A. Rachubinski

发表

Precocious clonal hematopoiesis in Down syndrome is accompanied by immune dysregulation.

J. Espinosa, M. Galbraith, K. D. Sullivan, 2021, Blood advances.

Multi-Omics Assessment of Genetic Risk for Celiac Disease in Down Syndrome

J. Norris, M. Galbraith, R. Sokol, 2022, medRxiv.

Exome sequencing of 457 autism families recruited online provides evidence for novel ASD genes

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2019 .

Interferon receptor gene dosage determines diverse hallmarks of Down syndrome

J. Espinosa, M. Galbraith, Z. Andrysik, 2022, bioRxiv.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Richard A Marini, Nicole M. Russo-Ponsaran, Deana D. Li, 2018, Neuron.

Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2020, Journal of Autism and Developmental Disorders.

Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome.

Jennifer A. McWilliams, Kimberly R. Jordan, J. Espinosa, 2019, Cell reports.

Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata

C. Dunnick, J. Boldrick, J. Espinosa, 2019, JAAD case reports.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, Bradley P. Coe, 2020, Nature Communications.

Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors

Rani K. Powers, J. Costello, A. Lleó, 2019, Nature Communications.

The co‐occurrence of Down syndrome and autism spectrum disorder: is it because of additional genetic variations?

T. Shaikh, S. Hepburn, K. Gardiner, 2017, Prenatal diagnosis.

The co-occurrence of Down syndrome and autism spectrum disorder : is it due to additional genetic variations ? Running head : Genetic variation in co-occurring Down syndrome and ASD

T. Shaikh, S. Hepburn, K. Gardiner, 2016 .

Generation of reactive oxygen species in 1-methyl-4-phenylpyridinium (MPP+) treated dopaminergic neurons occurs as an NADPH oxidase-dependent two-wave cascade

M. Das, Susan M. Jones, W. Griffin, 2011, Journal of Neuroinflammation.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

William T. Harvey, Richard A Marini, Simon X. Xu, 2021, medRxiv.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Richard A Marini, Simon X. Xu, Nicole M. Russo-Ponsaran, 2019, npj Genomic Medicine.

SPARK: A US Cohort of 50,000 Families to Accelerate Autism Research

Anibal Gutierrez, Robert T. Schultz, Nicholas Carriero, 2018, Neuron.

Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation

Ahwan Pandey, J. Espinosa, A. Pandey, 2017, Scientific Reports.

Cell differentiation modifies the p53 transcriptional program through a combination of gene silencing and constitutive transactivation

Roubina Tatavosian, J. Espinosa, M. Galbraith, 2023, Cell Death & Differentiation.

Trisomy 21 drives production of neurotoxic tryptophan catabolites via the interferon-inducible kynurenine pathway

Rani K. Powers, J. Costello, A. D’Alessandro, 2018, bioRxiv.

Modulating cognitive deficits and tau accumulation in a mouse model of aging Down syndrome through neonatal implantation of neural progenitor cells

K. Maclean, K. Bjugstad, A. Rachubinski, 2012, Experimental Gerontology.

Red blood cell metabolism in Down syndrome: hints on metabolic derangements in aging.

A. D’Alessandro, J. Espinosa, Angela L. Rachubinski, 2017, Blood advances.

Trisomy 21 dysregulates T cell lineages toward an autoimmunity-prone state associated with interferon hyperactivity

J. Espinosa, Keith P. Smith, Eric Butcher, 2019, Proceedings of the National Academy of Sciences.

Effects of Neonatal Neural Progenitor Cell Implantation on Adult Neuroanatomy and Cognition in the Ts65Dn Model of Down Syndrome

S. Crowley, K. Maclean, K. Bjugstad, 2012, PloS one.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Richard A Marini, W. T. Harvey, B. Coe, 2020, Nature Communications.

Sonic Hedgehog Pathway Modulation Normalizes Expression of Olig2 in Rostrally Patterned NPCs With Trisomy 21

J. Espinosa, Zhen Li, T. Haydar, 2021, bioRxiv.

IGF1 deficiency integrates stunted growth and neurodegeneration in Down syndrome

J. Espinosa, M. Galbraith, F. Hickey, 2022, Cell reports.

JAK inhibition for treatment of psoriatic arthritis in Down syndrome

J. Espinosa, Andrew T. Pham, B. Enriquez-Estrada, 2021, Rheumatology.

Triplication of the interferon receptor locus contributes to hallmarks of Down syndrome in a mouse model

J. Espinosa, M. Galbraith, Z. Andrysik, 2023, Nature Genetics.

Interferon hyperactivity impairs cardiogenesis in Down syndrome via downregulation of canonical Wnt signaling

Roubina Tatavosian, J. Espinosa, R. Moldovan, 2023, iScience.

Beliefs in vaccine as causes of autism among SPARK cohort caregivers.

Richard A Marini, Simon X. Xu, Jacob B. Hall, 2020, Vaccine.

Multidimensional definition of the interferonopathy of Down syndrome and its response to JAK inhibition

J. Espinosa, M. Galbraith, Keith P. Smith, 2023, Science advances.

Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes

Richard A Marini, Simon X. Xu, Deana D. Li, 2019, npj Genomic Medicine.

Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes

Richard A Marini, Deana D. Li, B. O’Roak, 2022, Nature Genetics.

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

M. Galbraith, Keith P. Smith, Kelly D. Sullivan, 2024, Nature communications.