCh38 version.




Publications:


The Dantu blood group prevents parasite growth in vivo: Evidence from a controlled human malaria infection study.

Elife
Kariuki, Silvia N SN; Macharia, Alexander W AW; Makale, Johnstone J; Nyamu, Wilfred W; Hoffman, Stephen L SL; Kapulu, Melissa C MC; Bejon, Philip P; Rayner, Julian C JC; Williams, Thomas N TN; ,
Publication Date: 2023-06-13

Variant appearance in text: rs334
PubMed Link: 37310872
Variant Present in the following documents:
  • Main text
  • elife-83874.pdf
View BVdb publication page



Editing the core region in HPFH deletions alters fetal and adult globin expression for treatment of β-hemoglobinopathies.

Molecular Therapy. Nucleic Acids
Venkatesan, Vigneshwaran V; Christopher, Abisha Crystal AC; Rhiel, Manuel M; Azhagiri, Manoj Kumar K MKK; Babu, Prathibha P; Walavalkar, Kaivalya K; Saravanan, Bharath B; Andrieux, Geoffroy G; Rangaraj, Sumathi S; Srinivasan, Saranya S; Karuppusamy, Karthik V KV; Jacob, Annlin A; Bagchi, Abhirup A; Pai, Aswin Anand AA; Nakamura, Yukio Y; Kurita, Ryo R; Balasubramanian, Poonkuzhali P; Pai, Rekha R; Marepally, Srujan Kumar SK; Mohankumar, Kumarasamypet Murugesan KM; Velayudhan, Shaji R SR; Boerries, Melanie M; Notani, Dimple D; Cathomen, Toni T; Srivastava, Alok A; Thangavel, Saravanabhavan S
Publication Date: 2023-06-13

Variant appearance in text: rs334
PubMed Link: 37215154
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Plasmodium falciparum gametocyte carriage in longitudinally monitored incident infections is associated with duration of infection and human host factors.

Scientific Reports
Andolina, Chiara C; Ramjith, Jordache J; Rek, John J; Lanke, Kjerstin K; Okoth, Joseph J; Grignard, Lynn L; Arinaitwe, Emmanuel E; Briggs, Jessica J; Bailey, Jeffrey J; Aydemir, Ozkan O; Kamya, Moses R MR; Greenhouse, Bryan B; Dorsey, Grant G; Staedke, Sarah G SG; Drakeley, Chris C; Jonker, Marianne M; Bousema, Teun T
Publication Date: 2023-05-01

Variant appearance in text: rs334
PubMed Link: 37127688
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_33657.pdf
View BVdb publication page



Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.

Functional & Integrative Genomics
Joerin-Luque, Iriel A IA; Sukow, Natalie Mary NM; Bucco, Isabela Dall'Oglio ID; Tessaro, Joana Gehlen JG; Lopes, Claudemira Vieira Gusmão CVG; Barbosa, Ana Angélica Leal AAL; Beltrame, Marcia H MH
Publication Date: 2023-03-03

Variant appearance in text: rs334
PubMed Link: 36867305
Variant Present in the following documents:
  • Main text
  • 10142_2023_Article_999.pdf
View BVdb publication page



Genome-wide association study identifies novel candidate malaria resistance genes in Cameroon.

Human Molecular Genetics
Esoh, Kevin K KK; Apinjoh, Tobias O TO; Amambua-Ngwa, Alfred A; Nyanjom, Steven G SG; Chimusa, Emile R ER; Amenga-Etego, Lucas L; Wonkam, Ambroise A; Achidi, Eric A EA
Publication Date: 2023-02-08

Variant appearance in text: rs334
PubMed Link: 36752565
Variant Present in the following documents:
  • Main text
  • ddad026.pdf
View BVdb publication page



The Optimized γ-Globin Lentiviral Vector GGHI-mB-3D Leads to Nearly Therapeutic HbF Levels In Vitro in CD34+ Cells from Sickle Cell Disease Patients.

Viruses
Drakopoulou, Ekati E; Georgomanoli, Maria M; Lederer, Carsten W CW; Panetsos, Fottes F; Kleanthous, Marina M; Voskaridou, Ersi E; Valakos, Dimitrios D; Papanikolaou, Eleni E; Anagnou, Nicholas P NP
Publication Date: 2022-12-05

Variant appearance in text: rs334
PubMed Link: 36560719
Variant Present in the following documents:
  • Main text
  • viruses-14-02716.pdf
View BVdb publication page



Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2 and HBB associated with haemoglobinopathies.

Elife
Tamana, Stella S; Xenophontos, Maria M; Minaidou, Anna A; Stephanou, Coralea C; Harteveld, Cornelis L CL; Bento, Celeste C; Traeger-Synodinos, Joanne J; Fylaktou, Irene I; Yasin, Norafiza Mohd NM; Abdul Hamid, Faidatul Syazlin FS; Esa, Ezalia E; Halim-Fikri, Hashim H; Zilfalil, Bin Alwi BA; Kakouri, Andrea C AC; , ; Kleanthous, Marina M; Kountouris, Petros P
Publication Date: 2022-12-01

Variant appearance in text: HBB: 20A>G
PubMed Link: 36453528
Variant Present in the following documents:
  • elife-79713-supp2.xlsx, sheet 6
  • elife-79713-supp2.xlsx, sheet 14
  • elife-79713-supp2.xlsx, sheet 1
View BVdb publication page



Practice recommendations for the role of physiotherapy in the management of sleep disorders: the 2022 Brazilian Sleep Association Guidelines.

Sleep Science (Sao Paulo, Brazil)
Frange, Cristina C; Franco, Aline Marques AM; Brasil, Evelyn E; Hirata, Raquel Pastrello RP; Lino, Juliana Arcanjo JA; Mortari, Daiana Moreira DM; Ykeda, Daisy Satomi DS; Leocádio-Miguel, Mario André MA; D'Aurea, Carolina Vicaria Rodrigues CVR; Silva, Luciana Oliveira E LOE; Telles, Susana Cristina Lerosa SCL; Furlan, Sofia Fontanello SF; Peruchi, Bruno Búrigo BB; Leite, Camila Ferreira CF; Yagihara, Fabiana Tokie FT; Campos, Leticia Dominguez LD; Ulhôa, Melissa Araújo MA; Cruz, Moara Gomes da Rocha MGDR; Beidacki, Ricardo R; Santos, Ronaldo Batista RB; de Queiroz, Sandra Souza SS; Barreto, Simone S; Piccin, Vivien Schmeling VS; Coelho, Fernando Morgadinho Santos FMS; Studart, Luciana L; Assis, Marcia M; Drager, Luciano F LF
Publication Date: 2022

Variant appearance in text: rs334
PubMed Link: 36419815
Variant Present in the following documents:
  • ssci-15-04-0515.pdf
View BVdb publication page



Nanoparticles targeting hematopoietic stem and progenitor cells: Multimodal carriers for the treatment of hematological diseases.

Frontiers In Genome Editing
Cruz, Luis J LJ; Rezaei, Somayeh S; Grosveld, Frank F; Philipsen, Sjaak S; Eich, Christina C
Publication Date: 2022

Variant appearance in text: rs334
PubMed Link: 36407494
Variant Present in the following documents:
  • fgeed-04-1030285.pdf
View BVdb publication page



Microbial gut evaluation in an angolan paediatric population with sickle cell disease.

Journal Of Cellular And Molecular Medicine
Delgadinho, Mariana M; Ginete, Catarina C; Santos, Brígida B; Mendes, Joana J; Miranda, Armandina A; Vasconcelos, Jocelyne J; Brito, Miguel M
Publication Date: 2022-11

Variant appearance in text: rs334
PubMed Link: 36168945
Variant Present in the following documents:
  • Main text
  • JCMM-26-5360.pdf
View BVdb publication page



SNPMap-An integrated visual SNP interpretation tool.

Frontiers In Genetics
Liu, Miaosen M; Yang, Jian J; Duan, Huilong H; Yu, Lan L; Wu, Dingwen D; Li, Haomin H
Publication Date: 2022

Variant appearance in text: rs334
PubMed Link: 36061173
Variant Present in the following documents:
  • Main text
  • fgene-13-985500.pdf
View BVdb publication page



Etiology of Persistent Microalbuminuria in Nigeria (P_MICRO study): protocol and study design.

Bmc Infectious Diseases
Wester, C William CW; Shepherd, Bryan E BE; Wudil, Usman J UJ; Musa, Baba Maiyaki BM; Ingles, Donna J DJ; Prigmore, Heather L HL; Dankishiya, Faisal S FS; Ahonkhai, Aima A AA; Grema, Bukar A BA; Budge, Philip J PJ; Takakura, Ayumi A; Olabisi, Opeyemi A OA; Winkler, Cheryl A CA; Kopp, Jeffrey B JB; Bonventre, Joseph V JV; Wyatt, Christina M CM; Aliyu, Muktar H MH
Publication Date: 2022-07-04

Variant appearance in text: rs334
PubMed Link: 35787257
Variant Present in the following documents:
  • Main text
  • 12879_2022_Article_7531.pdf
View BVdb publication page



Sickle cell anaemia and severe Plasmodium falciparum malaria: a secondary analysis of the Transfusion and Treatment of African Children Trial (TRACT).

The Lancet. Child & Adolescent Health
Uyoga, Sophie S; Olupot-Olupot, Peter P; Connon, Roisin R; Kiguli, Sarah S; Opoka, Robert O RO; Alaroker, Florence F; Muhindo, Rita R; Macharia, Alexander W AW; Dondorp, Arjen M AM; Gibb, Diana M DM; Walker, A Sarah AS; George, Elizabeth C EC; Maitland, Kathryn K; Williams, Thomas N TN
Publication Date: 2022-09

Variant appearance in text: rs334
PubMed Link: 35785794
Variant Present in the following documents:
  • EMS153590.pdf
View BVdb publication page



Identification of ATP2B4 Regulatory Element Containing Functional Genetic Variants Associated with Severe Malaria.

International Journal Of Molecular Sciences
Nisar, Samia S; Torres, Magali M; Thiam, Alassane A; Pouvelle, Bruno B; Rosier, Florian F; Gallardo, Frederic F; Ka, Oumar O; Mbengue, Babacar B; Diallo, Rokhaya Ndiaye RN; Brosseau, Laura L; Spicuglia, Salvatore S; Dieye, Alioune A; Marquet, Sandrine S; Rihet, Pascal P
Publication Date: 2022-04-27

Variant appearance in text: rs334
PubMed Link: 35563239
Variant Present in the following documents:
  • Main text
  • ijms-23-04849.pdf
View BVdb publication page



Individualized Medicine in Africa: Bringing the Practice Into the Realms of Population Heterogeneity.

Frontiers In Genetics
Hussein, Ayman A AA; Hamad, Reem R; Newport, Melanie J MJ; Ibrahim, Muntaser E ME
Publication Date: 2022

Variant appearance in text: rs334
PubMed Link: 35495155
Variant Present in the following documents:
  • Main text
  • fgene-13-853969.pdf
View BVdb publication page



Racial/ethnic disparities on inflammation and response to methylprednisolone in severe COVID-19 pneumonia.

Bmc Infectious Diseases
Go, Ronaldo C RC; Nyirenda, Themba T; Bojarian, Maryam M; Hosseini, Davood K DK; Kim, Kevin K; Rahim, Mehek M; Paleoudis, Elli G EG; Go, Anna C AC; Han, Zhiyong Z; Sperber, Steven J SJ; Gupta, Anjali A
Publication Date: 2022-03-14

Variant appearance in text: rs334
PubMed Link: 35287602
Variant Present in the following documents:
  • Main text
  • 12879_2022_Article_7237.pdf
View BVdb publication page



The hematopoietic saga of clonality in sickle cell disease.

The Journal Of Clinical Investigation
Stonestrom, Aaron J AJ; Levine, Ross L RL
Publication Date: 2022-03-01

Variant appearance in text: rs334
PubMed Link: 35175224
Variant Present in the following documents:
  • jci-132-158251.pdf
View BVdb publication page



Whole Blood Transcriptome Analysis in Children with Sickle Cell Anemia.

Frontiers In Genetics
Gee, Beatrice E BE; Pearson, Andrea A; Buchanan-Perry, Iris I; Simon, Roger P RP; Archer, David R DR; Meller, Robert R
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 35095995
Variant Present in the following documents:
  • Main text
  • fgene-12-737741.pdf
View BVdb publication page



OMICS in Chronic Kidney Disease: Focus on Prognosis and Prediction.

International Journal Of Molecular Sciences
Provenzano, Michele M; Serra, Raffaele R; Garofalo, Carlo C; Michael, Ashour A; Crugliano, Giuseppina G; Battaglia, Yuri Y; Ielapi, Nicola N; Bracale, Umberto Marcello UM; Faga, Teresa T; Capitoli, Giulia G; Galimberti, Stefania S; Andreucci, Michele M
Publication Date: 2021-12-29

Variant appearance in text: rs334
PubMed Link: 35008760
Variant Present in the following documents:
  • Main text
View BVdb publication page



OMICS in Chronic Kidney Disease: Focus on Prognosis and Prediction.

International Journal Of Molecular Sciences
Provenzano, Michele M; Serra, Raffaele R; Garofalo, Carlo C; Michael, Ashour A; Crugliano, Giuseppina G; Battaglia, Yuri Y; Ielapi, Nicola N; Bracale, Umberto Marcello UM; Faga, Teresa T; Capitoli, Giulia G; Galimberti, Stefania S; Andreucci, Michele M
Publication Date: 2021-12-29

Variant appearance in text: rs334
PubMed Link: 35008760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clonal hematopoiesis in sickle cell disease.

The Journal Of Clinical Investigation
Liggett, L Alexander LA; Cato, Liam D LD; Weinstock, Joshua S JS; Zhang, Yingze Y; Nouraie, S Mehdi SM; Gladwin, Mark T MT; Garrett, Melanie E ME; Ashley-Koch, Allison A; Telen, Marilyn M; Custer, Brian B; Kelly, Shannon S; Dinardo, Carla C; Sabino, Ester C EC; Loureiro, Paula P; Carneiro-Proietti, Anna A; Maximo, Cláudia C; Reiner, Alexander P AP; Abecasis, Gonçalo R GR; Williams, David A DA; Natarajan, Pradeep P; Bick, Alexander G AG; Sankaran, Vijay G VG
Publication Date: 2022-01-06

Variant appearance in text: rs334
PubMed Link: 34990411
Variant Present in the following documents:
  • Main text
View BVdb publication page



APOL1, Sickle Cell Trait, and CKD in the Jackson Heart Study.

Kidney Medicine
Young, Bessie A BA; Wilson, James G JG; Reiner, Alex A; Kestenbaum, Bryan B; Franceschini, Nora N; Bansal, Nisha N; Correa, Adolfo A; Himmelfarb, Jonathan J; Katz, Ronit R
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 34939005
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Malaria protection due to sickle haemoglobin depends on parasite genotype.

Nature
Band, Gavin G; Leffler, Ellen M EM; Jallow, Muminatou M; Sisay-Joof, Fatoumatta F; Ndila, Carolyne M CM; Macharia, Alexander W AW; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Nguyen, Thuy T; Gonçalves, Sónia S; Ariani, Cristina V CV; Stalker, Jim J; Pearson, Richard D RD; Amato, Roberto R; Drury, Eleanor E; Sirugo, Giorgio G; d'Alessandro, Umberto U; Bojang, Kalifa A KA; Marsh, Kevin K; Peshu, Norbert N; Saelens, Joseph W JW; Diakité, Mahamadou M; Taylor, Steve M SM; Conway, David J DJ; Williams, Thomas N TN; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP
Publication Date: 2022-02

Variant appearance in text: rs334
PubMed Link: 34883497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Malaria protection due to sickle haemoglobin depends on parasite genotype.

Nature
Band, Gavin G; Leffler, Ellen M EM; Jallow, Muminatou M; Sisay-Joof, Fatoumatta F; Ndila, Carolyne M CM; Macharia, Alexander W AW; Hubbart, Christina C; Jeffreys, Anna E AE; Rowlands, Kate K; Nguyen, Thuy T; Gonçalves, Sónia S; Ariani, Cristina V CV; Stalker, Jim J; Pearson, Richard D RD; Amato, Roberto R; Drury, Eleanor E; Sirugo, Giorgio G; d'Alessandro, Umberto U; Bojang, Kalifa A KA; Marsh, Kevin K; Peshu, Norbert N; Saelens, Joseph W JW; Diakité, Mahamadou M; Taylor, Steve M SM; Conway, David J DJ; Williams, Thomas N TN; Rockett, Kirk A KA; Kwiatkowski, Dominic P DP
Publication Date: 2021-12-09

Variant appearance in text: rs334
PubMed Link: 34883497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways.

Frontiers In Genetics
Damena, Delesa D; Agamah, Francis E FE; Kimathi, Peter O PO; Kabongo, Ntumba E NE; Girma, Hundaol H; Choga, Wonderful T WT; Golassa, Lemu L; Chimusa, Emile R ER
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 34868193
Variant Present in the following documents:
  • Main text
  • fgene-12-676960.pdf
View BVdb publication page



Similarity-Based Analysis of Allele Frequency Distribution among Multiple Populations Identifies Adaptive Genomic Structural Variants.

Molecular Biology And Evolution
Saitou, Marie M; Masuda, Naoki N; Gokcumen, Omer O
Publication Date: 2022-03-02

Variant appearance in text: rs334
PubMed Link: 34718708
Variant Present in the following documents:
  • Main text
  • msab313.pdf
View BVdb publication page



Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.

Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Publication Date: 2020

Variant appearance in text: rs334
PubMed Link: 34632085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the ‑α 3.7I form of α-thalassaemia using genome-wide microarray data.

Wellcome Open Research
Ndila, Carolyne M CM; Nyirongo, Vysaul V; Macharia, Alexander W AW; Jeffreys, Anna E AE; Rowlands, Kate K; Hubbart, Christina C; Busby, George B J GBJ; Band, Gavin G; Harding, Rosalind M RM; Rockett, Kirk A KA; Williams, Thomas N TN; ,
Publication Date: 2020

Variant appearance in text: rs334
PubMed Link: 34632085
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs334
PubMed Link: 34611362
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polygenic basis and biomedical consequences of telomere length variation.

Nature Genetics
Codd, Veryan V; Wang, Qingning Q; Allara, Elias E; Musicha, Crispin C; Kaptoge, Stephen S; Stoma, Svetlana S; Jiang, Tao T; Hamby, Stephen E SE; Braund, Peter S PS; Bountziouka, Vasiliki V; Budgeon, Charley A CA; Denniff, Matthew M; Swinfield, Chloe C; Papakonstantinou, Manolo M; Sheth, Shilpi S; Nanus, Dominika E DE; Warner, Sophie C SC; Wang, Minxian M; Khera, Amit V AV; Eales, James J; Ouwehand, Willem H WH; Thompson, John R JR; Di Angelantonio, Emanuele E; Wood, Angela M AM; Butterworth, Adam S AS; Danesh, John N JN; Nelson, Christopher P CP; Samani, Nilesh J NJ
Publication Date: 2021-10

Variant appearance in text: rs334
PubMed Link: 34611362
Variant Present in the following documents:
  • Main text
View BVdb publication page



The importance of increasing population diversity in genetic studies of type 2 diabetes and related glycaemic traits.

Diabetologia
Barroso, Inês I
Publication Date: 2021-12

Variant appearance in text: rs334
PubMed Link: 34595549
Variant Present in the following documents:
  • Main text
  • 125_2021_Article_5575.pdf
View BVdb publication page



The importance of increasing population diversity in genetic studies of type 2 diabetes and related glycaemic traits.

Diabetologia
Barroso, Inês I
Publication Date: 2021-12

Variant appearance in text: rs334
PubMed Link: 34595549
Variant Present in the following documents:
  • Main text
  • 125_2021_Article_5575.pdf
View BVdb publication page



Extracellular Vesicles in Sickle Cell Disease: Plasma Concentration, Blood Cell Types Origin Distribution and Biological Properties.

Frontiers In Medicine
Nader, Elie E; Garnier, Yohann Y; Connes, Philippe P; Romana, Marc M
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 34490315
Variant Present in the following documents:
  • Main text
  • fmed-08-728693.pdf
View BVdb publication page



Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.

Journal Of Human Genetics
Sun, Quan Q; Graff, Misa M; Rowland, Bryce B; Wen, Jia J; Huang, Le L; Miller-Fleming, Tyne W TW; Haessler, Jeffrey J; Preuss, Michael H MH; Chai, Jin-Fang JF; Lee, Moa P MP; Avery, Christy L CL; Cheng, Ching-Yu CY; Franceschini, Nora N; Sim, Xueling X; Cox, Nancy J NJ; Kooperberg, Charles C; North, Kari E KE; Li, Yun Y; Raffield, Laura M LM
Publication Date: 2022-02

Variant appearance in text: rs334
PubMed Link: 34376796
Variant Present in the following documents:
  • Main text
  • nihms-1728207.pdf
View BVdb publication page



Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategies.

Journal Of Human Genetics
Sun, Quan Q; Graff, Misa M; Rowland, Bryce B; Wen, Jia J; Huang, Le L; Miller-Fleming, Tyne W TW; Haessler, Jeffrey J; Preuss, Michael H MH; Chai, Jin-Fang JF; Lee, Moa P MP; Avery, Christy L CL; Cheng, Ching-Yu CY; Franceschini, Nora N; Sim, Xueling X; Cox, Nancy J NJ; Kooperberg, Charles C; North, Kari E KE; Li, Yun Y; Raffield, Laura M LM
Publication Date: 2021-08-11

Variant appearance in text: rs334
PubMed Link: 34376796
Variant Present in the following documents:
  • Main text
  • nihms-1728207.pdf
View BVdb publication page



Racial disparities in COVID-19 associated pulmonary embolism: A multicenter cohort study.

Thrombosis Research
Metra, Brandon B; Summer, Ross R; Brooks, Sandra Elaine SE; George, Gautam G; Sundaram, Baskaran B
Publication Date: 2021-09

Variant appearance in text: rs334
PubMed Link: 34274560
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Haplotype-resolved germline and somatic alterations in renal medullary carcinomas.

Genome Medicine
Tan, Kar-Tong KT; Kim, Hyunji H; Carrot-Zhang, Jian J; Zhang, Yuxiang Y; Kim, Won Jun WJ; Kugener, Guillaume G; Wala, Jeremiah A JA; Howard, Thomas P TP; Chi, Yueh-Yun YY; Beroukhim, Rameen R; Li, Heng H; Ha, Gavin G; Alper, Seth L SL; Perlman, Elizabeth J EJ; Mullen, Elizabeth A EA; Hahn, William C WC; Meyerson, Matthew M; Hong, Andrew L AL
Publication Date: 2021-07-14

Variant appearance in text: rs334
PubMed Link: 34261517
Variant Present in the following documents:
  • Main text
View BVdb publication page



Improving statistical power in severe malaria genetic association studies by augmenting phenotypic precision.

Elife
Watson, James A JA; Ndila, Carolyne M CM; Uyoga, Sophie S; Macharia, Alexander A; Nyutu, Gideon G; Mohammed, Shebe S; Ngetsa, Caroline C; Mturi, Neema N; Peshu, Norbert N; Tsofa, Benjamin B; Rockett, Kirk K; Leopold, Stije S; Kingston, Hugh H; George, Elizabeth C EC; Maitland, Kathryn K; Day, Nicholas Pj NP; Dondorp, Arjen M AM; Bejon, Philip P; Williams, Thomas N TN; Holmes, Chris C CC; White, Nicholas J NJ
Publication Date: 2021-07-06

Variant appearance in text: rs334
PubMed Link: 34225842
Variant Present in the following documents:
  • Main text
View BVdb publication page



Unique Polymorphisms at BCL11A, HBS1L-MYB and HBB Loci Associated with HbF in Kuwaiti Patients with Sickle Cell Disease.

Journal Of Personalized Medicine
Akbulut-Jeradi, Nagihan N; Fernandez, Maria Jinky MJ; Al Khaldi, Rasha R; Sukumaran, Jalaja J; Adekile, Adekunle A
Publication Date: 2021-06-17

Variant appearance in text: rs334
PubMed Link: 34204365
Variant Present in the following documents:
  • Main text
  • jpm-11-00567.pdf
View BVdb publication page



Research in Sickle Cell Disease: From Bedside to Bench to Bedside.

Hemasphere
Salinas Cisneros, Gabriel G; Thein, Swee Lay SL
Publication Date: 2021-06

Variant appearance in text: rs334
PubMed Link: 34095767
Variant Present in the following documents:
  • Main text
  • hs9-5-e584.pdf
View BVdb publication page



Genome-based therapeutic interventions for β-type hemoglobinopathies.

Human Genomics
Karamperis, Kariofyllis K; Tsoumpeli, Maria T MT; Kounelis, Fotios F; Koromina, Maria M; Mitropoulou, Christina C; Moutinho, Catia C; Patrinos, George P GP
Publication Date: 2021-06-05

Variant appearance in text: rs334
PubMed Link: 34090531
Variant Present in the following documents:
  • Main text
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: rs334
PubMed Link: 34078906
Variant Present in the following documents:
  • Main text
  • 41525_2021_203_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.

Journal Of Personalized Medicine
Adekile, Adekunle A; Akbulut-Jeradi, Nagihan N; Al Khaldi, Rasha R; Fernandez, Maria Jinky MJ; Sukumaran, Jalaja J
Publication Date: 2021-05-23

Variant appearance in text: rs334
PubMed Link: 34071035
Variant Present in the following documents:
  • Main text
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: rs334
PubMed Link: 34059833
Variant Present in the following documents:
  • Main text
  • EMS120610.pdf
View BVdb publication page



The trans-ancestral genomic architecture of glycemic traits.

Nature Genetics
Chen, Ji J; Spracklen, Cassandra N CN; Marenne, Gaëlle G; Varshney, Arushi A; Corbin, Laura J LJ; Luan, Jian'an J; Willems, Sara M SM; Wu, Ying Y; Zhang, Xiaoshuai X; Horikoshi, Momoko M; Boutin, Thibaud S TS; Mägi, Reedik R; Waage, Johannes J; Li-Gao, Ruifang R; Chan, Kei Hang Katie KHK; Yao, Jie J; Anasanti, Mila D MD; Chu, Audrey Y AY; Claringbould, Annique A; Heikkinen, Jani J; Hong, Jaeyoung J; Hottenga, Jouke-Jan JJ; Huo, Shaofeng S; Kaakinen, Marika A MA; Louie, Tin T; März, Winfried W; Moreno-Macias, Hortensia H; Ndungu, Anne A; Nelson, Sarah C SC; Nolte, Ilja M IM; North, Kari E KE; Raulerson, Chelsea K CK; Ray, Debashree D; Rohde, Rebecca R; Rybin, Denis D; Schurmann, Claudia C; Sim, Xueling X; Southam, Lorraine L; Stewart, Isobel D ID; Wang, Carol A CA; Wang, Yujie Y; Wu, Peitao P; Zhang, Weihua W; Ahluwalia, Tarunveer S TS; Appel, Emil V R EVR; Bielak, Lawrence F LF; Brody, Jennifer A JA; Burtt, Noël P NP; Cabrera, Claudia P CP; Cade, Brian E BE; Chai, Jin Fang JF; Chai, Xiaoran X; Chang, Li-Ching LC; Chen, Chien-Hsiun CH; Chen, Brian H BH; Chitrala, Kumaraswamy Naidu KN; Chiu, Yen-Feng YF; de Haan, Hugoline G HG; Delgado, Graciela E GE; Demirkan, Ayse A; Duan, Qing Q; Engmann, Jorgen J; Fatumo, Segun A SA; Gayán, Javier J; Giulianini, Franco F; Gong, Jung Ho JH; Gustafsson, Stefan S; Hai, Yang Y; Hartwig, Fernando P FP; He, Jing J; Heianza, Yoriko Y; Huang, Tao T; Huerta-Chagoya, Alicia A; Hwang, Mi Yeong MY; Jensen, Richard A RA; Kawaguchi, Takahisa T; Kentistou, Katherine A KA; Kim, Young Jin YJ; Kleber, Marcus E ME; Kooner, Ishminder K IK; Lai, Shuiqing S; Lange, Leslie A LA; Langefeld, Carl D CD; Lauzon, Marie M; Li, Man M; Ligthart, Symen S; Liu, Jun J; Loh, Marie M; Long, Jirong J; Lyssenko, Valeriya V; Mangino, Massimo M; Marzi, Carola C; Montasser, May E ME; Nag, Abhishek A; Nakatochi, Masahiro M; Noce, Damia D; Noordam, Raymond R; Pistis, Giorgio G; Preuss, Michael M; Raffield, Laura L; Rasmussen-Torvik, Laura J LJ; Rich, Stephen S SS; Robertson, Neil R NR; Rueedi, Rico R; Ryan, Kathleen K; Sanna, Serena S; Saxena, Richa R; Schraut, Katharina E KE; Sennblad, Bengt B; Setoh, Kazuya K; Smith, Albert V AV; Sparsø, Thomas T; Strawbridge, Rona J RJ; Takeuchi, Fumihiko F; Tan, Jingyi J; Trompet, Stella S; van den Akker, Erik E; van der Most, Peter J PJ; Verweij, Niek N; Vogel, Mandy M; Wang, Heming H; Wang, Chaolong C; Wang, Nan N; Warren, Helen R HR; Wen, Wanqing W; Wilsgaard, Tom T; Wong, Andrew A; Wood, Andrew R AR; Xie, Tian T; Zafarmand, Mohammad Hadi MH; Zhao, Jing-Hua JH; Zhao, Wei W; Amin, Najaf N; Arzumanyan, Zorayr Z; Astrup, Arne A; Bakker, Stephan J L SJL; Baldassarre, Damiano D; Beekman, Marian M; Bergman, Richard N RN; Bertoni, Alain A; Blüher, Matthias M; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Bowden, Donald W DW; Cai, Qiuyin Q; Campbell, Archie A; Campbell, Harry H; Chang, Yi Cheng YC; de Geus, Eco J C EJC; Dehghan, Abbas A; Du, Shufa S; Eiriksdottir, Gudny G; Farmaki, Aliki Eleni AE; Frånberg, Mattias M; Fuchsberger, Christian C; Gao, Yutang Y; Gjesing, Anette P AP; Goel, Anuj A; Han, Sohee S; Hartman, Catharina A CA; Herder, Christian C; Hicks, Andrew A AA; Hsieh, Chang-Hsun CH; Hsueh, Willa A WA; Ichihara, Sahoko S; Igase, Michiya M; Ikram, M Arfan MA; Johnson, W Craig WC; Jørgensen, Marit E ME; Joshi, Peter K PK; Kalyani, Rita R RR; Kandeel, Fouad R FR; Katsuya, Tomohiro T; Khor, Chiea Chuen CC; Kiess, Wieland W; Kolcic, Ivana I; Kuulasmaa, Teemu T; Kuusisto, Johanna J; Läll, Kristi K; Lam, Kelvin K; Lawlor, Deborah A DA; Lee, Nanette R NR; Lemaitre, Rozenn N RN; Li, Honglan H; , ; Lin, Shih-Yi SY; Lindström, Jaana J; Linneberg, Allan A; Liu, Jianjun J; Lorenzo, Carlos C; Matsubara, Tatsuaki T; Matsuda, Fumihiko F; Mingrone, Geltrude G; Mooijaart, Simon S; Moon, Sanghoon S; Nabika, Toru T; Nadkarni, Girish N GN; Nadler, Jerry L JL; Nelis, Mari M; Neville, Matt J MJ; Norris, Jill M JM; Ohyagi, Yasumasa Y; Peters, Annette A; Peyser, Patricia A PA; Polasek, Ozren O; Qi, Qibin Q; Raven, Dennis D; Reilly, Dermot F DF; Reiner, Alex A; Rivideneira, Fernando F; Roll, Kathryn K; Rudan, Igor I; Sabanayagam, Charumathi C; Sandow, Kevin K; Sattar, Naveed N; Schürmann, Annette A; Shi, Jinxiu J; Stringham, Heather M HM; Taylor, Kent D KD; Teslovich, Tanya M TM; Thuesen, Betina B; Timmers, Paul R H J PRHJ; Tremoli, Elena E; Tsai, Michael Y MY; Uitterlinden, Andre A; van Dam, Rob M RM; van Heemst, Diana D; van Hylckama Vlieg, Astrid A; van Vliet-Ostaptchouk, Jana V JV; Vangipurapu, Jagadish J; Vestergaard, Henrik H; Wang, Tao T; Willems van Dijk, Ko K; Zemunik, Tatijana T; Abecasis, Gonçalo R GR; Adair, Linda S LS; Aguilar-Salinas, Carlos Alberto CA; Alarcón-Riquelme, Marta E ME; An, Ping P; Aviles-Santa, Larissa L; Becker, Diane M DM; Beilin, Lawrence J LJ; Bergmann, Sven S; Bisgaard, Hans H; Black, Corri C; Boehnke, Michael M; Boerwinkle, Eric E; Böhm, Bernhard O BO; Bønnelykke, Klaus K; Boomsma, D I DI; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Canouil, Mickaël M; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Cheng, Ching-Yu CY; Collins, Francis S FS; Correa, Adolfo A; Cucca, Francesco F; de Silva, H Janaka HJ; Dedoussis, George G; Elmståhl, Sölve S; Evans, Michele K MK; Ferrannini, Ele E; Ferrucci, Luigi L; Florez, Jose C JC; Franks, Paul W PW; Frayling, Timothy M TM; Froguel, Philippe P; Gigante, Bruna B; Goodarzi, Mark O MO; Gordon-Larsen, Penny P; Grallert, Harald H; Grarup, Niels N; Grimsgaard, Sameline S; Groop, Leif L; Gudnason, Vilmundur V; Guo, Xiuqing X; Hamsten, Anders A; Hansen, Torben T; Hayward, Caroline C; Heckbert, Susan R SR; Horta, Bernardo L BL; Huang, Wei W; Ingelsson, Erik E; James, Pankow S PS; Jarvelin, Marjo-Ritta MR; Jonas, Jost B JB; Jukema, J Wouter JW; Kaleebu, Pontiano P; Kaplan, Robert R; Kardia, Sharon L R SLR; Kato, Norihiro N; Keinanen-Kiukaanniemi, Sirkka M SM; Kim, Bong-Jo BJ; Kivimaki, Mika M; Koistinen, Heikki A HA; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Kuh, Diana D; Kumari, Meena M; Kutalik, Zoltan Z; Laakso, Markku M; Lakka, Timo A TA; Launer, Lenore J LJ; Leander, Karin K; Li, Huaixing H; Lin, Xu X; Lind, Lars L; Lindgren, Cecilia C; Liu, Simin S; Loos, Ruth J F RJF; Magnusson, Patrik K E PKE; Mahajan, Anubha A; Metspalu, Andres A; Mook-Kanamori, Dennis O DO; Mori, Trevor A TA; Munroe, Patricia B PB; Njølstad, Inger I; O'Connell, Jeffrey R JR; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pedersen, Oluf O; Pennell, Craig E CE; Porteous, David J DJ; Pramstaller, Peter P PP; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Raffel, Leslie J LJ; Rauramaa, Rainer R; Redline, Susan S; Ridker, Paul M PM; Rosendaal, Frits R FR; Saaristo, Timo E TE; Sandhu, Manjinder M; Saramies, Jouko J; Schneiderman, Neil N; Schwarz, Peter P; Scott, Laura J LJ; Selvin, Elizabeth E; Sever, Peter P; Shu, Xiao-Ou XO; Slagboom, P Eline PE; Small, Kerrin S KS; Smith, Blair H BH; Snieder, Harold H; Sofer, Tamar T; Sørensen, Thorkild I A TIA; Spector, Tim D TD; Stanton, Alice A; Steves, Claire J CJ; Stumvoll, Michael M; Sun, Liang L; Tabara, Yasuharu Y; Tai, E Shyong ES; Timpson, Nicholas J NJ; Tönjes, Anke A; Tuomilehto, Jaakko J; Tusie, Teresa T; Uusitupa, Matti M; van der Harst, Pim P; van Duijn, Cornelia C; Vitart, Veronique V; Vollenweider, Peter P; Vrijkotte, Tanja G M TGM; Wagenknecht, Lynne E LE; Walker, Mark M; Wang, Ya X YX; Wareham, Nick J NJ; Watanabe, Richard M RM; Watkins, Hugh H; Wei, Wen B WB; Wickremasinghe, Ananda R AR; Willemsen, Gonneke G; Wilson, James F JF; Wong, Tien-Yin TY; Wu, Jer-Yuarn JY; Xiang, Anny H AH; Yanek, Lisa R LR; Yengo, Loïc L; Yokota, Mitsuhiro M; Zeggini, Eleftheria E; Zheng, Wei W; Zonderman, Alan B AB; Rotter, Jerome I JI; Gloyn, Anna L AL; McCarthy, Mark I MI; Dupuis, Josée J; Meigs, James B JB; Scott, Robert A RA; Prokopenko, Inga I; Leong, Aaron A; Liu, Ching-Ti CT; Parker, Stephen C J SCJ; Mohlke, Karen L KL; Langenberg, Claudia C; Wheeler, Eleanor E; Morris, Andrew P AP; Barroso, Inês I; ,
Publication Date: 2021-06

Variant appearance in text: rs334
PubMed Link: 34059833
Variant Present in the following documents:
  • Main text
  • EMS120610.pdf
View BVdb publication page



Diagnostic Accuracy of HemotypeSC as a Point-of-Care Testing Device for Sickle Cell Disease: Findings from a Southwestern State in Nigeria and Implications for Patient Care in Resource-Poor Settings of sub-Saharan Africa.

Global Pediatric Health
Olatunya, Oladele S OS; Albuquerque, Dulcinea M DM; Fagbamigbe, Adeniyi F AF; Faboya, Opeyemi A OA; Ajibola, Ayotunde E AE; Babalola, Oluwatoyin A OA; Adebisi, Adewale O AO; Falusi, Adeyinka G AG; Adekile, Adekunle A; Costa, Fernando F FF
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 34046518
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage.

The Journal Of Clinical Investigation
Page, Grier P GP; Kanias, Tamir T; Guo, Yuelong J YJ; Lanteri, Marion C MC; Zhang, Xu X; Mast, Alan E AE; Cable, Ritchard G RG; Spencer, Bryan R BR; Kiss, Joseph E JE; Fang, Fang F; Endres-Dighe, Stacy M SM; Brambilla, Donald D; Nouraie, Mehdi M; Gordeuk, Victor R VR; Kleinman, Steve S; Busch, Michael P MP; Gladwin, Mark T MT; ,
Publication Date: 2021-07-01

Variant appearance in text: rs334
PubMed Link: 34014839
Variant Present in the following documents:
  • Main text
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Detectable Unmetabolized Folic Acid and Elevated Folate Concentrations in Folic Acid-Supplemented Canadian Children With Sickle Cell Disease.

Frontiers In Nutrition
Williams, Brock A BA; Mayer, Cara C; McCartney, Heather H; Devlin, Angela M AM; Lamers, Yvonne Y; Vercauteren, Suzanne M SM; Wu, John K JK; Karakochuk, Crystal D CD
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 33968971
Variant Present in the following documents:
  • Main text
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IFN-λ4 genetic variants influence clinical malaria episodes in a cohort of Kenyan children.

Malaria Journal
Samayoa-Reyes, Gabriela G; Jackson, Conner C; Ogolla, Sidney S; Sabourin, Katherine K; Obajemu, Adeola A; Dent, Arlene E AE; Prokunina-Olsson, Ludmilla L; Rochford, Rosemary R
Publication Date: 2021-04-21

Variant appearance in text: rs334
PubMed Link: 33882912
Variant Present in the following documents:
  • Main text
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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.

Plos One
Zhuo, Xinming X; Wang, Qun Q; Vossaert, Liesbeth L; Salman, Roseen R; Kim, Adriel A; Van den Veyver, Ignatia I; Breman, Amy A; Beaudet, Arthur A
Publication Date: 2021

Variant appearance in text: rs334
PubMed Link: 33857205
Variant Present in the following documents:
  • Main text
View BVdb publication page



IFN-λ4 is associated with increased risk and earlier occurrence of several common infections in African children.

Genes And Immunity
Prokunina-Olsson, Ludmila L; Morrison, Robert D RD; Obajemu, Adeola A; Mahamar, Almahamoudou A; Kim, Sungduk S; Attaher, Oumar O; Florez-Vargas, Oscar O; Sidibe, Youssoufa Y; Onabajo, Olusegun O OO; Hutchinson, Amy A AA; Manning, Michelle M; Kwan, Jennifer J; Brand, Nathan N; Dicko, Alassane A; Fried, Michal M; Albert, Paul S PS; Mbulaiteye, Sam M SM; Duffy, Patrick E PE
Publication Date: 2021-05

Variant appearance in text: rs334
PubMed Link: 33850301
Variant Present in the following documents:
  • Main text
View BVdb publication page



Haematological abnormalities in children with sickle cell disease and non-severe malaria infection in western Kenya.

Bmc Infectious Diseases
Kosiyo, Paul P; Otieno, Walter W; Gitaka, Jesse J; Munde, Elly O EO; Ouma, Collins C
Publication Date: 2021-04-07

Variant appearance in text: rs334
PubMed Link: 33827455
Variant Present in the following documents:
  • Main text
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Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans.

Human Molecular Genetics
Fatumo, Segun S; Chikowore, Tinashe T; Kalyesubula, Robert R; Nsubuga, Rebecca N RN; Asiki, Gershim G; Nashiru, Oyekanmi O; Seeley, Janet J; Crampin, Amelia C AC; Nitsch, Dorothea D; Smeeth, Liam L; Kaleebu, Pontiano P; Burgess, Stephen S; Nyirenda, Moffat M; Franceschini, Nora N; Morris, Andrew P AP; Tomlinson, Laurie L; Newton, Robert R
Publication Date: 2021-07-28

Variant appearance in text: rs334
PubMed Link: 33783510
Variant Present in the following documents:
  • Main text
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Malaria is a cause of iron deficiency in African children.

Nature Medicine
Muriuki, John Muthii JM; Mentzer, Alexander J AJ; Mitchell, Ruth R; Webb, Emily L EL; Etyang, Anthony O AO; Kyobutungi, Catherine C; Morovat, Alireza A; Kimita, Wandia W; Ndungu, Francis M FM; Macharia, Alex W AW; Ngetsa, Caroline J CJ; Makale, Johnstone J; Lule, Swaib A SA; Musani, Solomon K SK; Raffield, Laura M LM; Cutland, Clare L CL; Sirima, Sodiomon B SB; Diarra, Amidou A; Tiono, Alfred B AB; Fried, Michal M; Gwamaka, Moses M; Adu-Afarwuah, Seth S; Wirth, James P JP; Wegmüller, Rita R; Madhi, Shabir A SA; Snow, Robert W RW; Hill, Adrian V S AVS; Rockett, Kirk A KA; Sandhu, Manjinder S MS; Kwiatkowski, Dominic P DP; Prentice, Andrew M AM; Byrd, Kendra A KA; Ndjebayi, Alex A; Stewart, Christine P CP; Engle-Stone, Reina R; Green, Tim J TJ; Karakochuk, Crystal D CD; Suchdev, Parminder S PS; Bejon, Philip P; Duffy, Patrick E PE; Davey Smith, George G; Elliott, Alison M AM; Williams, Thomas N TN; Atkinson, Sarah H SH
Publication Date: 2021-04

Variant appearance in text: rs334
PubMed Link: 33619371
Variant Present in the following documents:
  • Main text
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Genetic variation in the immune system and malaria susceptibility in infants: a nested case-control study in Nanoro, Burkina Faso.

Malaria Journal
Natama, Hamatandi Magloire HM; Rovira-Vallbona, Eduard E; Krit, Meryam M; Guetens, Pieter P; Sorgho, Hermann H; Somé, M Athanase MA; Traoré-Coulibaly, Maminata M; Valéa, Innocent I; Mens, Petra F PF; Schallig, Henk D F H HDFH; Berkvens, Dirk D; Kestens, Luc L; Tinto, Halidou H; Rosanas-Urgell, Anna A
Publication Date: 2021-02-16

Variant appearance in text: rs334
PubMed Link: 33593344
Variant Present in the following documents:
  • Main text
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Implications of hematopoietic stem cells heterogeneity for gene therapies.

Gene Therapy
Epah, Jeremy J; Schäfer, Richard R
Publication Date: 2021-09

Variant appearance in text: rs334
PubMed Link: 33589780
Variant Present in the following documents:
  • Main text
  • 41434_2021_Article_229.pdf
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Implications of hematopoietic stem cells heterogeneity for gene therapies.

Gene Therapy
Epah, Jeremy J; Schäfer, Richard R
Publication Date: 2021-09

Variant appearance in text: rs334
PubMed Link: 33589780
Variant Present in the following documents:
  • Main text
  • 41434_2021_Article_229.pdf
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Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection.

Scientific Reports
Esoh, Kevin K KK; Apinjoh, Tobias O TO; Nyanjom, Steven G SG; Wonkam, Ambroise A; Chimusa, Emile R ER; Amenga-Etego, Lucas L; Amambua-Ngwa, Alfred A; Achidi, Eric A EA
Publication Date: 2021-01-13

Variant appearance in text: rs334
PubMed Link: 33441574
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_79124.pdf
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Association between inflammatory molecules, nitric oxide metabolites and leg ulcers in individuals with sickle cell anemia.

Hematology, Transfusion And Cell Therapy
Belisário, André Rolim AR; Mendes-Oliveira, Franciane F; de Souza, Valquíria Reis VR; Bolina-Santos, Eduarda E; Mendes, Fabíola Gomes FG; Moreno, Elizabeth Castro EC; Franca, Alice Timponi AT; Sabino, Ester Cerdeira EC; Otta, Dayane Andriotti DA; de Faria, Elaine Speziali ES; Coelho-Dos-Reis, Jordana Grazziela Alves JGA; Martins-Filho, Olindo Assis OA; Carneiro-Proietti, Anna Bárbara AB
Publication Date: 2022

Variant appearance in text: rs334
PubMed Link: 33371972
Variant Present in the following documents:
  • Main text
  • main.pdf
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High-throughput genotyping assays for identification of glycophorin B deletion variants in population studies.

Experimental Biology And Medicine (Maywood, N.J.)
Amuzu, Dominic Sy DS; Rockett, Kirk A KA; Leffler, Ellen M EM; Ansah, Felix F; Amoako, Nicholas N; Morang'a, Collins M CM; Hubbart, Christina C; Rowlands, Kate K; Jeffreys, Anna E AE; Amenga-Etego, Lucas N LN; Kwiatkowski, Dominic P DP; Awandare, Gordon A GA
Publication Date: 2021-04

Variant appearance in text: rs334
PubMed Link: 33325748
Variant Present in the following documents:
  • Main text
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Surveillance for sickle cell disease, United Republic of Tanzania.

Bulletin Of The World Health Organization
Ambrose, Emmanuela E EE; Smart, Luke R LR; Charles, Mwesige M; Hernandez, Arielle G AG; Latham, Teresa T; Hokororo, Adolfine A; Beyanga, Medard M; Howard, Thad A TA; Kamugisha, Erasmus E; McElhinney, Kathryn E KE; Tebuka, Erius E; Ware, Russell E RE
Publication Date: 2020-12-01

Variant appearance in text: rs334
PubMed Link: 33293746
Variant Present in the following documents:
  • Main text
  • BLT.20.253583.pdf
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