Area of research
Genetics · Neurology
Research interest
Research interests include Amyotrophic Lateral Sclerosis Research, Down syndrome and intellectual disability research, Neurogenetic and Muscular Disorders Research, and Genetics and Neurodevelopmental Disorders.
Assigning Targetable Molecular Pathways to Transdiagnostic Subgroups Across Autism and Related Neurodevelopmental Disorders
Imagine, Discover, Inspire: Proceedings of the 4th International Conference of the Trisomy 21 Research Society
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons
Creation of de novo cryptic splicing for ALS and FTD precision medicine
The roles of TAF1 in neuroscience and beyond
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Craniofacial dysmorphology in Down syndrome is caused by increased dosage of Dyrk1a and at least three other genes
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation
A landmark-free morphometrics pipeline for high-resolution phenotyping: application to a mouse model of Down syndrome
Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia
Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention
Mice with endogenous TDP‐43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis
Association of Dementia With Mortality Among Adults With Down Syndrome Older Than 35 Years
Trisomy of human chromosome 21 enhances amyloid-β deposition independently of an extra copy of <i>APP</i>
Analysis of motor dysfunction in Down Syndrome reveals motor neuron degeneration
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in ‘FUSDelta14’ knockin mice
Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape
A Syntenic Cross Species Aneuploidy Genetic Screen Links RCAN1 Expression to β-Cell Mitochondrial Dysfunction in Type 2 Diabetes
A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
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