Area of research
Genetics · Cognitive Neuroscience
Research interest
Research interests include Genetics and Neurodevelopmental Disorders, Autism Spectrum Disorder Research, Genomics and Rare Diseases, and Congenital heart defects research.
Examining Genetic Variants Associated with FOXP1 Syndrome through Molecular Dynamics of Its DNA-Binding Domain and Self-Organizing Maps
Deleterious coding variation associated with autism is shared across ancestries
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene DDX3X
A subpopulation of cortical neurons altered by mutations in the autism risk gene <i>DDX3X</i>
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
Impact of Genetic Variants Associated with Neurodevelopmental Disorders on the WAVE Regulatory Complex
Expanding the understanding of DDX3X-related neurodevelopmental disorder in males
Common characteristics of variants linked to autism spectrum disorder in the WAVE regulatory complex
Neuronal diversity and stereotypy at multiple scales through whole brain morphometry
<scp>DDX3X</scp> syndrome: From clinical phenotypes to biological insights
Molecular basis of the <scp>CYFIP2</scp> and <scp>NCKAP1</scp> autism‐linked variants in the <scp>WAVE</scp> regulatory complex
Sex-specific perturbations of neuronal development caused by mutations in the autism risk gene <i>DDX3X</i>
Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Celf4 controls mRNA translation underlying synaptic development in the prenatal mammalian neocortex
Altered striatal actin dynamics drives behavioral inflexibility in a mouse model of fragile X syndrome
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
Nuclear RNA catabolism controls endogenous retroviruses, gene expression asymmetry, and dedifferentiation
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Full-Spectrum Neuronal Diversity and Stereotypy through Whole Brain Morphometry
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases
Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4
<i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Author Correction: Clonally expanded CD8 T cells characterize amyotrophic lateral sclerosis-4
Modelling eNvironment for Isoforms (MoNvIso): A general platform to predict structural determinants of protein isoforms in genetic diseases
How rare and common risk variation jointly affect liability for autism spectrum disorder
Prospective and detailed behavioral phenotyping in DDX3X syndrome
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism