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Irene Roberts

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Articles 117
Citations 4561
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Recent Articles
1.
Feldman E, Li Y, Cutler D, Rosser T, Wechsler S, Sanclemente L, et al.
medRxiv . 2024 Sep; PMID: 39281767
Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated...
2.
Coates T, Roberts I
Blood . 2024 Aug; 144(8):797-798. PMID: 39172444
No abstract available.
3.
Iskander D, Karadimitris A, Roberts I
Exp Hematol . 2024 May; 135:104235. PMID: 38740323
The emergence of multiomic single-cell technologies over the last decade has led to improved insights into both normal hematopoiesis and its perturbation in a variety of hematological disorders. Diamond-Blackfan anemia...
4.
Schapira M, Koury M, Roberts I
Swiss Med Wkly . 2024 Apr; 154:3829. PMID: 38616700
No abstract available.
5.
de Smith A, Wiemels J, Mead A, Roberts I, Roy A, Spector L
Leukemia . 2023 Dec; 38(2):416-419. PMID: 38123697
No abstract available.
6.
Pagnamenta A, Camps C, Giacopuzzi E, Taylor J, Hashim M, Calpena E, et al.
Genome Med . 2023 Nov; 15(1):94. PMID: 37946251
Background: Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting,...
7.
Crump N, Smith A, Godfrey L, Dopico-Fernandez A, Denny N, Harman J, et al.
Nat Commun . 2023 Aug; 14(1):5208. PMID: 37626123
Aberrant enhancer activation is a key mechanism driving oncogene expression in many cancers. While much is known about the regulation of larger chromosome domains in eukaryotes, the details of enhancer-promoter...
8.
Goh I, Botting R, Rose A, Webb S, Engelbert J, Gitton Y, et al.
Science . 2023 Aug; 381(6659):eadd7564. PMID: 37590359
The extraembryonic yolk sac (YS) ensures delivery of nutritional support and oxygen to the developing embryo but remains ill-defined in humans. We therefore assembled a comprehensive multiomic reference of the...
9.
Baruchel A, Bourquin J, Crispino J, Cuartero S, Hasle H, Hitzler J, et al.
Haematologica . 2023 Jul; 108(10):2570-2581. PMID: 37439336
Children with Down syndrome (DS, trisomy 21) are at a significantly higher risk of developing acute leukemia compared to the overall population. Many studies investigating the link between trisomy 21...
10.
Roberts I
Hematology Am Soc Hematol Educ Program . 2022 Dec; 2022(1):1-8. PMID: 36485097
Children with Down syndrome (DS) have a greater than 100-fold increased risk of developing acute myeloid leukemia (ML) and an approximately 30-fold increased risk of acute lymphoblastic leukemia (ALL) before...