H
Helen Rooks
Researcher at King's College London
Publications - 28
Citations - 1293
Helen Rooks is an academic researcher from King's College London. The author has contributed to research in topics: Single-nucleotide polymorphism & Fetal hemoglobin. The author has an hindex of 14, co-authored 26 publications receiving 1133 citations. Previous affiliations of Helen Rooks include University of Cambridge.
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Journal ArticleDOI
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15.
Stephan Menzel,Chad Garner,Ivo Gut,Fumihiko Matsuda,Masao Yamaguchi,Simon Heath,Mario Foglio,Diana Zelenika,Anne Boland,Helen Rooks,Steve Best,Tim D. Spector,Martin Farrall,G. Mark Lathrop,Swee Lay Thein,Swee Lay Thein +15 more
TL;DR: A genome-wide association mapping strategy is applied to individuals with contrasting extreme trait values and a new F cell quantitative trait locus is mapped to BCL11A, which encodes a zinc-finger protein, on chromosome 2p15.
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HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers.
Ralph Stadhouders,Suleyman Aktuna,Supat Thongjuea,Ali Aghajanirefah,Farzin Pourfarzad,Wilfred F. J. van IJcken,Boris Lenhard,Helen Rooks,Steve Best,Stephan Menzel,Frank Grosveld,Swee Lay Thein,Eric Soler,Eric Soler +13 more
TL;DR: It is found that several HBS1L-MYB intergenic variants reduce transcription factor binding, affecting long-range interactions with MYB and MYB expression levels, and designate MYB as a target for therapeutic induction of HbF to ameliorate sickle cell and β-thalassemia disease severity.
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Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia
Julie Makani,Julie Makani,Stephan Menzel,Siana Nkya,Sharon E. Cox,Sharon E. Cox,Emma Drasar,Emma Drasar,Deogratius Soka,Albert Komba,Josephine Mgaya,Helen Rooks,Nisha Vasavda,Gregory Fegan,Gregory Fegan,Charles R. Newton,Martin Farrall,Swee Lay Thein,Swee Lay Thein +18 more
TL;DR: The results suggest the presence of HBS1L-MYB variants affecting HbF in patients who are not tracked well by European-derived markers, such as rs9399137, may be identified through independent genome-wide association studies in African populations.
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The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells
Karin Wahlberg,Jie Jiang,Helen Rooks,Kiran Jawaid,Fumihiko Matsuda,Fumihiko Matsuda,Masao Yamaguchi,Masao Yamaguchi,Mark Lathrop,Swee Lay Thein,Swee Lay Thein,Steve Best +11 more
TL;DR: This study provides the functional link between genetic association of HMIP with control of fetal hemoglobin and other hematologic parameters and presents a large-scale analysis of histone acetylation as well as RNA polymerase II and GATA-1 interactions on chromosome 6q, and alpha and beta globin gene loci.
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Genome wide association study of fetal hemoglobin in sickle cell anemia in Tanzania.
Siana Nkya Mtatiro,Tarjinder Singh,Helen Rooks,Josephine Mgaya,Harvest Mariki,Deogratius Soka,Bruno P. Mmbando,Evarist Msaki,Iris C. R. M. Kolder,Swee Lay Thein,Stephan Menzel,Sharon E. Cox,Julie Makani,Jeffrey C. Barrett +13 more
TL;DR: A genome-wide association study in 1,213 SCA (HbSS/HbSβ0) patients in Tanzania, which is the largest GWAS study in SCA in Africa, confirmed known associations and identified new genetic associations with HbF that require further replication inSCA populations in Africa.