Publications

The scientists who have led studies supported by the INCLUDE program are already making important discoveries in co-occurring conditions that affect people with Down syndrome. Here are some of the scientific papers that have been published in leading academic journals around the world.

As we complete our list of publications, we invite those featured to review and provide feedback at info@includedcc.org

A mature woman with Down syndrome standing against a wall and smiling
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Journal of speech, language, and hearing research : JSLHR2022
Observational Study to Preliminarily Characterize the Audiological Profile of Children With Down Syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's Association2022
Reduced synaptic proteins and SNARE complexes in Down syndrome with Alzheimer's disease and the Dp16 mouse Down syndrome model: Impact of APP gene dose.
Trends in genetics : TIG2022
A new Down syndrome rat model races forward.
Neurobiology of aging2022
Amyloid- β and tau deposition influences cognitive and functional decline in Down syndrome.
Journal of autism and developmental disorders2022
Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome.
Nature communications2022
Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome.
Alzheimer's & dementia : the journal of the Alzheimer's Association2022
Probing the proteome to explore potential correlates of increased Alzheimer's-related cerebrovascular disease in adults with Down syndrome.
Brain sciences2022
Profiles of Caregiver-Reported Executive Function in Children with Down Syndrome.
International journal of molecular sciences2022
The Underlying Relationship between Keratoconus and Down Syndrome.
Cell reports2022
Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models.
Bone2022
Low bone mass and impaired fracture healing in mouse models of Trisomy21 (Down syndrome).
Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography2022
Visualization and Quantification of the Unrepaired Complete Atrioventricular Canal Valve Using Open-Source Software.
Cell reports2022
Chromosome silencing in vitro reveals trisomy 21 causes cell-autonomous deficits in angiogenesis and early dysregulation in Notch signaling.
Journal of global health2022
Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey.
Frontiers in genetics2022
Hearing impairment in murine model of Down syndrome.
JAMA neurology2022
Detection of Brain Tau Pathology in Down Syndrome Using Plasma Biomarkers.
Blood advances2022
Epigenome-wide association study of acute lymphoblastic leukemia in children with Down syndrome.
The Journal of clinical investigation2022
Dissecting stepwise mutational impairment of megakaryopoiesis in a model of Down syndrome-associated leukemia.
Cell stem cell2022
Type-I-interferon signaling drives microglial dysfunction and senescence in human iPSC models of Down syndrome and Alzheimer's disease.
Neuron2022
Beyond amyloid: Immune, cerebrovascular, and metabolic contributions to Alzheimer disease in people with Down syndrome.
Aging cell2022
Accelerated epigenetic aging in newborns with Down syndrome.
Research in developmental disabilities2022
Associations among co-occurring medical conditions and cognition, language, and behavior in Down syndrome.
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)2022
Ciliary muscle thickness in adults with Down syndrome.
Annals of neurology2022
Commentary on Oeckl et al., "Serum Beta-Synuclein Is Higher in Down Syndrome and Precedes Rise of pTau181".
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