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: rs766432

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia.

Diagnostics (Basel, Switzerland)

Mohammad, Siti Nur Nabeela A'ifah SNNA; Iberahim, Salfarina S; Wan Ab Rahman, Wan Suriana WS; Hassan, Mohd Nazri MN; Edinur, Hisham Atan HA; Azlan, Maryam M; Zulkafli, Zefarina Z

Publication Date: 2022-06-02

Variant appearance in text: rs766432

PubMed Link: 35741184

Variant Present in the following documents:

• Main text
• diagnostics-12-01374.pdf

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Genetic predictions of life expectancy in southern Thai patients with β0-thalassemia/Hb E.

Biomedical Reports

Nuinoon, Manit M; Rattanaporn, Patchara P; Benjchareonwong, Thongchai T; Choowet, Anuchit A; Suwanno, Komsai K; Saekoo, Ngamta N; Lekpetch, Krongjit K; Thipthara, Orapan O; Svasti, Saovaros S; Fucharoen, Suthat S

Publication Date: 2022-06

Variant appearance in text: rs766432

PubMed Link: 35620315

Variant Present in the following documents:

• Main text
• br-16-06-01535.pdf

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The Impact of BCL11A Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females.

Pharmacogenomics And Personalized Medicine

Cai, Junhong J; Peng, Siyuan S; Wang, Haibo H; Bao, Shan S

Publication Date: 2022

Variant appearance in text: rs766432

PubMed Link: 35418772

Variant Present in the following documents:

• Main text
• pgpm-15-311.pdf

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Do Genetic Polymorphisms Affect Fetal Hemoglobin (HbF) Levels in Patients With Sickle Cell Anemia Treated With Hydroxyurea? A Systematic Review and Pathway Analysis.

Frontiers In Pharmacology

Sales, Rahyssa Rodrigues RR; Nogueira, Bárbara Lisboa BL; Tosatti, Jéssica Abdo Gonçalves JAG; Gomes, Karina Braga KB; Luizon, Marcelo Rizzatti MR

Publication Date: 2021

Variant appearance in text: rs766432

PubMed Link: 35126118

Variant Present in the following documents:

• Main text
• fphar-12-779497.pdf

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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis

Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z

Publication Date: 2021-12

Variant appearance in text: rs766432

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

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Molecular analysis of alpha- and beta-thalassemia in Meizhou region and comparison of gene mutation spectrum with different regions of southern China.

Journal Of Clinical Laboratory Analysis

Wu, Heming H; Huang, Qingyan Q; Yu, Zhikang Z; Zhong, Zhixiong Z

Publication Date: 2021-12

Variant appearance in text: rs766432

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

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Significance of genetic modifiers of hemoglobinopathies leading towards precision medicine.

Scientific Reports

Hariharan, Priya P; Gorivale, Manju M; Sawant, Pratibha P; Mehta, Pallavi P; Nadkarni, Anita A

Publication Date: 2021-10-22

Variant appearance in text: rs766432

PubMed Link: 34686692

Variant Present in the following documents:

• Main text
• 41598_2021_Article_169.pdf

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Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA2 in β-thalassaemia carriers.

Archives Of Medical Science : Ams

Cyrus, Cyril C; Vatte, Chittibabu C; Chathoth, Shahanas S; Sayed, Abdul Azeez AA; Borgio, J Francis JF; Alrubaish, Mohammed Abdullah MA; Alfalah, Rawan R; Alsaikhan, Jana J; Al Ali, Amein K AK

Publication Date: 2021

Variant appearance in text: rs766432

PubMed Link: 34336034

Variant Present in the following documents:

• Main text
• AMS-17-4-91080.pdf

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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: rs766432

PubMed Link: 34204365

Variant Present in the following documents:

• Main text
• jpm-11-00567.pdf

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Epigenetic Insights and Potential Modifiers as Therapeutic Targets in β-Thalassemia.

Biomolecules

Zakaria, Nur Atikah NA; Islam, Md Asiful MA; Abdullah, Wan Zaidah WZ; Bahar, Rosnah R; Mohamed Yusoff, Abdul Aziz AA; Abdul Wahab, Ridhwan R; Shamsuddin, Shaharum S; Johan, Muhammad Farid MF

Publication Date: 2021-05-18

Variant appearance in text: rs766432

PubMed Link: 34070036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive SNPs for β0-thalassemia/HbE disease severity.

Scientific Reports

Munkongdee, Thongperm T; Tongsima, Sissades S; Ngamphiw, Chumpol C; Wangkumhang, Pongsakorn P; Peerapittayamongkol, Chayanon C; Hashim, Hafizah Binti HB; Fucharoen, Suthat S; Svasti, Saovaros S

Publication Date: 2021-05-14

Variant appearance in text: rs766432

PubMed Link: 33990643

Variant Present in the following documents:

• Main text
• 41598_2021_89641_MOESM1_ESM.pdf
• 41598_2021_Article_89641.pdf

View BVdb publication page

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Epigenetic inactivation of ERF reactivates γ-globin expression in β-thalassemia.

American Journal Of Human Genetics

Bao, Xiuqin X; Zhang, Xinhua X; Wang, Liren L; Wang, Zhongju Z; Huang, Jin J; Zhang, Qianqian Q; Ye, Yuhua Y; Liu, Yongqiong Y; Chen, Diyu D; Zuo, Yangjin Y; Liu, Qifa Q; Xu, Peng P; Huang, Binbin B; Fang, Jianpei J; Lao, Jinquan J; Feng, Xiaoqin X; Li, Yafeng Y; Kurita, Ryo R; Nakamura, Yukio Y; Yu, Weiwei W; Ju, Cunxiang C; Huang, Chunbo C; Mohandas, Narla N; Li, Dali D; Zhao, Cunyou C; Xu, Xiangmin X

Publication Date: 2021-04-01

Variant appearance in text: rs766432

PubMed Link: 33735615

Variant Present in the following documents:

• Main text

View BVdb publication page

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DNA methylation patterns of β-globin cluster in β-thalassemia patients.

Clinical Epigenetics

Bao, Xiuqin X; Zuo, Yangjin Y; Chen, Diyu D; Zhao, Cunyou C

Publication Date: 2020-12-03

Variant appearance in text: rs766432

PubMed Link: 33272312

Variant Present in the following documents:

• Main text
• 13148_2020_Article_987.pdf

View BVdb publication page

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Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes.

Journal Of Clinical Medicine

Steinberg, Martin H MH

Publication Date: 2020-11-23

Variant appearance in text: rs766432

PubMed Link: 33238542

Variant Present in the following documents:

• Main text
• jcm-09-03782.pdf

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LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.

Human Mutation

Zhang, Li L; Zhang, Qianqian Q; Tang, Yaohua Y; Cong, Peikuan P; Ye, Yuhua Y; Chen, Shiping S; Zhang, Xinhua X; Chen, Yan Y; Zhu, Baosheng B; Cai, Wangwei W; Chen, Shaoke S; Cai, Ren R; Guo, Xiaoling X; Zhang, Chonglin C; Zhou, Yuqiu Y; Zou, Jie J; Liu, Yanhui Y; Chen, Biyan B; Yan, Shanhuo S; Chen, Yajun Y; Zhou, Yuehong Y; Ding, Hongmei H; Li, Xiarong X; Chen, Dianyu D; Zhong, Jianmei J; Shang, Xuan X; Liu, Xuanzhu X; Qi, Ming M; Xu, Xiangmin X

Publication Date: 2019-12

Variant appearance in text: rs766432

PubMed Link: 31286593

Variant Present in the following documents:

• Main text

View BVdb publication page

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A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.

Human Mutation

Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kyrri, Andreani A; Hadjigavriel, Michael M; Christou, Soteroula S; Sitarou, Maria M; Kleanthous, Marina M

Publication Date: 2019-10

Variant appearance in text: rs766432

PubMed Link: 31115947

Variant Present in the following documents:

• Main text
• HUMU-40-1768.pdf

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Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies.

Genomics Insights

Kuo, Kevin H M KHM

Publication Date: 2017

Variant appearance in text: rs766432

PubMed Link: 28811740

Variant Present in the following documents:

• Main text
• 10.1177_1178631017721178.pdf

View BVdb publication page

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A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.

American Journal Of Human Genetics

Chen, Diyu D; Zuo, Yangjin Y; Zhang, Xinhua X; Ye, Yuhua Y; Bao, Xiuqin X; Huang, Haiyan H; Tepakhan, Wanicha W; Wang, Lijuan L; Ju, Junyi J; Chen, Guangfu G; Zheng, Mincui M; Liu, Dun D; Huang, Shuodan S; Zong, Lu L; Li, Changgang C; Chen, Yajun Y; Zheng, Chenguang C; Shi, Lihong L; Zhao, Quan Q; Wu, Qiang Q; Fucharoen, Supan S; Zhao, Cunyou C; Xu, Xiangmin X

Publication Date: 2017-07-06

Variant appearance in text: rs766432

PubMed Link: 28669403

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants of HbF in Saudi Arabian and African Benin haplotype sickle cell anemia.

American Journal Of Hematology

Shaikho, Elmutaz M EM; Farrell, John J JJ; Alsultan, Abdulrahman A; Sebastiani, Paola P; Steinberg, Martin H MH

Publication Date: 2017-09

Variant appearance in text: rs766432

PubMed Link: 28612458

Variant Present in the following documents:

• Main text

View BVdb publication page

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Protective BCL11A and HBS1L-MYB polymorphisms in a cohort of 102 Congolese patients suffering from sickle cell anemia.

Journal Of Clinical Laboratory Analysis

Mikobi, Tite Minga TM; Tshilobo Lukusa, Prosper P; Aloni, Michel Ntetani MN; Lumaka, Aimé Zola AZ; Kaba, Didine Kinkodi DK; Devriendt, Koenraad K; Matthijs, Gert G; Mbuyi Muamba, Jean Marie JM; Race, Valérie V

Publication Date: 2018-01

Variant appearance in text: rs766432

PubMed Link: 28332727

Variant Present in the following documents:

• Main text

View BVdb publication page

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Existence of HbF Enhancer Haplotypes at HBS1L-MYB Intergenic Region in Transfusion-Dependent Saudi β-Thalassemia Patients.

Biomed Research International

Cyrus, Cyril C; Vatte, Chittibabu C; Borgio, J Francis JF; Al-Rubaish, Abdullah A; Chathoth, Shahanas S; Nasserullah, Zaki A ZA; Jarrash, Sana Al SA; Sulaiman, Ahmed A; Qutub, Hatem H; Alsaleem, Hassan H; Alzahrani, Alhusain J AJ; Steinberg, Martin H MH; Ali, Amein K Al AK

Publication Date: 2017

Variant appearance in text: rs766432

PubMed Link: 28280727

Variant Present in the following documents:

• Main text
• BMRI2017-1972429.pdf

View BVdb publication page

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Genetic modulation of fetal hemoglobin in hydroxyurea-treated sickle cell anemia.

American Journal Of Hematology

Aleluia, Milena Magalhães MM; Santiago, Rayra Pereira RP; da Guarda, Caroline Conceição CC; Fonseca, Teresa Cristina Cardoso TC; Neves, Fábia Idalina FI; Quinto, Regiana Souza RS; Figueiredo, Camylla Villas Boas CV; Yahouédéhou, Sètondji Cocou Modeste Alexandre SC; Oliveira, Rodrigo Mota RM; Ferreira, Júnia Raquel Dutra JR; Cerqueira, Bruno Antônio Veloso BA; Barbosa, Cynara Gomes CG; Milton, Jacqueline Nicole JN; Steinberg, Martin H MH; de Souza Gonçalves, Marilda M

Publication Date: 2017-05

Variant appearance in text: rs766432

PubMed Link: 28195442

Variant Present in the following documents:

• Main text

View BVdb publication page

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A whole genome analyses of genetic variants in two Kelantan Malay individuals.

The Hugo Journal

Wan Juhari, Wan Khairunnisa WK; Md Tamrin, Nur Aida NA; Mat Daud, Mohd Hanif Ridzuan MH; Isa, Hatin Wan HW; Mohd Nasir, Nurfazreen N; Maran, Sathiya S; Abdul Rajab, Nur Shafawati NS; Ahmad Amin Noordin, Khairul Bariah KB; Nik Hassan, Nik Norliza NN; Tearle, Rick R; Razali, Rozaimi R; Merican, Amir Feisal AF; Zilfalil, Bin Alwi BA

Publication Date: 2014-12

Variant appearance in text: rs766432

PubMed Link: 27090252

Variant Present in the following documents:

• Main text
• 11568_2014_Article_4.pdf

View BVdb publication page

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Original Research: A case-control genome-wide association study identifies genetic modifiers of fetal hemoglobin in sickle cell disease.

Experimental Biology And Medicine (Maywood, N.J.)

Liu, Li L; Pertsemlidis, Alexander A; Ding, Liang-Hao LH; Story, Michael D MD; Steinberg, Martin H MH; Sebastiani, Paola P; Hoppe, Carolyn C; Ballas, Samir K SK; Pace, Betty S BS

Publication Date: 2016-04

Variant appearance in text: rs766432

PubMed Link: 27022141

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels.

Nature Genetics

Danjou, Fabrice F; Zoledziewska, Magdalena M; Sidore, Carlo C; Steri, Maristella M; Busonero, Fabio F; Maschio, Andrea A; Mulas, Antonella A; Perseu, Lucia L; Barella, Susanna S; Porcu, Eleonora E; Pistis, Giorgio G; Pitzalis, Maristella M; Pala, Mauro M; Menzel, Stephan S; Metrustry, Sarah S; Spector, Timothy D TD; Leoni, Lidia L; Angius, Andrea A; Uda, Manuela M; Moi, Paolo P; Thein, Swee Lay SL; Galanello, Renzo R; Abecasis, Gonçalo R GR; Schlessinger, David D; Sanna, Serena S; Cucca, Francesco F

Publication Date: 2015-11

Variant appearance in text: rs766432

PubMed Link: 26366553

Variant Present in the following documents:

• Main text

View BVdb publication page

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Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.

Bmc Genomics

Thareja, Gaurav G; John, Sumi Elsa SE; Hebbar, Prashantha P; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA; Alsmadi, Osama O

Publication Date: 2015-02-18

Variant appearance in text: rs766432

PubMed Link: 25765185

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1233.pdf

View BVdb publication page

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Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.

European Journal Of Human Genetics : Ejhg

Huang, Jiwei J; Zhang, Xinhua X; Liu, Dun D; Wei, Xiaofeng X; Shang, Xuan X; Xiong, Fu F; Yu, Lihua L; Yin, Xiaolin X; Xu, Xiangmin X

Publication Date: 2015-10

Variant appearance in text: rs766432

PubMed Link: 25585695

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetics of hemoglobin A2 regulation in sickle cell anemia.

American Journal Of Hematology

Griffin, Paula J PJ; Sebastiani, Paola P; Edward, Heather H; Baldwin, Clinton T CT; Gladwin, Mark T MT; Gordeuk, Victor R VR; Chui, David H K DH; Steinberg, Martin H MH

Publication Date: 2014-11

Variant appearance in text: rs766432

PubMed Link: 25042611

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics

Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD

Publication Date: 2014-06-27

Variant appearance in text: rs766432

PubMed Link: 24973796

Variant Present in the following documents:

• Main text
• 12864_2013_Article_6258.pdf

View BVdb publication page

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KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia.

Blood

Liu, Dun D; Zhang, Xinhua X; Yu, Lihua L; Cai, Ren R; Ma, Xiaoxia X; Zheng, Chengguang C; Zhou, Yuqiu Y; Liu, Qiji Q; Wei, Xiaofeng X; Lin, Li L; Yan, Tizhen T; Huang, Jiwei J; Mohandas, Narla N; An, Xiuli X; Xu, Xiangmin X

Publication Date: 2014-07-31

Variant appearance in text: rs766432

PubMed Link: 24829204

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of GNB3-C825T, ADRB3-Trp64Arg, UCP2-3'UTR 45 bp del/ins, and PPARγ-Pro12Ala polymorphisms on Bofutsushosan response in obese subjects: a randomized, double-blind, placebo-controlled trial.

Journal Of Medicinal Food

Park, Junghyun J; Bose, Shambhunath S; Hong, Sun-Woo SW; Lee, Dong-Ki DK; Yoo, Jae-Wook JW; Lim, Chi-Yeon CY; Lee, Myeongjong M; Kim, Hojun H

Publication Date: 2014-05

Variant appearance in text: rs766432

PubMed Link: 24827746

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prediction of fetal hemoglobin in sickle cell anemia using an ensemble of genetic risk prediction models.

Circulation. Cardiovascular Genetics

Milton, Jacqueline N JN; Gordeuk, Victor R VR; Taylor, James G JG; Gladwin, Mark T MT; Steinberg, Martin H MH; Sebastiani, Paola P

Publication Date: 2014-04

Variant appearance in text: rs766432

PubMed Link: 24585758

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach.

Bmc Genomics

Fanis, Pavlos P; Kousiappa, Ioanna I; Phylactides, Marios M; Kleanthous, Marina M

Publication Date: 2014-02-06

Variant appearance in text: rs766432

PubMed Link: 24502199

Variant Present in the following documents:

• Main text
• 1471-2164-15-108.pdf

View BVdb publication page

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Emerging science of hydroxyurea therapy for pediatric sickle cell disease.

Pediatric Research

Green, Nancy S NS; Barral, Sandra S

Publication Date: 2014-01

Variant appearance in text: rs766432

PubMed Link: 24252885

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic modulation of HbF in Brazilians with HbSC disease and sickle cell anemia.

American Journal Of Hematology

Barbosa, Cynara G CG; Aleluia, Augusto C M AC; Pacheco, Ana P A S AP; Paz, Silvana S SS; Zanette, Angela M D AM; Lyra, Isa M IM; Steinberg, Martin H MH; Milton, Jacqueline N JN; Goncalves, Marilda S MS

Publication Date: 2013-10

Variant appearance in text: rs766432

PubMed Link: 23828430

Variant Present in the following documents:

• Main text

View BVdb publication page

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Congruence of additive and non-additive effects on gene expression estimated from pedigree and SNP data.

Plos Genetics

Powell, Joseph E JE; Henders, Anjali K AK; McRae, Allan F AF; Kim, Jinhee J; Hemani, Gibran G; Martin, Nicholas G NG; Dermitzakis, Emmanouil T ET; Gibson, Greg G; Montgomery, Grant W GW; Visscher, Peter M PM

Publication Date: 2013-05

Variant appearance in text: rs766432

PubMed Link: 23696747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

Blood Cells, Molecules & Diseases

Ngo, Duyen D; Bae, Harold H; Steinberg, Martin H MH; Sebastiani, Paola P; Solovieff, Nadia N; Baldwin, Clinton T CT; Melista, Efthymia E; Safaya, Surinder S; Farrer, Lindsay A LA; Al-Suliman, Ahmed M AM; Albuali, Waleed H WH; Al Bagshi, Muneer H MH; Naserullah, Zaki Z; Akinsheye, Idowu I; Gallagher, Patrick P; Luo, Hong-yuan HY; Chui, David H K DH; Farrell, John J JJ; Al-Ali, Amein K AK; Alsultan, Abdulrahman A

Publication Date: 2013-06

Variant appearance in text: rs766432

PubMed Link: 23465615

Variant Present in the following documents:

• Main text

View BVdb publication page

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Candidate sequence variants and fetal hemoglobin in children with sickle cell disease treated with hydroxyurea.

Plos One

Green, Nancy S NS; Ender, Katherine L KL; Pashankar, Farzana F; Driscoll, Catherine C; Giardina, Patricia J PJ; Mullen, Craig A CA; Clark, Lorraine N LN; Manwani, Deepa D; Crotty, Jennifer J; Kisselev, Sergey S; Neville, Kathleen A KA; Hoppe, Carolyn C; Barral, Sandra S

Publication Date: 2013

Variant appearance in text: rs766432

PubMed Link: 23409025

Variant Present in the following documents:

• Main text
• pone.0055709.pdf

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Genetic determinants of haemolysis in sickle cell anaemia.

British Journal Of Haematology

Milton, Jacqueline N JN; Rooks, Helen H; Drasar, Emma E; McCabe, Elizabeth L EL; Baldwin, Clinton T CT; Melista, Efi E; Gordeuk, Victor R VR; Nouraie, Mehdi M; Kato, Gregory R GR; Kato, Gregory J GJ; Minniti, Caterina C; Taylor, James J; Campbell, Andrew A; Luchtman-Jones, Lori L; Rana, Sohail S; Castro, Oswaldo O; Zhang, Yingze Y; Thein, Swee Lay SL; Sebastiani, Paola P; Gladwin, Mark T MT; , ; Steinberg, Martin H MH

Publication Date: 2013-04

Variant appearance in text: rs766432

PubMed Link: 23406172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Meta-analysis of 2040 sickle cell anemia patients: BCL11A and HBS1L-MYB are the major modifiers of HbF in African Americans.

Blood

Bae, Harold T HT; Baldwin, Clinton T CT; Sebastiani, Paola P; Telen, Marilyn J MJ; Ashley-Koch, Allison A; Garrett, Melanie M; Hooper, W Craig WC; Bean, Christopher J CJ; Debaun, Michael R MR; Arking, Dan E DE; Bhatnagar, Pallav P; Casella, James F JF; Keefer, Jeffrey Renn JR; Barron-Casella, Emily E; Gordeuk, Victor V; Kato, Gregory J GJ; Minniti, Caterina C; Taylor, James J; Campbell, Andrew A; Luchtman-Jones, Lori L; Hoppe, Carolyn C; Gladwin, Mark T MT; Zhang, Yingze Y; Steinberg, Martin H MH

Publication Date: 2012-08-30

Variant appearance in text: rs766432

PubMed Link: 22936743

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic modifiers of β-thalassemia and clinical severity as assessed by age at first transfusion.

Haematologica

Danjou, Fabrice F; Anni, Franco F; Perseu, Lucia L; Satta, Stefania S; Dessì, Carlo C; Lai, Maria Eliana ME; Fortina, Paolo P; Devoto, Marcella M; Galanello, Renzo R

Publication Date: 2012-07

Variant appearance in text: rs766432

PubMed Link: 22271886

Variant Present in the following documents:

• Main text

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Fetal hemoglobin in sickle cell anemia: molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans.

American Journal Of Hematology

Akinsheye, Idowu I; Solovieff, Nadia N; Ngo, Duyen D; Malek, Anita A; Sebastiani, Paola P; Steinberg, Martin H MH; Chui, David H K DH

Publication Date: 2012-02

Variant appearance in text: rs766432

PubMed Link: 22139998

Variant Present in the following documents:

• Main text

View BVdb publication page

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Beta-thalassemia: from genotype to phenotype.

Haematologica

Danjou, Fabrice F; Anni, Franco F; Galanello, Renzo R

Publication Date: 2011-11

Variant appearance in text: rs766432

PubMed Link: 22058279

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pharmacokinetics, pharmacodynamics, and pharmacogenetics of hydroxyurea treatment for children with sickle cell anemia.

Blood

Ware, Russell E RE; Despotovic, Jenny M JM; Mortier, Nicole A NA; Flanagan, Jonathan M JM; He, Jin J; Smeltzer, Matthew P MP; Kimble, Amy C AC; Aygun, Banu B; Wu, Song S; Howard, Thad T; Sparreboom, Alex A

Publication Date: 2011-11-03

Variant appearance in text: rs766432

PubMed Link: 21876119

Variant Present in the following documents:

• Main text

View BVdb publication page

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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics

Fehrmann, Rudolf S N RS; Jansen, Ritsert C RC; Veldink, Jan H JH; Westra, Harm-Jan HJ; Arends, Danny D; Bonder, Marc Jan MJ; Fu, Jingyuan J; Deelen, Patrick P; Groen, Harry J M HJ; Smolonska, Asia A; Weersma, Rinse K RK; Hofstra, Robert M W RM; Buurman, Wim A WA; Rensen, Sander S; Wolfs, Marcel G M MG; Platteel, Mathieu M; Zhernakova, Alexandra A; Elbers, Clara C CC; Festen, Eleanora M EM; Trynka, Gosia G; Hofker, Marten H MH; Saris, Christiaan G J CG; Ophoff, Roel A RA; van den Berg, Leonard H LH; van Heel, David A DA; Wijmenga, Cisca C; Te Meerman, Gerard J GJ; Franke, Lude L

Publication Date: 2011-08

Variant appearance in text: rs766432

PubMed Link: 21829388

Variant Present in the following documents:

• Main text
• pgen.1002197.pdf

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Fetal hemoglobin in sickle cell anemia.

Blood

Akinsheye, Idowu I; Alsultan, Abdulrahman A; Solovieff, Nadia N; Ngo, Duyen D; Baldwin, Clinton T CT; Sebastiani, Paola P; Chui, David H K DH; Steinberg, Martin H MH

Publication Date: 2011-07-07

Variant appearance in text: rs766432

PubMed Link: 21490337

Variant Present in the following documents:

• Main text

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A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression.

Blood

Farrell, John J JJ; Sherva, Richard M RM; Chen, Zhi-Yi ZY; Luo, Hong-Yuan HY; Chu, Benjamin F BF; Ha, Shau Yin SY; Li, Chi Kong CK; Lee, Anselm C W AC; Li, Rever C H RC; Li, Chi Keung CK; Yuen, Hui Leung HL; So, Jason C C JC; Ma, Edmond S K ES; Chan, Li Chong LC; Chan, Vivian V; Sebastiani, Paola P; Farrer, Lindsay A LA; Baldwin, Clinton T CT; Steinberg, Martin H MH; Chui, David H K DH

Publication Date: 2011-05-05

Variant appearance in text: rs766432

PubMed Link: 21385855

Variant Present in the following documents:

• Main text

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Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients.

Journal Of Human Genetics

Bhatnagar, Pallav P; Purvis, Shirley S; Barron-Casella, Emily E; DeBaun, Michael R MR; Casella, James F JF; Arking, Dan E DE; Keefer, Jeffrey R JR

Publication Date: 2011-04

Variant appearance in text: rs766432

PubMed Link: 21326311

Variant Present in the following documents:

• Main text

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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin.

Nature Genetics

Borg, Joseph J; Papadopoulos, Petros P; Georgitsi, Marianthi M; Gutiérrez, Laura L; Grech, Godfrey G; Fanis, Pavlos P; Phylactides, Marios M; Verkerk, Annemieke J M H AJ; van der Spek, Peter J PJ; Scerri, Christian A CA; Cassar, Wilhelmina W; Galdies, Ruth R; van Ijcken, Wilfred W; Ozgür, Zeliha Z; Gillemans, Nynke N; Hou, Jun J; Bugeja, Marisa M; Grosveld, Frank G FG; von Lindern, Marieke M; Felice, Alex E AE; Patrinos, George P GP; Philipsen, Sjaak S

Publication Date: 2010-09

Variant appearance in text: rs766432

PubMed Link: 20676099

Variant Present in the following documents:

• Main text
• nihms216477.pdf

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Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Blood

Solovieff, Nadia N; Milton, Jacqueline N JN; Hartley, Stephen W SW; Sherva, Richard R; Sebastiani, Paola P; Dworkis, Daniel A DA; Klings, Elizabeth S ES; Farrer, Lindsay A LA; Garrett, Melanie E ME; Ashley-Koch, Allison A; Telen, Marilyn J MJ; Fucharoen, Supan S; Ha, Shau Yin SY; Li, Chi-Kong CK; Chui, David H K DH; Baldwin, Clinton T CT; Steinberg, Martin H MH

Publication Date: 2010-03-04

Variant appearance in text: rs766432

PubMed Link: 20018918

Variant Present in the following documents:

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Geographical genomics of human leukocyte gene expression variation in southern Morocco.

Nature Genetics

Idaghdour, Youssef Y; Czika, Wendy W; Shianna, Kevin V KV; Lee, Sang H SH; Visscher, Peter M PM; Martin, Hilary C HC; Miclaus, Kelci K; Jadallah, Sami J SJ; Goldstein, David B DB; Wolfinger, Russell D RD; Gibson, Greg G

Publication Date: 2010-01

Variant appearance in text: rs766432

PubMed Link: 19966804

Variant Present in the following documents:

• Main text
• nihms157635.pdf

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BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies.

Blood Cells, Molecules & Diseases

Sedgewick, Amanda E AE; Timofeev, Nadia N; Sebastiani, Paola P; So, Jason C C JCC; Ma, Edmond S K ESK; Chan, Li Chong LC; Fucharoen, Goonnapa G; Fucharoen, Supan S; Barbosa, Cynara G CG; Vardarajan, Badri N BN; Farrer, Lindsay A LA; Baldwin, Clinton T CT; Steinberg, Martin H MH; Chui, David H K DHK

Publication Date: 2008

Variant appearance in text: rs766432

PubMed Link: 18691915

Variant Present in the following documents:

• Main text

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