The importance of understanding individual differences in Down syndrome

Annette Karmiloff‐Smith, Tamara Al‐Janabi, Hana D’Souza, +9

F1000Research

Acquired mutations in GATA1 in neonates with Down's syndrome with transient myeloid disorder

Jürgen Groet, Suzanne McElwaine, Mônica Glória Neumann Spínelli, +9

The Lancet

Down SyndromeDevelopmental AnomalyDevelopmental BiologyGenetic DisorderMedicine +7

DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

Claudia Canzonetta, Claire Mulligan, Samuel Deutsch, +21

The American Journal of Human Genetics

Down SyndromeDeregulating PluripotencyDevelopmental BiologyMedicineGenetics +4

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

Ivan Alić, Pollyanna Goh, Aoife Murray, +46

Molecular Psychiatry

Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome

Sergey I. Nikolaev, Federico Santoni, Anne Vannier, +8

Blood

Brief Report: Isogenic Induced Pluripotent Stem Cell Lines From an Adult With Mosaic Down Syndrome Model Accelerated Neuronal Ageing and Neurodegeneration

Aoife Murray, Audrey Letourneau, Claudia Canzonetta, +19

Stem Cells

Adult Stem CellCell SpecializationEpigeneticsSocial SciencesNeuroregeneration +18

Microarray transcript profiling distinguishes the transient from the acute type of megakaryoblastic leukaemia (M7) in Down's syndrome, revealing <i>PRAME</i> as a specific discriminating marker

Suzanne McElwaine, Claire Mulligan, Jürgen Groet, +11

British Journal of Haematology

Neurofilament light as a blood biomarker for neurodegeneration in Down syndrome

André Strydom, Amanda Heslegrave, Carla M. Startin, +5

Alzheimer s Research & Therapy

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations

Sergey I. Nikolaev, Marco Garieri, Federico Santoni, +9

Nature Communications

Down SyndromeHematological MalignancyAutoimmune DiseaseMedicineMixed-phenotype Acute Leukemia +6

Loss‐of‐function <i>JAK3</i> mutations in TMD and AMKL of Down syndrome

Serena De Vita, Claire Mulligan, Suzanne McElwaine, +5

British Journal of Haematology