Area of research
Genetics
Research interest
Research interests include Inflammatory Bowel Disease, Genetic Associations and Epidemiology, Genomic variations and chromosomal abnormalities, and Genomics and Rare Diseases.
Deleterious coding variation associated with autism is shared across ancestries
Multiancestry brain pQTL fine-mapping and integration with genome-wide association studies of 21 neurologic and psychiatric conditions
Sex differences in brain protein expression and disease
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate
Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
LDL cholesterol is associated with higher AD neuropathology burden independent of APOE
Eicosatetraynoic Acid and Butyrate Regulate Human Intestinal Organoid Mitochondrial and Extracellular Matrix Pathways Implicated in Crohn’s Disease Strictures
Loss of function of OTUD7A in the schizophrenia- associated 15q13.3 deletion impairs synapse development and function in human neurons
Genetic control of the human brain proteome
Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care
Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease
Ileal Derived Organoids From Crohn’s Disease Patients Show Unique Transcriptomic and Secretomic Signatures
Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism
Site- and Taxa-Specific Disease-Associated Oral Microbial Structures Distinguish Inflammatory Bowel Diseases
Profiling non-coding RNA levels with clinical classifiers in pediatric Crohn’s disease
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion
Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios
Identifying genetic factors that contribute to the increased risk of congenital heart defects in infants with Down syndrome
Recessive gene disruptions in autism spectrum disorder
Blood-Derived DNA Methylation Signatures of Crohn's Disease and Severity of Intestinal Inflammation
Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of <i>APOB</i>
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects
Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn’s Disease
Enhanced Contribution of HLA in Pediatric Onset Ulcerative Colitis
Restoration of pyrethroid susceptibility in a highly resistant <i>Aedes aegypti</i> population
Bystro: rapid online variant annotation and natural-language filtering at whole-genome scale
Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte–Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn’s Disease
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