HBB c.20A>T ;(p.E7V)

Variant ID: 11-5248232-T-A

NM_000518.4(HBB):c.20A>T;(p.E7V)

This variant was identified in 334 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



Compound heterozygosity for Hb C/Hb S (HBB: c.19G>A/HBB: c.20A>T) diseases observed in a Syrian family: a case report.

Annals Of Medicine And Surgery (2012)
Moassas, Faten F; Daboul, Amir A; Assád, Manar M; Murad, Hossam H
Publication Date: 2023-04

Variant appearance in text: HBB: 20A>T
PubMed Link: 37113902
Variant Present in the following documents:
  • Main text
  • ms9-85-1184.pdf
View BVdb publication page



A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.

Plos One
Tesorero, Rafael R; Janda, Joachim J; Hörster, Friederike F; Feyh, Patrik P; Mütze, Ulrike U; Hauke, Jana J; Schwarz, Kathrin K; Kunz, Joachim B JB; Hoffmann, Georg F GF; Okun, Jürgen G JG
Publication Date: 2023

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 36897914
Variant Present in the following documents:
  • Main text
  • pone.0283024.s004.pdf
  • pone.0283024.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



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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



Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: HBB: 20A>T; E7V
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 1
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



A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders.

Npj Genomic Medicine
Zhu, Wenjuan W; Wang, Chen C; Mullapudi, Nandita N; Cao, Yanan Y; Li, Lin L; Lo, Ivan Fai Man IFM; Tsui, Stephen Kwok-Wing SK; Chen, Xiao X; Lei, Yong Y; Gu, Shen S
Publication Date: 2022-12-19

Variant appearance in text: HBB: Glu7Val
PubMed Link: 36535936
Variant Present in the following documents:
  • 41525_2022_Article_344.pdf
View BVdb publication page



Practical Guidance for the Use of Voxelotor in the Management of Sickle Cell Disease.

Journal Of Blood Medicine
Barriteau, Christina M CM; Badawy, Sherif M SM
Publication Date: 2022

Variant appearance in text: HBB: 20A>T
PubMed Link: 36471678
Variant Present in the following documents:
  • jbm-13-739.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>T
PubMed Link: 36453528
Variant Present in the following documents:
  • elife-79713-supp2.xlsx, sheet 14
  • elife-79713-supp2.xlsx, sheet 6
  • elife-79713-supp2.xlsx, sheet 3
  • 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



Biomarkers of sickle cell nephropathy in Senegal.

Plos One
Ndour, El Hadji Malick EHM; Mnika, Khuthala K; Tall, Fatou Guèye FG; Seck, Moussa M; Ly, Indou Dème ID; Nembaware, Victoria V; Mazandu, Gaston Kuzamunu GK; Sagna Bassène, Hélène Ange Thérèse HAT; Dione, Rokhaya R; Ndongo, Aliou Abdoulaye AA; Diop, Jean Pascal Demba JPD; Barry, Nènè Oumou Kesso NOK; Djité, Moustapha M; Ndiaye Diallo, Rokhaya R; Guèye, Papa Madièye PM; Diop, Saliou S; Diagne, Ibrahima I; Cissé, Aynina A; Wonkam, Ambroise A; Lopez Sall, Philomène P
Publication Date: 2022

Variant appearance in text: HBB: 20A>T; Glu7Val; rs334
PubMed Link: 36409722
Variant Present in the following documents:
  • Main text
  • pone.0273745.pdf
  • pone.0273745.s006.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: HBB: 20A>T; rs334
PubMed Link: 36407494
Variant Present in the following documents:
  • Main text
  • fgeed-04-1030285.pdf
View BVdb publication page



Tricky TRIC: A replication study using trophoblast retrieval and isolation from the cervix to study genetic birth defects.

Prenatal Diagnosis
van Dijk, Marie M; Boussata, Souad S; Janssen, Dianta D; Afink, Gijs G; Jebbink, Jiska J; van Maarle, Merel M; Wortelboer, Esther E; Kooper, Angelique A; Pajkrt, Eva E
Publication Date: 2022-11-06

Variant appearance in text: HBB: 20A>T
PubMed Link: 36336875
Variant Present in the following documents:
  • PD-42-1612-s001.pdf
  • PD-42-1612.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



Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.

Human Reproduction (Oxford, England)
van Dijk, Wanwisa W; Derks, Kasper K; Drüsedau, Marion M; Meekels, Jeroen J; Koeck, Rebekka R; Essers, Rick R; Dreesen, Joseph J; Coonen, Edith E; de Die-Smulders, Christine C; Stevens, Servi J C SJC; Brunner, Han G HG; van den Wijngaard, Arthur A; Paulussen, Aimée D C ADC; Zamani Esteki, Masoud M
Publication Date: 2022-10-31

Variant appearance in text: HBB: 20A>T
PubMed Link: 36149256
Variant Present in the following documents:
  • deac208_supplementary_table_sii.xlsx, sheet 1
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



World Sickle Cell Day 2022: Progress & prospects.

The Indian Journal Of Medical Research
Steinberg, Martin H MH
Publication Date: 2022-08-10

Variant appearance in text: HBB: glu7val
PubMed Link: 35946231
Variant Present in the following documents:
  • IJMR-156-10.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



Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors.

Genes
Singh, Gurmukteshwar G; Gohh, Reginald R; Clark, Dinah D; Kalra, Kartik K; Das, Manoj M; Bradauskaite, Gitana G; Bleyer, Anthony J AJ; Tanriover, Bekir B; Chang, Alex R AR; Anand, Prince M PM
Publication Date: 2022-03-26

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 35456398
Variant Present in the following documents:
  • Main text
  • genes-13-00592.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
  • pcbi.1010013.s002.xlsx, sheet 2
View BVdb publication page



Best practices for the interpretation and reporting of clinical whole genome sequencing.

Npj Genomic Medicine
Austin-Tse, Christina A CA; Jobanputra, Vaidehi V; Perry, Denise L DL; Bick, David D; Taft, Ryan J RJ; Venner, Eric E; Gibbs, Richard A RA; Young, Ted T; Barnett, Sarah S; Belmont, John W JW; Boczek, Nicole N; Chowdhury, Shimul S; Ellsworth, Katarzyna A KA; Guha, Saurav S; Kulkarni, Shashikant S; Marcou, Cherisse C; Meng, Linyan L; Murdock, David R DR; Rehman, Atteeq U AU; Spiteri, Elizabeth E; Thomas-Wilson, Amanda A; Kearney, Hutton M HM; Rehm, Heidi L HL; ,
Publication Date: 2022-04-08

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 35395838
Variant Present in the following documents:
  • 41525_2022_295_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: HBB: E7V; rs334
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Insights into National Laboratory Newborn Screening and Future Prospects.

Medicina (Kaunas, Lithuania)
Mujamammi, Ahmed H AH
Publication Date: 2022-02-11

Variant appearance in text: HBB: 20A>T
PubMed Link: 35208595
Variant Present in the following documents:
  • medicina-58-00272.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



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: HBB: E7V; rs334
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.

Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21

Variant appearance in text: beta-globin: 20A>T; rs334
PubMed Link: 35064169
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4436.pdf
View BVdb publication page



Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.

Scientific Reports
Kuchenbaecker, Karoline K; Gilly, Arthur A; Suveges, Daniel D; Southam, Lorraine L; Giannakopoulou, Olga O; Kilian, Britt B; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Farmaki, Aliki-Eleni AE; Gurdasani, Deepti D; Kundu, Kousik K; Sandhu, Manjinder S MS; Danesh, John J; Butterworth, Adam A; Barroso, Inês I; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2022-01-21

Variant appearance in text: beta-globin: 20A>T; rs334
PubMed Link: 35064169
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_4436.pdf
View BVdb publication page



Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns.

Hgg Advances
Gold, Nina B NB; Harrison, Steven M SM; Rowe, Jared H JH; Gold, Jessica J; Furutani, Elissa E; Biffi, Alessandra A; Duncan, Christine N CN; Shimamura, Akiko A; Lehmann, Leslie E LE; Green, Robert C RC
Publication Date: 2022-01-13

Variant appearance in text: HBB: 20A>T; Glu7Val
PubMed Link: 35047849
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



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
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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
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Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.

Bmc Genomics
Christopher, Heavenlight H; Burns, Adam A; Josephat, Emmanuel E; Makani, Julie J; Schuh, Anna A; Nkya, Siana S
Publication Date: 2021-12-16

Variant appearance in text: HBB: 20A>T
PubMed Link: 34915846
Variant Present in the following documents:
  • 12864_2021_Article_8220.pdf
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Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.

Bmc Genomics
Christopher, Heavenlight H; Burns, Adam A; Josephat, Emmanuel E; Makani, Julie J; Schuh, Anna A; Nkya, Siana S
Publication Date: 2021-12-16

Variant appearance in text: HBB: 20A>T
PubMed Link: 34915846
Variant Present in the following documents:
  • 12864_2021_Article_8220.pdf
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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
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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
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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
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The Alberta Newborn Screening Approach for Sickle Cell Disease: The Advantages of Molecular Testing.

International Journal Of Neonatal Screening
Zhou, Janet R JR; Ridsdale, Ross R; MacNeil, Lauren L; Lilley, Margaret M; Hoang, Stephanie S; Christian, Susan S; Blumenschein, Pamela P; Wolan, Vanessa V; Bruce, Aisha A; Singh, Gurpreet G; Wright, Nicola N; Parboosingh, Jillian S JS; Lamont, Ryan E RE; Sosova, Iveta I
Publication Date: 2021-11-16

Variant appearance in text: HBB: 20A>T
PubMed Link: 34842602
Variant Present in the following documents:
  • Main text
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Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Genes
Mahmud, Noraesah N; Maffei, Massimo M; Mogni, Massimo M; Forni, Gian Luca GL; Pinto, Valeria Maria VM; Barberio, Giuseppina G; Ungari, Silvana S; Maffè, Antonella A; Curcio, Cristina C; Zanolli, Francesco F; Paventa, Raffaella R; Carta, Mariarosa M; Caleffi, Alberta A; Mercadanti, Mariella M; Maoggi, Sauro S; Ivaldi, Giovanni G; Coviello, Domenico D
Publication Date: 2021-11-19

Variant appearance in text: HBB: 20A>T
PubMed Link: 34828427
Variant Present in the following documents:
  • Main text
  • genes-12-01821.pdf
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A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.

Frontiers In Genetics
Dos Santos, Carolina Maria de Araújo CMA; Heller, Ana Helena AH; Pena, Heloisa Barbosa HB; Pena, Sérgio Danilo Junho SDJ
Publication Date: 2021

Variant appearance in text: HBB: 20A>T
PubMed Link: 34759951
Variant Present in the following documents:
  • Main text
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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
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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
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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
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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
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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
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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
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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
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Evolutionary genetics and acclimatization in nephrology.

Nature Reviews. Nephrology
Adeyemo, Adebowale A AA; Shriner, Daniel D; Bentley, Amy R AR; Gbadegesin, Rasheed A RA; Rotimi, Charles N CN
Publication Date: 2021-12

Variant appearance in text: HBB: 20A>T; rs334
PubMed Link: 34584272
Variant Present in the following documents:
  • Main text
  • 41581_2021_Article_483.pdf
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Evolutionary genetics and acclimatization in nephrology.

Nature Reviews. Nephrology
Adeyemo, Adebowale A AA; Shriner, Daniel D; Bentley, Amy R AR; Gbadegesin, Rasheed A RA; Rotimi, Charles N CN
Publication Date: 2021-12

Variant appearance in text: HBB: 20A>T; rs334
PubMed Link: 34584272
Variant Present in the following documents:
  • Main text
  • 41581_2021_Article_483.pdf
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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
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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
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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
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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
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