Publications:

---

Brain expression quantitative trait locus and network analyses reveal downstream effects and putative drivers for brain-related diseases.

Nature Genetics

de Klein, Niek N; Tsai, Ellen A EA; Vochteloo, Martijn M; Baird, Denis D; Huang, Yunfeng Y; Chen, Chia-Yen CY; van Dam, Sipko S; Oelen, Roy R; Deelen, Patrick P; Bakker, Olivier B OB; El Garwany, Omar O; Ouyang, Zhengyu Z; Marshall, Eric E EE; Zavodszky, Maria I MI; van Rheenen, Wouter W; Bakker, Mark K MK; Veldink, Jan J; Gaunt, Tom R TR; Runz, Heiko H; Franke, Lude L; Westra, Harm-Jan HJ

Publication Date: 2023-02-23

Variant appearance in text: rs1427407

PubMed Link: 36823318

Variant Present in the following documents:

• Main text
• 41588_2023_Article_1300.pdf

View BVdb publication page

---

Role of microRNA in hydroxyurea mediated HbF induction in sickle cell anaemia patients.

Scientific Reports

Kargutkar, Neha N; Sawant-Mulay, Madhavi M; Hariharan, Priya P; Chandrakala, S S; Nadkarni, Anita A

Publication Date: 2023-01-07

Variant appearance in text: rs1427407

PubMed Link: 36611033

Variant Present in the following documents:

• Main text
• 41598_2022_Article_25444.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Fetal-haemoglobin enhancing genotype at BCL11A reduces HbA2 levels in patients with sickle cell anaemia.

Ejhaem

Adeyemo, Titilope A TA; Ojewunmi, Oyesola O OO; Oyetunji, Idayat Ajoke IA; Kalejaiye, Olufunto Olufela OO; Menzel, Stephan S

Publication Date: 2021-08

Variant appearance in text: rs1427407

PubMed Link: 35844678

Variant Present in the following documents:

• Main text
• JHA2-2-459.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 35741184

Variant Present in the following documents:

• Main text
• diagnostics-12-01374.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 35418772

Variant Present in the following documents:

• Main text
• pgpm-15-311.pdf

View BVdb publication page

---

Magnetic Resonance Imaging Quantification of the Liver Iron Burden and Volume Changes Following Treatment With Thalidomide in Patients With Transfusion-Dependent ß-Thalassemia.

Frontiers In Pharmacology

Che, Jinlian J; Luo, Tianying T; Huang, Lan L; Lu, Qiyang Q; Yan, Da D; Meng, Yinying Y; Xie, Jinlan J; Chen, Weihua W; Chen, Jiangming J; Long, Liling L

Publication Date: 2022

Variant appearance in text: rs1427407

PubMed Link: 35250561

Variant Present in the following documents:

• Main text
• fphar-13-810668.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 35126118

Variant Present in the following documents:

• Main text
• fphar-12-779497.pdf

View BVdb publication page

---

Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial.

Signal Transduction And Targeted Therapy

Chen, Jiang-Ming JM; Zhu, Wei-Jian WJ; Liu, Jie J; Wang, Gui-Zhen GZ; Chen, Xiao-Qin XQ; Tan, Yun Y; Xu, Wei-Wei WW; Qu, Li-Wei LW; Li, Jin-Yan JY; Yang, Huan-Ju HJ; Huang, Lan L; Cai, Ning N; Wang, Wei-Da WD; Huang, Ken K; Xu, Jian-Quan JQ; Li, Guo-Hui GH; He, Sheng S; Luo, Tian-Ying TY; Huang, Yi Y; Liu, Song-Hua SH; Wu, Wen-Qiang WQ; Lu, Qi-Yang QY; Zhou, Mei-Guang MG; Chen, Shu-Ying SY; Li, Rong-Lan RL; Hu, Mei-Ling ML; Huang, Ying Y; Wei, Jin-Hua JH; Li, Jun-Min JM; Chen, Sai-Juan SJ; Zhou, Guang-Biao GB

Publication Date: 2021-11-18

Variant appearance in text: rs1427407

PubMed Link: 34795208

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Safety and efficacy of thalidomide in patients with transfusion-dependent β-thalassemia: a randomized clinical trial.

Signal Transduction And Targeted Therapy

Chen, Jiang-Ming JM; Zhu, Wei-Jian WJ; Liu, Jie J; Wang, Gui-Zhen GZ; Chen, Xiao-Qin XQ; Tan, Yun Y; Xu, Wei-Wei WW; Qu, Li-Wei LW; Li, Jin-Yan JY; Yang, Huan-Ju HJ; Huang, Lan L; Cai, Ning N; Wang, Wei-Da WD; Huang, Ken K; Xu, Jian-Quan JQ; Li, Guo-Hui GH; He, Sheng S; Luo, Tian-Ying TY; Huang, Yi Y; Liu, Song-Hua SH; Wu, Wen-Qiang WQ; Lu, Qi-Yang QY; Zhou, Mei-Guang MG; Chen, Shu-Ying SY; Li, Rong-Lan RL; Hu, Mei-Ling ML; Huang, Ying Y; Wei, Jin-Hua JH; Li, Jun-Min JM; Chen, Sai-Juan SJ; Zhou, Guang-Biao GB

Publication Date: 2021-11-18

Variant appearance in text: rs1427407

PubMed Link: 34795208

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 34752669

Variant Present in the following documents:

• Main text
• JCLA-35-e24105.pdf

View BVdb publication page

---

Genetic modifiers of fetal hemoglobin affect the course of sickle cell disease in patients treated with hydroxyurea.

Haematologica

Allard, Pierre P; Alhaj, Nareen N; Lobitz, Stephan S; Cario, Holger H; Jarisch, Andreas A; Grosse, Regine R; Oevermann, Lena L; Hakimeh, Dani D; Tagliaferri, Laura L; Kohne, Elisabeth E; Kopp-Schneider, Annette A; Kulozik, Andreas E AE; Kunz, Joachim B JB

Publication Date: 2022-07-01

Variant appearance in text: rs1427407

PubMed Link: 34706496

Variant Present in the following documents:

• Main text
• 1071577.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 34686692

Variant Present in the following documents:

• Main text
• 41598_2021_Article_169.pdf

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: rs1427407

PubMed Link: 34204365

Variant Present in the following documents:

• Main text
• jpm-11-00567.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 34070036

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Genotypic Diversity among Angolan Children with Sickle Cell Anemia.

International Journal Of Environmental Research And Public Health

Delgadinho, Mariana M; Ginete, Catarina C; Santos, Brígida B; Miranda, Armandina A; Brito, Miguel M

Publication Date: 2021-05-19

Variant appearance in text: rs1427407

PubMed Link: 34069401

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 33990643

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation.

Genome Medicine

Rao, Shuquan S; Yao, Yao Y; Bauer, Daniel E DE

Publication Date: 2021-03-10

Variant appearance in text: rs1427407

PubMed Link: 33691767

Variant Present in the following documents:

• Main text
• 13073_2021_Article_857.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 33293746

Variant Present in the following documents:

• Main text
• BLT.20.253583.pdf

View BVdb publication page

---

Genetic epidemiology of hemoglobinopathies among Iraqi Kurds.

Journal Of Community Genetics

Al-Allawi, Nasir N; Al Allawi, Sarah S; Jalal, Sana D SD

Publication Date: 2021-01

Variant appearance in text: rs1427407

PubMed Link: 33222097

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.

Plos One

Barbanera, Ylenia Y; Arcioni, Francesco F; Lancioni, Hovirag H; La Starza, Roberta R; Cardinali, Irene I; Matteucci, Caterina C; Nofrini, Valeria V; Roetto, Antonella A; Piga, Antonio A; Grammatico, Paola P; Caniglia, Maurizio M; Mecucci, Cristina C; Gorello, Paolo P

Publication Date: 2020

Variant appearance in text: rs1427407

PubMed Link: 33091040

Variant Present in the following documents:

• Main text
• pone.0240632.pdf

View BVdb publication page

---

Sickle cell disease in the era of precision medicine: looking to the future.

Expert Review Of Precision Medicine And Drug Development

Steinberg, Martin H MH; Kumar, Sara S; Murphy, George J GJ; Vanuytsel, Kim K

Publication Date: 2019

Variant appearance in text: rs1427407

PubMed Link: 33015364

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Influence of Oxidative Stress Biomarkers and Genetic Polymorphisms on the Clinical Severity of Hydroxyurea-Free Senegalese Children with Sickle Cell Anemia.

Antioxidants (Basel, Switzerland)

Gueye Tall, Fatou F; Martin, Cyril C; Ndour, El Hadji Malick EHM; Faes, Camille C; Déme Ly, Indou I; Pialoux, Vincent V; Connes, Philippe P; Gueye, Papa Madieye PM; Ndiaye Diallo, Rokhaya R; Renoux, Céline C; Diagne, Ibrahima I; Diop, Pape Amadou PA; Cissé, Aynina A; Sall, Philomène Lopez PL; Joly, Philippe P

Publication Date: 2020-09-14

Variant appearance in text: rs1427407

PubMed Link: 32937882

Variant Present in the following documents:

• Main text
• antioxidants-09-00863.pdf

View BVdb publication page

---

Fetal hemoglobin in sickle cell anemia.

Blood

Steinberg, Martin H MH

Publication Date: 2020-11-19

Variant appearance in text: rs1427407

PubMed Link: 32808012

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity.

Orphanet Journal Of Rare Diseases

Darshana, Thamal T; Bandara, Dayananda D; Nawarathne, Upul U; de Silva, Udaya U; Costa, Yasinta Y; Pushpakumara, Kalavitigoda K; Pathirage, Sumithra S; Basnayake, Seuwandi S; Epa, Chamila C; Dilrukshi, Pradeepa P; Wijayawardena, Maheshaka M; Anthony, Angela A AA; Rodrigo, Rexan R; Manamperi, Aresha A; Smith, Frances F; Allen, Angela A; Menzel, Stephan S; Rees, David D; Premawardhena, Anuja A

Publication Date: 2020-07-06

Variant appearance in text: rs1427407

PubMed Link: 32631379

Variant Present in the following documents:

• Main text

View BVdb publication page

---

High fetal hemoglobin level is associated with increased risk of cerebral vasculopathy in children with sickle cell disease in Mayotte.

Bmc Pediatrics

Chamouine, Abdourahim A; Saandi, Thoueiba T; Muszlak, Mathias M; Larmaraud, Juliette J; Lambrecht, Laurent L; Poisson, Jean J; Balicchi, Julien J; Pissard, Serge S; Elenga, Narcisse N

Publication Date: 2020-06-20

Variant appearance in text: rs1427407

PubMed Link: 32563256

Variant Present in the following documents:

• Main text
• 12887_2020_Article_2187.pdf

View BVdb publication page

---

In The Blood: Connecting Variant to Function In Human Hematopoiesis.

Trends In Genetics : Tig

Nandakumar, Satish K SK; Liao, Xiaotian X; Sankaran, Vijay G VG

Publication Date: 2020-08

Variant appearance in text: rs1427407

PubMed Link: 32534791

Variant Present in the following documents:

• Main text

View BVdb publication page

---

BCL11A: a potential diagnostic biomarker and therapeutic target in human diseases.

Bioscience Reports

Yin, Jiawei J; Xie, Xiaoli X; Ye, Yufu Y; Wang, Lijuan L; Che, Fengyuan F

Publication Date: 2019-11-29

Variant appearance in text: rs1427407

PubMed Link: 31654056

Variant Present in the following documents:

• Main text
• bsr-39-bsr20190604.pdf

View BVdb publication page

---

Why, Who, When, and How? Rationale for Considering Allogeneic Stem Cell Transplantation in Children with Sickle Cell Disease.

Journal Of Clinical Medicine

Bernaudin, Françoise F

Publication Date: 2019-09-22

Variant appearance in text: rs1427407

PubMed Link: 31546720

Variant Present in the following documents:

• Main text
• jcm-08-01523.pdf

View BVdb publication page

---

Kidney ultrasound findings according to kidney function in sickle cell anemia.

American Journal Of Hematology

Patel, Rishi R; Kang, Sandra S; Valeshabad, Ali Kord AK; Shah, Binal N BN; Han, Jin J; Gowhari, Michel M; Molokie, Robert E RE; Xie, Karen K; Lash, James P JP; Gordeuk, Victor R VR; Saraf, Santosh L SL

Publication Date: 2019-11

Variant appearance in text: rs1427407

PubMed Link: 31379007

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Hydroxyurea alters hematological, biochemical and inflammatory biomarkers in Brazilian children with SCA: Investigating associations with βS haplotype and α-thalassemia.

Plos One

Yahouédéhou, Sètondji Cocou Modeste Alexandre SCMA; da Guarda, Caroline Conceição CC; Figueiredo, Camylla Vilas Boas CVB; Santiago, Rayra Pereira RP; Carvalho, Suellen Pinheiro SP; Fiuza, Luciana Magalhães LM; Ndidi, Uche Samuel US; Oliveira, Rodrigo Mota RM; Carvalho, Magda Oliveira Seixas MOS; Nascimento, Valma Maria Lopes VML; Rocha, Larissa Carneiro LC; Lyra, Isa Menezes IM; Adorno, Elisângela Vitória EV; Goncalves, Marilda Souza MS

Publication Date: 2019

Variant appearance in text: rs1427407

PubMed Link: 31306416

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 31286593

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 31115947

Variant Present in the following documents:

• Main text
• HUMU-40-1768.pdf

View BVdb publication page

---

BCL11A rs1427407 Genotypes in Sickle Cell Anemia Patients Undergo to Stroke Problems in Sudan.

Korean Journal Of Family Medicine

Hassan, Fathelrahman Mahdi FM; Al-Zahrani, Faisal Mousa FM

Publication Date: 2019-01

Variant appearance in text: rs1427407

PubMed Link: 30563311

Variant Present in the following documents:

• Main text
• kjfm-17-0144.pdf

View BVdb publication page

---

A survey of genetic fetal-haemoglobin modifiers in Nigerian patients with sickle cell anaemia.

Plos One

Adeyemo, Titilope A TA; Ojewunmi, Oyesola O OO; Oyetunji, Idat A IA; Rooks, Helen H; Rees, David C DC; Akinsulie, Adebola O AO; Akanmu, Alani S AS; Thein, Swee Lay SL; Menzel, Stephan S

Publication Date: 2018

Variant appearance in text: rs1427407

PubMed Link: 29879141

Variant Present in the following documents:

• Main text
• pone.0197927.pdf

View BVdb publication page

---

Association of the independent polymorphisms in CDKN2A with susceptibility of acute lymphoblastic leukemia.

Bioscience Reports

Zhou, Xueyan X; Liao, Fei F; Zhang, Junlong J; Qin, Yun Y; Xu, Heng H; Ding, Zhenyu Z; Zhang, Yan Y; Zhang, Feng F

Publication Date: 2018-06-29

Variant appearance in text: rs1427407

PubMed Link: 29654170

Variant Present in the following documents:

• Main text
• bsr-38-bsr20180331.pdf

View BVdb publication page

---

Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea.

Blood Advances

Bernaudin, Françoise F; Arnaud, Cécile C; Kamdem, Annie A; Hau, Isabelle I; Lelong, Françoise F; Epaud, Ralph R; Pondarré, Corinne C; Pissard, Serge S

Publication Date: 2018-03-27

Variant appearance in text: rs1427407

PubMed Link: 29555644

Variant Present in the following documents:

• Main text

View BVdb publication page

---

g(HbF): a genetic model of fetal hemoglobin in sickle cell disease.

Blood Advances

Gardner, Kate K; Fulford, Tony T; Silver, Nicholas N; Rooks, Helen H; Angelis, Nikolaos N; Allman, Marlene M; Nkya, Siana S; Makani, Julie J; Howard, Jo J; Kesse-Adu, Rachel R; Rees, David C DC; Stuart-Smith, Sara S; Yeghen, Tullie T; Awogbade, Moji M; Sangeda, Raphael Z RZ; Mgaya, Josephine J; Patel, Hamel H; Newhouse, Stephen S; Menzel, Stephan S; Thein, Swee Lay SL

Publication Date: 2018-02-13

Variant appearance in text: rs1427407

PubMed Link: 29437638

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Associations of α-thalassemia and BCL11A with stroke in Nigerian, United States, and United Kingdom sickle cell anemia cohorts.

Blood Advances

Saraf, Santosh L SL; Akingbola, Titilola S TS; Shah, Binal N BN; Ezekekwu, Chinedu A CA; Sonubi, Omowunmi O; Zhang, Xu X; Hsu, Lewis L LL; Gladwin, Mark T MT; Machado, Roberto F RF; Cooper, Richard S RS; Gordeuk, Victor R VR; Tayo, Bamidele O BO

Publication Date: 2017-04-25

Variant appearance in text: rs1427407

PubMed Link: 28868518

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.

American Journal Of Hematology

Habara, Alawi H AH; Shaikho, Elmutaz M EM; Steinberg, Martin H MH

Publication Date: 2017-11

Variant appearance in text: rs1427407

PubMed Link: 28736939

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 28669403

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Molecular basis of β thalassemia and potential therapeutic targets.

Blood Cells, Molecules & Diseases

Thein, Swee Lay SL

Publication Date: 2018-05

Variant appearance in text: rs1427407

PubMed Link: 28651846

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: rs1427407

PubMed Link: 28612458

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Predicting the impact of non-coding variants on DNA methylation.

Nucleic Acids Research

Zeng, Haoyang H; Gifford, David K DK

Publication Date: 2017-06-20

Variant appearance in text: rs1427407

PubMed Link: 28334830

Variant Present in the following documents:

• Main text
• gkx177.pdf

View BVdb publication page

---

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: rs1427407

PubMed Link: 28332727

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The role of BCL11A and HMIP-2 polymorphisms on endogenous and hydroxyurea induced levels of fetal hemoglobin in sickle cell anemia patients from southern Brazil.

Blood Cells, Molecules & Diseases

Friedrisch, João Ricardo JR; Sheehan, Vivien V; Flanagan, Jonathan M JM; Baldan, Alessandro A; Summarell, Carly C Ginter CC; Bittar, Christina Matzembacher CM; Friedrisch, Bruno Kras BK; Wilke, Ianaê Indiara II; Ribeiro, Camila Blos CB; Daudt, Liane Esteves LE; da Rocha Silla, Lucia Mariano LM

Publication Date: 2016-11

Variant appearance in text: rs1427407

PubMed Link: 27838552

Variant Present in the following documents:

• Main text

View BVdb publication page

---

APOL1, α-thalassemia, and BCL11A variants as a genetic risk profile for progression of chronic kidney disease in sickle cell anemia.

Haematologica

Saraf, Santosh L SL; Shah, Binal N BN; Zhang, Xu X; Han, Jin J; Tayo, Bamidele O BO; Abbasi, Taimur T; Ostrower, Adam A; Guzman, Elizabeth E; Molokie, Robert E RE; Gowhari, Michel M; Hassan, Johara J; Jain, Shivi S; Cooper, Richard S RS; Machado, Roberto F RF; Lash, James P JP; Gordeuk, Victor R VR

Publication Date: 2017-01

Variant appearance in text: rs1427407

PubMed Link: 27658436

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.

Omics : A Journal Of Integrative Biology

Mnika, Khuthala K; Pule, Gift D GD; Dandara, Collet C; Wonkam, Ambroise A

Publication Date: 2016-10

Variant appearance in text: rs1427407

PubMed Link: 27636225

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A validated cellular biobank for β-thalassemia.

Journal Of Translational Medicine

Cosenza, Lucia Carmela LC; Breda, Laura L; Breveglieri, Giulia G; Zuccato, Cristina C; Finotti, Alessia A; Lampronti, Ilaria I; Borgatti, Monica M; Chiavilli, Francesco F; Gamberini, Maria Rita MR; Satta, Stefania S; Manunza, Laura L; De Martis, Franca Rosa FR; Moi, Paolo P; Rivella, Stefano S; Gambari, Roberto R; Bianchi, Nicoletta N

Publication Date: 2016-09-02

Variant appearance in text: rs1427407

PubMed Link: 27590532

Variant Present in the following documents:

• 12967_2016_Article_1016.pdf

View BVdb publication page

---

A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.

American Journal Of Hematology

Vathipadiekal, Vinod V; Farrell, John J JJ; Wang, Shuai S; Edward, Heather L HL; Shappell, Heather H; Al-Rubaish, A M AM; Al-Muhanna, Fahad F; Naserullah, Z Z; Alsuliman, A A; Qutub, Hatem Othman HO; Simkin, Irene I; Farrer, Lindsay A LA; Jiang, Zhihua Z; Luo, Hong-Yuan HY; Huang, Shengwen S; Mostoslavsky, Gustavo G; Murphy, George J GJ; Patra, Pradeep K PK; Chui, David H K DH; Alsultan, Abdulrahman A; Al-Ali, Amein K AK; Sebastiani, Paola P; Steinberg, Martin H MH

Publication Date: 2016-11

Variant appearance in text: rs1427407

PubMed Link: 27501013

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Hemoglobin genetics: recent contributions of GWAS and gene editing.

Human Molecular Genetics

Smith, Elenoe C EC; Orkin, Stuart H SH

Publication Date: 2016-10-01

Variant appearance in text: rs1427407

PubMed Link: 27340226

Variant Present in the following documents:

• Main text

View BVdb publication page

---