Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, and Congenital heart defects research.
Endosome maturation is orchestrated by inside-out proton signaling through a Na<sup>+</sup>/H<sup>+</sup> exchanger and pH-dependent Rab GTPase cycling.
Endosome maturation is orchestrated by inside-out proton signaling through a Na<sup>+</sup>/H<sup>+</sup> exchanger and pH-dependent Rab GTPase cycling.
Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling
Later Age of Autism Diagnosis in Children with Multiple Co-Occurring Psychiatric Disorders
The pancreatic β-cell incretin response is modulated by mitochondrial transaminase GPT2
A transcriptional biosensor reveals mechanisms of α-ketoglutarate signaling to chromatin
A deep learning model for prediction of autism status using whole-exome sequencing data
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults
Loss of mitochondrial enzyme GPT2 leads to reprogramming of synaptic glutamate metabolism
Christianson syndrome across the lifespan: genetic mutations and longitudinal study in children, adolescents, and adults.
Endosome maturation is orchestrated by inside-out proton signaling through a Na+/H+ exchanger and pH-dependent Rab GTPase cycling
Loss of mitochondrial enzyme GPT2 leads to reprogramming of synaptic glutamate metabolism
Live-Imaging Detection of Multivesicular Body-Plasma Membrane Fusion and Exosome Release in Cultured Primary Neurons
Dynamic Measurement of Endosome-Lysosome Fusion in Neurons Using High-Content Imaging
GGA1 interacts with the endosomal Na+/H+ Exchanger NHE6 governing localization to the endosome compartment
Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults
GGA1 interacts with the endosomal Na+/H+ Exchanger NHE6 governing localization to the endosome compartment
Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid <i>in vitro</i> cell model
Targeting NHE6 gene expression identifies lysosome and neurodevelopmental mechanisms in a haploid in vitro cell model.
Christianson Syndrome across the Lifespan: An International Longitudinal Study in Children, Adolescents, and Adults
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.
Loss of endosomal exchanger NHE6 leads to pathological changes in tau in human neurons
Loss of mitochondrial enzyme GPT2 causes early neurodegeneration in locus coeruleus
Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo.
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis
Parental age and autism severity in the Rhode Island Consortium for Autism Research and Treatment (RI-CART) study.
17q12 deletion syndrome mouse model shows defects in craniofacial, brain and kidney development, and glucose homeostasis.
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain
Loss of Christianson Syndrome Na<sup>+</sup>/H<sup>+</sup> Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons.
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies