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 Alzheimer's disease research and treatments.
Identifying Phelan-McDermid-Like Electrophysiological Subtypes in Autism Using EEG and Machine Learning
Familial confounding in the associations between maternal health and autism
Psychiatric genetics in the diverse landscape of Latin American populations
Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer’s disease
Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations
A framework to infer <i>de novo</i> exonic variants when parental genotypes are missing enhances association studies of autism
Familial Risk and Heritability of Lower Urinary Tract Symptoms in Children and Young Adults
Regulation of cell distancing in peri-plaque glial nets by Plexin-B1 affects glial activation and amyloid compaction in Alzheimer’s disease
Proximity analysis of native proteomes reveals phenotypic modifiers in a mouse model of autism and related neurodevelopmental conditions
Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome
Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach
Expanding GABAergic Neuronal Diversity in PSC-Derived Disease Models
Skipping of Exon 20 in <i>EP300</i> : A Novel Variant Linked to Rubinstein–Taybi Syndrome With Atypical and Severe Clinical Manifestations
Aortic Root Dilation and Genotype Associations in Phelan‐<scp>McDermid</scp> Syndrome
A significant role for maternal genetic nurture in the risk architecture of attention-deficit/hyperactivity disorder
Comorbidities in autism spectrum disorder and their etiologies
Associations of Sex, Race, and Apolipoprotein E Alleles With Multiple Domains of Cognition Among Older Adults
Updated consensus guidelines on the management of Phelan–McDermid syndrome
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions
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
An evolutionary perspective on complex neuropsychiatric disease
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
Somatic comorbidities of mental disorders in pregnancy
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative
Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
Population-level variation in enhancer expression identifies disease mechanisms in the human brain